LONG CASE 2024 PDF

Comprehensive Medical Conditions Reference ========================================== Diabetic Ketoacidosis (DKA) --------------------------- \- Etiology:\ - Insulin deficiency leading to lipolysis and ketone production.\ - Triggered by infection, non-compliance with insulin, new diabetes diagnosis, or stress (e.g., surgery).\ - Signs/Symptoms:\ - Polyuria, polydipsia, nausea, vomiting, abdominal pain, Kussmaul respirations (deep labored breathing, fruity breath odor, altered mental status.\ - History:\ - Diabetes history, insulin use, recent infections, polyuria/polydipsia, weight loss.\ - Investigations:\ - Blood glucose (\>250 mg/dL), arterial blood gas (metabolic acidosis with anion gap), serum ketones, electrolytes (low bicarbonate, hyperkalemia (as insulin is required for the influx of potassium into the cells), urinalysis (ketones, glucose).\ - Differential Diagnoses:\ - HHS: No ketones, glucose \>600 mg/dL, normal pH.\ - Sepsis: Fever, infection, negative ketones.\ - Lactic Acidosis: Normal ketones, high lactate.\ - Management:\ - Fluids: IV normal saline initially. (1L in the first one hour)\ - Insulin: Regular insulin infusion.\ - Electrolytes: Potassium replacement as needed.\ - Treat underlying cause (e.g., antibiotics for infection). **Addition of Dextrose:** - When blood glucose falls to **200--250 mg/dL (11--14 mmol/L)**: - Add **5% dextrose** to the fluids (e.g., D5-0.45% saline) to prevent hypoglycemia while continuing to correct acidosis. \- Complications:\ - Hypokalemia, cerebral edema, arrhythmias. Celiac Disease -------------- \- Etiology:\ - Autoimmune response to gluten in genetically susceptible individuals (HLA-DQ2/DQ8).\ - Signs/Symptoms:\ - Diarrhea, bloating, weight loss, fatigue, dermatitis herpetiformis.\ - History:\ - Chronic diarrhea, anemia, family history, gluten exposure.\ - Investigations:\ - Anti-tTG (tissue transglutaminase) antibodies, will be false negative in patients with IgA deficiency, duodenal biopsy (villous atrophy).\ - Differential Diagnoses:\ - IBS: No villous atrophy, normal serology.\ - Crohn's Disease: Skip lesions, granulomas, abdominal pain, faecal calprotectin\ - Lactose Intolerance: No antibody or biopsy findings. Stool pH acidic and reducing substances positive\ - Management:\ - Gluten-free diet, nutritional supplementation (iron, calcium, vitamins).\ - Complications:\ - Malabsorption, osteoporosis, enteropathy-associated T-cell lymphoma (EATL) Parkinson's Disease ------------------- \- Etiology:\ - Degeneration of dopaminergic neurons in the substantia nigra.\ - Signs/Symptoms:\ - Bradykinesia, rigidity, resting tremor, postural instability.\ - History:\ - Gradual onset, handwriting changes, tremor, falls, sleep disturbances.\ - Investigations:\ - Clinical diagnosis; MRI to rule out secondary causes.\ - Differential Diagnoses:\ - Essential Tremor: Action tremor, no bradykinesia.\ - Drug-Induced Parkinsonism: History of dopamine-blocking drugs.\ - Lewy Body Dementia: Prominent cognitive decline early.\ - Management:\ - Levodopa-Carbidopa: Dopamine replacement.\ - Dopamine agonists: Pramipexole, ropinirole.\ - MAO-B inhibitors: Selegiline.\ - Complications:\ - Dyskinesias, falls, cognitive decline. **Hyperthyroidism (Graves' Disease/Thyroid Storm)** - **Etiology**: - Autoimmune activation of TSH receptor. - Thyroid storm triggered by stress, infection, or surgery. - **Signs/Symptoms**: - Heat intolerance, weight loss, palpitations, exophthalmos, tachycardia, pretibial myxedema. - **History**: - Recent stressor, family history, palpitations, anxiety. - **Investigations**: - Low TSH, high T4/T3, thyroid antibodies (TSI, TSH receptor Ab). - **Differential Diagnoses**: - **Toxic Multinodular Goiter**: Nodular thyroid on ultrasound. - **Subacute Thyroiditis**: Painful thyroid, low uptake on scan. - **Hemochromatosis:** - **Supporting Features:** Family history of hemochromatosis, bronze skin pigmentation, diabetes, and arthropathy. Possible involvement of pituitary or hypothalamic dysfunction leading to secondary thyroid abnormalities. - **Opposing Features:** No thyroid-specific autoantibodies, absence of symptoms directly related to hyperthyroidism (e.g., no exophthalmos or pretibial myxedema). Elevated serum ferritin and transferrin saturation are characteristic. - **Management**: - **Beta-blockers**: Propranolol for symptoms. - **Antithyroid drugs**: Carbimazole, Methimazole or PTU (preferred in pregnancy). - **Iodine**: After antithyroid drugs to block hormone release. - **Steroids**: For severe cases. - **Complications**: - Atrial fibrillation, thyroid storm. **5. HIV Presenting with PCP** - **Etiology**: - Pneumocystis jirovecii infection in immunocompromised patients (CD4 \ - **LDH**: Elevated. - **Sputum PCR or BAL**: For PCP identification. - **Differential Diagnoses**: - **TB**: Cavitary lesions, chronic symptoms. - **Bacterial Pneumonia**: Focal consolidation on imaging. - **Management**: - **TMP-SMX (Bactrim)**: First-line treatment. - **Steroids**: If hypoxia (PaO2 \ - **Nucleoside Reverse Transcriptase Inhibitors (NRTIs)**: - Block reverse transcriptase, an enzyme HIV needs to replicate. - Examples: - Zidovudine (AZT) - Lamivudine (3TC) - Emtricitabine (FTC) - Abacavir (ABC) - - **Complications**: - Respiratory failure, pneumothorax. **Allergic Bronchopulmonary Aspergillosis (ABPA)** **1. Etiology:** - **Cause**: Hypersensitivity reaction to *Aspergillus fumigatus* in individuals with asthma or cystic fibrosis. - **Risk factors**: - Asthma (most common). - Cystic fibrosis. - Repeated exposure to moldy environments. **2. Signs and Symptoms:** - **Respiratory**: - Worsening asthma symptoms (wheezing, breathlessness). - Cough, often productive with brownish sputum plugs. - Hemoptysis (in advanced cases). - **Systemic**: - Fever. - Malaise. - Weight loss (in chronic/advanced disease). **3. What to Ask in History:** - **Respiratory History**: - Long-standing asthma or cystic fibrosis? - Recent worsening of asthma control or increase in inhaler use? - Episodes of hemoptysis or coughing up sputum plugs? - **Allergic Symptoms**: - History of atopy or allergic rhinitis? - Sensitivity to moldy environments? - **Systemic Symptoms**: - Unexplained fever, fatigue, or weight loss? - **Exposure**: - Occupational/environmental exposure to moldy areas? **4. Investigations:** **Confirm Diagnosis:** - **Blood Tests**: - Total serum IgE: Elevated (\1000 IU/mL is suggestive). - Aspergillus-specific IgE and IgG: Positive. - Eosinophil count: Elevated. - **Imaging**: - **Chest X-ray**: - Transient or fixed pulmonary infiltrates. - Bronchiectasis in later stages. - **High-resolution CT (HRCT)**: - Central bronchiectasis with normal peripheral bronchi. - **Pulmonary Function Tests (PFTs)**: - Obstructive pattern (↓ FEV1/FVC) or mixed obstructive-restrictive. - **Sputum Culture**: - Growth of *Aspergillus fumigatus*. **Rule Out Differentials:** - Serum markers to exclude other conditions: - **Anti-neutrophil cytoplasmic antibodies (ANCA)** for vasculitis. - **Alpha-1 antitrypsin levels** for emphysema-related conditions. **5. Differential Diagnoses:** **Condition** **For** **Against** ------------------------------------- ------------------------------------------------------------ -------------------------------------------------------------------- **Asthma exacerbation** History of asthma, wheezing, reversible airflow limitation No eosinophilia or raised Aspergillus-specific IgE **Chronic pulmonary aspergillosis** Aspergillus exposure, positive culture No significant IgE elevation, fibrosis present **Eosinophilic pneumonia** Pulmonary infiltrates, eosinophilia No central bronchiectasis or Aspergillus IgE **Cystic fibrosis exacerbation** History of CF, sputum changes Normal IgE or no reaction to Aspergillus **Tuberculosis** Cough, hemoptysis, weight loss Negative sputum for *Mycobacterium tuberculosis*, no IgE elevation **6. Management:** 1. **Medical Therapy**: - **Glucocorticoids (mainstay)**: - Oral prednisone (initial dose 0.5 mg/kg/day, tapered over weeks). - **Antifungal Therapy**: - Itraconazole or voriconazole to reduce fungal burden and steroid requirements. - **Bronchodilators**: - For symptom control in asthmatic patients. 2. **Monitor**: - Regular IgE levels (used to track disease activity). - Pulmonary function tests for disease progression. 3. **Avoidance**: - Minimize exposure to moldy environments. 4. **Allergy management**: - Treat concomitant allergic rhinitis or atopy if present. **7. Complications:** - **Pulmonary**: - Chronic bronchiectasis. - Pulmonary fibrosis. - Recurrent lung infections. - **Systemic**: - Long-term corticosteroid side effects (osteoporosis, diabetes, adrenal suppression). - **Respiratory Failure**: - In advanced stages due to progressive fibrosis. ### 6 Multiple Sclerosis (MS) - Detailed Notes **Etiology:** - Autoimmune-mediated inflammation leads to demyelination of axons in the central nervous system (CNS), disrupting nerve signal conduction. - Genetic predisposition: Associated with HLA-DR2. - Environmental factors: Vitamin D deficiency, viral infections (e.g., EBV), smoking. **Signs and Symptoms:** 1. **Primary Symptoms (related to demyelination):** - **Vision:** Optic neuritis (painful, monocular vision loss with central scotoma and color desaturation). Usually unilateral - **Motor:** Limb weakness (may progress to spasticity in advanced stages). - **Sensory:** Numbness, tingling, or paresthesia in a dermatomal or patchy distribution. - **Cerebellar:** Ataxia, dysarthria, tremor. - **Autonomic dysfunction:** Bladder urgency, retention, constipation, or sexual dysfunction. - **Cognitive dysfunction:** Memory impairment, reduced processing speed, and attention deficits. - **Fatigue:** Severe and disproportionate to physical activity. 2. **Uhthoff's Phenomenon:** - Worsening of symptoms with heat exposure (e.g., exercise, hot showers). 3. **Lhermitte's Sign:** - Electric shock-like sensation radiating down the spine or limbs upon neck flexion. 4. **Paroxysmal Symptoms:** - Brief, stereotyped episodes of symptoms (e.g., tonic spasms). +-----------------------------------+-----------------------------------+ | 5. **Feature** | **MS Presentation** | +-----------------------------------+-----------------------------------+ **Reflexes** Hyperreflexia, brisk reflexes -------------- ------------------------------- -------------------- ------------------------ **Plantar Reflex** Positive Babinski sign -------------------- ------------------------ ------------ -------------------------------- **Clonus** May be present in severe cases ------------ -------------------------------- **Tone** Spasticity (increased muscle tone) ---------- ------------------------------------ **History:** 1. **Episodic nature:** - Relapsing-remitting pattern (most common): Episodes of neurological dysfunction lasting days to weeks, followed by partial or complete recovery. - Secondary progressive: Gradual worsening after an initial relapsing-remitting course. - Primary progressive: Gradual worsening without distinct relapses. - Progressive-relapsing: Steady progression with superimposed acute exacerbations. 2. **Key Features to Ask:** - First symptom: Often optic neuritis or sensory deficits. - Symptom triggers: Heat sensitivity (Uhthoff\'s), infections, stress. - Family history: Relatives with MS or other autoimmune conditions. - Functional impact: Daily living, mobility, and cognitive tasks. - Disease duration and progression. 3. **Differential Symptoms to Elicit:** - Rule out mimickers: Stroke (acute), neuromyelitis optica (longitudinally extensive spinal cord lesions), Lyme disease, or Vitamin B12 deficiency. **Investigations:** 1. **MRI Brain and Spinal Cord (Diagnostic):** - T2 hyperintense lesions in periventricular, juxtacortical, infratentorial, or spinal cord regions. - Gadolinium enhancement (active inflammation). - Dawson's fingers: Perpendicular lesions to the corpus callosum. 2. **Lumbar Puncture (CSF Analysis):** - Oligoclonal bands (unique to CNS) in CSF but absent in serum. - Elevated IgG index. 3. **Evoked Potentials:** - Visual evoked potentials (VEP): Delayed conduction time indicating optic nerve demyelination. 4. **Blood Work:** - Exclude mimickers: B12, ANA, anti-dsDNA, ESR, CRP, Lyme serology, Aquaporin-4 antibodies (neuromyelitis optica). **Management:** 1. **Acute Exacerbations:** - High-dose IV methylprednisolone (e.g., 1 g/day for 3--5 days) to reduce inflammation. - Plasma exchange for steroid-refractory cases. 2. **Disease-Modifying Therapies (DMTs):** - **First-line:** - Interferon-beta or glatiramer acetate (safe, moderate efficacy). - Oral agents: Dimethyl fumarate, teriflunomide, fingolimod. - **Second-line (more aggressive disease):** - Monoclonal antibodies: Natalizumab, alemtuzumab, ocrelizumab. - Regular monitoring for side effects: Infections, liver dysfunction, progressive multifocal leukoencephalopathy (PML) with natalizumab. 3. **Symptomatic Management:** - Spasticity: Baclofen, tizanidine. - Fatigue: Amantadine or modafinil. - Neuropathic pain: Gabapentin, pregabalin. - Depression: SSRIs. - Bladder dysfunction: Anticholinergics (oxybutynin) or intermittent catheterization. 4. **Rehabilitation:** - Physical and occupational therapy for mobility and strength. - Cognitive rehabilitation for memory and attention deficits. 5. **Lifestyle and Support:** - Vitamin D supplementation. - Smoking cessation. - Patient education: Importance of adherence to DMTs and avoiding triggers. **Prognosis:** - Highly variable depending on the subtype. - Relapsing-remitting MS: Better prognosis with early treatment. - Poorer prognosis with primary progressive MS, frequent relapses, or significant disability at onset. **Multiple Sclerosis (MS) - Detailed Notes** **Etiology:** - Autoimmune-mediated inflammation leads to demyelination of axons in the central nervous system (CNS), disrupting nerve signal conduction. - Genetic predisposition: Associated with HLA-DR2. - Environmental factors: viral infections (e.g., EBV), smoking. **Signs and Symptoms:** 1. **Primary Symptoms (related to demyelination):** - **Vision:** Optic neuritis (painful, monocular vision loss with central scotoma and color desaturation). - **Motor:** Limb weakness (may progress to spasticity in advanced stages). - **Sensory:** Numbness, tingling, or paresthesia in a dermatomal or patchy distribution. - **Cerebellar:** Ataxia, dysarthria, tremor. - **Autonomic dysfunction:** Bladder urgency, retention, constipation, or sexual dysfunction. - **Cognitive dysfunction:** Memory impairment, reduced processing speed, and attention deficits. - **Fatigue:** Severe and disproportionate to physical activity. 2. **Uhthoff's Phenomenon:** - Worsening of symptoms with heat exposure (e.g., exercise, hot showers). 3. **Lhermitte's Sign:** - Electric shock-like sensation radiating down the spine or limbs upon neck flexion. 4. **Paroxysmal Symptoms:** - Brief, stereotyped episodes of symptoms (e.g., tonic spasms). **History:** 1. **Episodic nature:** - Relapsing-remitting pattern (most common): Episodes of neurological dysfunction lasting days to weeks, followed by partial or complete recovery. 2. **Key Features to Ask:** - First symptom: Often optic neuritis or sensory deficits. - Symptom triggers: Heat sensitivity (Uhthoff\'s), infections, stress. - Family history: Relatives with MS or other autoimmune conditions. - Functional impact: Daily living, mobility, and cognitive tasks. - Disease duration and progression. 3. **Differential Symptoms to Elicit:** **Stroke (Acute Ischemic or Hemorrhagic)** - **For Stroke:** - Sudden onset of neurological deficits (minutes to hours). - Focal symptoms such as hemiparesis, aphasia, or unilateral vision loss. - Risk factors: Hypertension, diabetes, atrial fibrillation, smoking. - Imaging: Acute infarct or hemorrhage on CT or diffusion-weighted MRI. - **Against Stroke (Favoring MS):** - Episodic or relapsing-remitting symptoms (over days to weeks) rather than acute onset. - Multifocal neurological deficits not corresponding to a single vascular territory. - Positive findings of demyelination (T2 hyperintensities, periventricular plaques) on MRI. - Young age and lack of significant vascular risk factors. **2. Vitamin B12 Deficiency** - **For Vitamin B12 Deficiency:** - **Gradual onset of paresthesias, ataxia, or weakness.** - **Symmetrical symptoms involving the posterior columns (vibration and proprioception loss).** - **Macrocytic anemia and hypersegmented neutrophils on CBC.** - **Elevated methylmalonic acid and homocysteine levels.** - **Against Vitamin B12 Deficiency (Favoring MS):** - **Episodic, relapsing symptoms in MS (not progressive, as seen in B12 deficiency).** - **MRI: Demyelinating lesions in MS, whereas B12 deficiency shows spinal cord atrophy or signal changes in the dorsal columns.** - **Normal B12 levels and absence of hematologic abnormalities.** **3. Lyme Disease** - **For Lyme Disease:** - History of tick bite, travel to endemic areas. - Symptoms of early disease: Erythema migrans rash, fever, arthralgia. - Late neurologic symptoms: Lymphocytic meningitis, cranial nerve palsies (e.g., facial nerve), radiculopathy. - Positive Lyme serology (IgM/IgG antibodies or PCR in CSF). - **Against Lyme Disease (Favoring MS):** - Lack of systemic symptoms (e.g., fever, arthralgia). - MRI: Absence of demyelinating lesions; inflammation not localized to classic MS areas. - No history of tick exposure or travel to endemic areas. - CSF: Lack of oligoclonal bands and other typical MS findings. **4. Vitamin B12 Deficiency** - **For Vitamin B12 Deficiency:** - Gradual onset of paresthesias, ataxia, or weakness. - Symmetrical symptoms involving the posterior columns (vibration and proprioception loss). - Macrocytic anemia and hypersegmented neutrophils on CBC. - Elevated methylmalonic acid and homocysteine levels. - **Against Vitamin B12 Deficiency (Favoring MS):** - Episodic, relapsing symptoms in MS (not progressive, as seen in B12 deficiency). - MRI: Demyelinating lesions in MS, whereas B12 deficiency shows spinal cord atrophy or signal changes in the dorsal columns. - Normal B12 levels and absence of hematologic abnormalities. **Giant Cell Arteritis (GCA)** - **For GCA:** - **Vision loss:** Sudden, painless monocular vision loss due to anterior ischemic optic neuropathy. - **Systemic symptoms:** Fatigue, fever, weight loss, malaise. - **Cranial symptoms:** New-onset headache, scalp tenderness, jaw claudication (pain while chewing). - **Age:** Typically \50 years old. - **Laboratory findings:** Elevated erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP). - **Against GCA (Favoring MS):** - Younger age group (MS commonly presents in individuals aged 20--40 years). - Episodic and relapsing nature of symptoms in MS versus more progressive vision loss in GCA. - MRI findings in MS: Demyelinating plaques, especially periventricular or spinal cord, absent in GCA. - CSF findings: Oligoclonal bands and elevated IgG index in MS, which are not found in GCA. - Absence of systemic inflammatory symptoms or elevated inflammatory markers in MS. **Multiple System Atrophy (MSA)** - **For MSA:** - **Age of onset:** Typically in the sixth decade (50s), later than MS. - **Autonomic dysfunction:** Severe and early symptoms such as orthostatic hypotension, urinary incontinence, and erectile dysfunction. - **Motor symptoms:** Parkinsonism (rigidity, bradykinesia) or cerebellar ataxia (depending on MSA subtype: MSA-P or MSA-C). - **Sleep disturbances:** REM sleep behavior disorder (acting out dreams). - **MRI findings:** \"Hot cross bun\" sign in the pons (specific for MSA-C). - **Progression:** Rapidly progressive course compared to the episodic relapsing/remitting pattern in MS. - **Against MSA (Favoring MS):** - **Age of onset:** MS typically presents in young adults (20--40 years). - **Episodic symptoms:** MS follows a relapsing/remitting course, whereas MSA is progressively worsening. - **MRI findings:** MS shows demyelinating lesions in characteristic CNS areas (periventricular, juxtacortical, spinal cord), not the pontine atrophy or \"hot cross bun\" sign seen in MSA. - **CSF findings:** Oligoclonal bands and elevated IgG index are present in MS but not in MSA. - **Autonomic dysfunction:** Can occur in MS but is usually milder and occurs later compared to the prominent autonomic failure in MSA. **Investigations:** 1. **MRI Brain and Spinal Cord (Diagnostic):** - T2 hyperintense lesions in periventricular, juxtacortical, infratentorial, or spinal cord regions. - Gadolinium enhancement (active inflammation). - Dawson's fingers: Perpendicular lesions to the corpus callosum. 2. **Lumbar Puncture (CSF Analysis):** - Oligoclonal bands (unique to CNS) in CSF but absent in serum. - Elevated IgG index. 3. **Evoked Potentials:** - Visual evoked potentials (VEP): Delayed conduction time indicating optic nerve demyelination. 4. **Blood Work:** - Exclude mimickers: B12, ANA, anti-dsDNA, ESR, CRP, Lyme serology, Aquaporin-4 antibodies (neuromyelitis optica). **Management:** 1. **Acute Exacerbations:** - High-dose IV methylprednisolone (e.g., 1 g/day for 3--5 days) to reduce inflammation. - Plasma exchange for steroid-refractory cases. 2. **Disease-Modifying Therapies (DMTs):** - **First-line:** - Interferon-beta or glatiramer acetate (safe, moderate efficacy). - Oral agents: Dimethyl fumarate, teriflunomide, fingolimod. - **Second-line (more aggressive disease):** - Monoclonal antibodies: Natalizumab, alemtuzumab, ocrelizumab. - Regular monitoring for side effects: Infections, liver dysfunction, progressive multifocal leukoencephalopathy (PML) with natalizumab. 3. **Symptomatic Management:** - Spasticity: Baclofen, tizanidine. - Fatigue: Amantadine or modafinil. - Neuropathic pain: Gabapentin, pregabalin. - Depression: SSRIs. - Bladder dysfunction: Anticholinergics (oxybutynin) or intermittent catheterization. 4. **Rehabilitation:** - Physical and occupational therapy for mobility and strength. - Cognitive rehabilitation for memory and attention deficits. 5. **Lifestyle and Support:** - Vitamin D supplementation. - Smoking cessation. - Patient education: Importance of adherence to DMTs and avoiding triggers. **Prognosis:** - Highly variable depending on the subtype. - Relapsing-remitting MS: Better prognosis with early treatment. - Poorer prognosis with primary progressive MS, frequent relapses, or significant disability at onset. **Lyme Disease** **1. Etiology** - **Cause:** Infection by the spirochete *Borrelia burgdorferi* transmitted via bites from *Ixodes* ticks. - **Risk Factors:** - Exposure to tick-endemic areas (e.g., Northeast and Midwest USA, parts of Europe and Asia). - Outdoor activities (hiking, camping). - Poor tick prevention measures (no insect repellent, exposed skin). **2. Signs and Symptoms** 1. **Early Localized Disease (Days to Weeks):** - Erythema migrans (\"bull's-eye rash\"): Expands over days, often painless. - Flu-like symptoms: Fever, chills, fatigue, headache, myalgia, arthralgia. 2. **Early Disseminated Disease (Weeks to Months):** - Neurological: Cranial neuropathies (especially facial nerve palsy, often bilateral), meningitis, radiculopathy. - Cardiac: Atrioventricular block, myopericarditis. - Multiple erythema migrans lesions. 3. **Late Disease (Months to Years):** - Musculoskeletal: Migratory polyarthritis, especially in large joints like the knee. - Neurological: Encephalopathy, peripheral neuropathy. 4. **General Symptoms Across Stages:** - Fatigue, malaise, and nonspecific systemic symptoms. **3. History - Key Questions to Ask** 1. **Exposure History:** - Travel to or residence in endemic areas. - Outdoor activities involving tall grass or wooded areas. - Known tick bites. 2. **Symptom Timeline:** - Early symptoms (rash, flu-like symptoms) versus later systemic manifestations (joint pain, neurological symptoms). - Progression of symptoms: Did the rash resolve spontaneously? Did joint or neurological symptoms appear after? 3. **Past Medical History:** - Prior diagnosis or treatment for Lyme disease. - History of autoimmune diseases (to rule out mimics like RA or MS). 4. **Family and Social History:** - Similar symptoms in family or companions exposed to the same environment. - Impact on daily life (fatigue, joint pain, cognitive issues). **4. Investigations** 1. **Blood Tests:** - **Serology (2-step testing):** - First: Enzyme-linked immunosorbent assay (ELISA) for IgM/IgG antibodies to *Borrelia burgdorferi*. - Second: Western blot to confirm positive ELISA results. - Positive serology is not helpful in early localized disease (antibodies may not yet form). 2. **Other Laboratory Tests:** - Complete blood count (CBC): May show leukocytosis in systemic disease. - ESR: Elevated in disseminated or late disease. 3. **CSF Analysis (if neurological symptoms present):** - Lymphocytic pleocytosis. - Elevated protein. - Intrathecal antibody production. 4. **ECG and Holter Monitoring (if cardiac symptoms):** - To identify conduction abnormalities, particularly atrioventricular block. 5. **Imaging (if late neurological symptoms or arthritis):** - Joint X-rays or MRI to assess damage in late-stage arthritis. - Brain/spinal MRI if encephalopathy or myelitis suspected. **5. Differential Diagnoses** 1. **Erythema Migrans Stage:** - **For:** History of tick bite, endemic area, characteristic rash. - **Against:** Absence of systemic symptoms, no travel to endemic areas. 2. **Neurological Stage:** - **Differentials:** - Bell's palsy (isolated cranial nerve VII involvement). - Guillain-Barré Syndrome (ascending weakness without facial involvement). - Multiple Sclerosis (progressive CNS demyelination). - **For Lyme Disease:** Travel history, bilateral cranial nerve involvement, positive Lyme serology. - **Against Lyme Disease:** MRI shows periventricular lesions (MS), no travel to endemic areas. 3. **Arthritis Stage:** - **Differentials:** - Rheumatoid Arthritis (symmetrical small joint involvement). - Reactive Arthritis (post-infectious arthritis after GI/GU infections). - **For Lyme Disease:** Asymmetrical large joint arthritis, history of rash, endemic area exposure. - **Against Lyme Disease:** Symmetrical joint involvement, seronegative Lyme test. **6. Management** 1. **Early Disease:** - **Antibiotics:** - Doxycycline (100 mg orally twice daily for 10--21 days). - Amoxicillin (if pregnant or \1,000 IU/mL). - **Aspergillus-Specific IgE and IgG Antibodies:** - Positive in ABPA. - **Skin Prick Testing:** - Positive response to *Aspergillus* antigens. - **Immune Deficiency Workup:** - Quantitative immunoglobulin levels to rule out immune deficiency. 4. **Pulmonary Function Tests (PFTs):** - Obstructive pattern: Reduced FEV1/FVC ratio. - Reversibility with bronchodilators (suggests concurrent asthma or ABPA). 5. **Blood Tests:** - Eosinophilia: Often elevated in ABPA. - Arterial blood gas (ABG): Hypoxia or hypercapnia in advanced disease. 6. **Echocardiography:** - To assess for pulmonary hypertension or right heart dysfunction in cor pulmonale. **5. Differential Diagnoses** **1. COPD:** - **For COPD:** - History of smoking or long-term environmental exposure. - Chronic cough with sputum production. - Imaging: Hyperinflation without bronchiectasis. - **Against COPD (Favoring Bronchiectasis):** - Presence of recurrent infections and hemoptysis. - HRCT showing bronchial dilation. - Young age without significant smoking history. **2. Asthma:** - **For Asthma:** - Episodic wheezing, reversible with bronchodilators. - Normal imaging. - **Against Asthma (Favoring Bronchiectasis/ABPA):** - Persistent productive cough and sputum production. - HRCT shows bronchiectasis and mucus plugging. - Elevated serum IgE and *Aspergillus* antibodies. **3. Tuberculosis:** - **For Tuberculosis:** - History of exposure or endemic area. - Chronic cough with hemoptysis. - Imaging: Cavitation or apical lesions. - **Against Tuberculosis (Favoring Bronchiectasis/ABPA):** - Sputum negative for acid-fast bacilli (AFB). - Diffuse bronchiectasis rather than localized cavitation. **4. Cystic Fibrosis:** - **For CF:** - Positive family history or genetic testing. - Recurrent infections since childhood. - Elevated sweat chloride test. - **Against CF (Favoring Bronchiectasis/ABPA):** - Later onset without a childhood history. - ABPA markers (elevated IgE and positive *Aspergillus* antibodies). **6. Management** 1. **Antibiotic Therapy:** - For acute exacerbations: *Pseudomonas*-covering agents (e.g., ciprofloxacin, ceftazidime). - Long-term macrolides (e.g., azithromycin) for prevention in recurrent exacerbations. 2. **Corticosteroids (ABPA):** - Prednisolone: Start with a high dose (e.g., 0.5--1 mg/kg/day) and taper over months. - Monitor for relapse with IgE levels. 3. **Antifungal Therapy (ABPA):** - Itraconazole or voriconazole for *Aspergillus* eradication if corticosteroids alone are insufficient. 4. **Bronchodilators:** - For associated airflow obstruction or concurrent asthma. 5. **Airway Clearance:** - Chest physiotherapy (percussion, postural drainage). - Use of mucolytics (e.g., hypertonic saline or DNase in cystic fibrosis). 6. **Supplemental Oxygen:** - For hypoxia in advanced cases or cor pulmonale. 7. **Treatment of Cor Pulmonale:** - Diuretics for fluid overload. - Pulmonary hypertension-specific drugs (e.g., endothelin receptor antagonists) in select cases. **6. Infertility Secondary to DM and Hemochromatosis** - **Etiology**: - Endocrine dysfunction due to iron overload and metabolic complications, due to heriditary inheretince with autosomal recissive or due to repeated blood transfusions. - **Signs/Symptoms**: - Erectile dysfunction, amenorrhea, fatigue, joint pain. Bronze diabetes. Polyuria, polydypsia. Dyspnea cardiomyopathy - **History**: - Family history, diabetes control, menstrual history. - **Investigations**: - Ferritin high, iron studies, HbA1c. TIBC low - Hormonal profile (low or inappropriately normal LH. & FSH, low testosterone, low eostrogen, low prolactin). - **Differential Diagnoses**: - **Hypothyroidism**: TSH elevation. Commonly associated with menorhagia. Normal iron profile - **PCOS**: High LH/FSH ratio. - **Management**: - Phlebotomy or chelation (desfiruxamine) for hemochromatosis. - Optimize diabetes control. - **Complications**: - End-organ damage, cirrhosis. \-\-- 7\. Acromegaly \- Presenting History: Patients often report gradual enlargement of hands, feet, and facial features. Symptoms may include joint pain, headaches, excessive sweating, and sometimes visual disturbances. \- Etiology: Most commonly due to a pituitary adenoma that secretes excess growth hormone (GH), leading to elevated IGF-1 levels. \- Physical Exam Findings: Enlarged hands and feet, coarsened facial features (prominent jaw, brow ridge), thickened skin, and occasionally visual field defects (from optic chiasm compression). \- Investigations: \- Serum IGF-1 levels (elevated) \- Oral Glucose Tolerance Test (OGTT) with G levels (failure to suppress GH) \- MRI of the brain to visualize pituitary adenoma \- Management: Surgical removal of pituitary adenoma (transsphenoidal surgery), medical therapy (somatostatin analogs, GH receptor antagonists), and radiation therapy if surgery is not completely effective. \-\-- 9 Acute Leukemia with Acute Pancytopenia Presentation \- Presenting History: Patients may present with fatigue, pallor, frequent infections, bruising, bleeding (e.g., gum bleeding), and bone pain. \- Etiology: Malignant proliferation of hematopoietic stem cells, leading to immature blast cells in the bone marrow. Etiologies include genetic mutations, exposure to radiation, or certain chemicals. \- Physical Exam Findings: Pallor, petechiae or ecchymoses, gingival hypertrophy, signs of infection (fever), and occasionally lymphadenopathy or hepatosplenomegaly. **Differentials with Supporting and Opposing Features:** - **Aplastic Anemia:** Supports---pancytopenia without blasts, history of drug/toxin exposure; Against---absence of blasts, hypocellular marrow on biopsy. - **Myelodysplastic Syndrome:** Supports---gradual onset, dysplastic features on smear; Against---dysplasia on marrow, no predominance of blasts. - **Infectious Causes (e.g., EBV, HIV):** Supports---recent infection or exposure, systemic symptoms like fever or rash; Against---no blasts, infection confirmed on serology/PCR. - **Severe Vitamin B12/Folate Deficiency:** Supports---macrocytic anemia, hypersegmented neutrophils, poor diet or malabsorption history; Against---absence of blasts, responds to supplementation. - **Bone Marrow Infiltration by Other Malignancies:** Supports---history of malignancy, pancytopenia, organomegaly; Against---marrow shows non-leukemic infiltration, no circulating blasts. \- Investigations: \- CBC with differential showing pancytopenia and blasts \- Bone marrow biopsy to confirm leukemia and determine subtype \- Flow cytometry for specific markers on blast cells \- Management: Chemotherapy, targeted therapy (depending on subtype), supportive care (transfusions, infection management), and possibly hematopoietic stem cell transplantation. (Bone marrow transplant) \-\-- 10 Acute Kidney Rejection \- Presenting History: Patients with recent kidney transplant may present with fever, reduced urine output, graft tenderness, or malaise. \- Etiology: Immune-mediated response against the transplanted kidney, often due to inadequate immunosuppression or non-adherence to medication. \- Physical Exam Findings: Tenderness over the transplant site, signs of fluid overload (edema), and sometimes elevated blood pressure. \- Investigations: \- Serum creatinine (elevated) \- Renal ultrasound to assess for swelling or blood flow issues \- Renal biopsy to confirm rejection and type (cellular vs. antibody-mediated) **Differential Diagnoses:** **1. Acute Tubular Necrosis (ATN):** - **For**: - Recent ischemic or toxic injury (e.g., hypotension, nephrotoxic drugs). The ability of the kidney to reabsorb sodium is low - No fever or graft tenderness. - Renal biopsy shows tubular damage without immune-mediated rejection. - **Against**: - No significant leukocyte infiltration or C4d deposition. **2. Dehydration or Pre-Renal Azotemia:** - **For**: - History of inadequate fluid intake, hypotension, or diuretics. - Improved creatinine with volume resuscitation. - Ability of the kidney to reabsorb sodium is normal. - **Against**: - No fever, tenderness, or findings on renal biopsy. **3. Drug-Induced Nephrotoxicity:** - **For**: - Use of nephrotoxic drugs (e.g., calcineurin inhibitors, aminoglycosides). - Gradual rise in creatinine without fever or inflammation. - **Against**: - No immune-mediated findings on biopsy. **4. Post-Renal Obstruction:** - **For**: - History of recent surgery, stone disease, or bladder dysfunction. - Ultrasound shows hydronephrosis. - **Against**: - No fever or graft tenderness. **5. Infection (e.g., Pyelonephritis or BK Virus Nephropathy):** - **For**: - Positive urine culture, fever, leukocytosis. - BK virus nephropathy confirmed by PCR or biopsy showing viral inclusions. - **Against**: - No histological evidence of rejection on biopsy. - **ATN**: Muddy brown granular casts. - **Pyelonephritis**: WBC casts. - **Glomerulonephritis**: RBC casts. \- Management: Adjustments in immunosuppressive therapy (e.g., corticosteroids, antithymocyte globulin), supportive care, and monitoring for complications. **Leukemia** **1. Etiology** - **Definition:** - A group of blood cancers originating in the bone marrow, characterized by the uncontrolled proliferation of abnormal white blood cells. - **Types:** - **Acute Leukemias:** - Acute Lymphoblastic Leukemia (ALL): Common in children. - Acute Myeloid Leukemia (AML): Common in adults. - **Chronic Leukemias:** - Chronic Lymphocytic Leukemia (CLL): Common in older adults. - Chronic Myeloid Leukemia (CML): Associated with the Philadelphia chromosome (*BCR-ABL* gene). - **Risk Factors:** - Genetic predisposition (e.g., Down syndrome, Fanconi anemia). - Ionizing radiation exposure. - Chemical exposure (e.g., benzene). - Previous chemotherapy/radiation therapy. - Viral infections (e.g., HTLV-1). **2. Signs and Symptoms** **General Symptoms:** - Fatigue, weakness (due to anemia). - Fever, frequent infections (due to neutropenia). - Easy bruising, bleeding (due to thrombocytopenia). - Bone pain or tenderness (due to bone marrow expansion). - Unintentional weight loss. **Organ-Specific Symptoms:** - **Lymphadenopathy:** Painless enlargement of lymph nodes, more common in ALL and CLL. - **Hepatosplenomegaly:** Seen in CLL, CML, and some cases of ALL. - **CNS Involvement:** Headache, vomiting, cranial nerve palsies (common in ALL). - **Skin Lesions:** Leukemia cutis (infiltration of leukemic cells). **Specific Symptoms by Type:** - **ALL:** Often presents acutely with fatigue, fever, and pancytopenia. - **AML:** May present with bleeding (e.g., gums), DIC, or leukostasis in hyperleukocytosis. - **CML:** Insidious onset with fatigue, splenomegaly, and elevated WBC count. - **CLL:** Asymptomatic in early stages; later, develops infections, anemia, or autoimmune hemolytic anemia. **3. History - Key Questions to Ask** 1. **Symptom Duration and Onset:** - Acute (ALL, AML) vs. insidious (CML, CLL). - Fever, weight loss, fatigue, or bleeding tendencies. 2. **Bleeding and Infection History:** - Frequency of infections or bleeding episodes (e.g., epistaxis, petechiae). 3. **Organ-Specific Symptoms:** - Bone pain, lymph node swelling, abdominal fullness (hepatosplenomegaly). 4. **Risk Factors:** - Family history of blood disorders. - Prior radiation/chemotherapy or chemical exposures. - Viral infections (e.g., HTLV-1). 5. **Previous Medical Conditions:** - Autoimmune diseases (CLL can be associated with autoimmune hemolytic anemia). - Congenital syndromes (e.g., Down syndrome for ALL). **4. Investigations** **Laboratory Tests:** 1. **Complete Blood Count (CBC):** - Elevated WBCs (can be very high in CML/CLL or blasts in acute leukemia). - Anemia and thrombocytopenia. 2. **Peripheral Blood Smear:** - **Acute Leukemias:** Blast cells (\>20% blasts diagnostic). - **CML:** Immature myeloid cells, basophilia, eosinophilia. - **CLL:** Smudge cells. **Bone Marrow Examination:** - **Acute Leukemias:** Hypercellular marrow with \>20% blasts. - **CML:** Increased myeloid precursors. - Cytogenetics: *Philadelphia chromosome* (CML, sometimes ALL). **Cytogenetics and Molecular Testing:** - *BCR-ABL* (CML, some ALL). - FLT3, NPM1 mutations (AML). - TP53, del(17p) mutations (CLL). **Flow Cytometry (Immunophenotyping):** - Distinguishes between AML and ALL. - **AML:** CD13, CD33. - **ALL:** CD19, CD10 (B-cell ALL), CD3 (T-cell ALL). **Other Tests:** - Coagulation studies: For DIC in AML (especially APL subtype). - Serum LDH and uric acid: Elevated in high cell turnover. - Lumbar puncture: To assess CNS involvement in ALL. **Imaging:** - CT/MRI: To assess lymphadenopathy or organ involvement. - Chest X-ray: Mediastinal mass (common in T-cell ALL). **5. Differential Diagnoses** **1. Aplastic Anemia:** - **For Aplastic Anemia:** - Pancytopenia without blasts. - Hypocellular marrow on biopsy. - **Against (Favoring Leukemia):** - Blasts on peripheral smear. - Organomegaly or lymphadenopathy. **2. Myelodysplastic Syndromes (MDS):** - **For MDS:** - Older age, dysplastic features on smear. - \ - **Against**: - Lack of symmetric polyarthritis or specific RA deformities. **3. Methotrexate-Induced Lung Disease:** - **For**: - Recent initiation or prolonged methotrexate use. - Acute onset of dyspnea, with ground-glass opacities on HRCT. - **Against**: - No progression to classic fibrosis unless drug is continued. **4. Sarcoidosis:** - **For**: Multi-organ involvement συχη ασ **Lungs**: Bilateral hilar lymphadenopathy, interstitial lung disease. **Skin**: Erythema nodosum, lupus pernio, maculopapular rash. **Eyes**: Uveitis, conjunctival granulomas, dry eye. **Lymph Nodes**: Hilar/mediastinal and peripheral lymphadenopathy. **Heart**: Arrhythmias, conduction blocks, heart failure. **Liver**: Granulomas, elevated liver enzymes. **Spleen**: Splenomegaly, granulomas. **Nervous System**: Cranial nerve palsies, meningitis, seizures, neuropathy. **Kidneys**: Hypercalcemia, kidney stones, granulomatous nephritis. **Joints/Bones**: Arthritis, dactylitis, osteolytic lesions. **Endocrine**: Pituitary/hypothalamic dysfunction, thyroid involvement. **Parotid Glands**: Swelling, facial nerve involvement. **Muscles**: Granulomatous myopathy. **Vascular System**: Large vessel vasculitis (rare). hilar lymphadenopathy on imaging. - **Against**: - Non-caseating granulomas on biopsy, no symmetric arthritis. **5. Interstitial Pneumonitis (Hypersensitivity Pneumonitis):** - **For**: - History of allergen exposure (birds, mold). - Imaging shows centrilobular ground-glass opacities. - **Against**: - No joint or autoimmune markers suggestive of RA. **6. Ankylosing Spondylitis (AS):** - **For**: - Pulmonary fibrosis in advanced cases with spine stiffness. - HLA-B27 positivity. - **Against**: - Absence of peripheral joint involvement or typical RA findings. \- Management: Disease-modifying antirheumatic drugs (DMARDs), biologic agents, corticosteroids for RA, and oxygen therapy or lung transplantation in severe pulmonary fibrosis cases. ------------- ---------------------------------------- ------------------------------- **Feature** **Systemic Lupus Erythematosus (SLE)** **Rheumatoid Arthritis (RA)** ------------- ---------------------------------------- ------------------------------- -------------- -------------------------------------------------- --------------------------------------------------------- **Etiology** Autoimmune disease with multi-organ involvement. Autoimmune disease primarily targeting synovial joints. -------------- -------------------------------------------------- --------------------------------------------------------- ------------------ ----------------------------------------------------------------- -------------------------------------------------------- **Epidemiology** Common in women of childbearing age (9:1 female-to-male ratio). More common in women; peak onset between 30--50 years. ------------------ ----------------------------------------------------------------- -------------------------------------------------------- --------------------- ----------------------------------------------------------------------------------------------------- ------------------------------------------------------------------------------------- **Pathophysiology** Autoantibodies (e.g., ANA, anti-dsDNA) causing immune complex deposition and systemic inflammation. Inflammatory cytokines (e.g., TNF-α, IL-6) causing synovitis and joint destruction. --------------------- ----------------------------------------------------------------------------------------------------- ------------------------------------------------------------------------------------- -------------------- ----------------------------------------------------- ----------------------------------------------- **Primary Target** Multiple organ systems (skin, kidneys, heart, CNS). Joints, particularly small joints (MCP, PIP). -------------------- ----------------------------------------------------- ----------------------------------------------- ----------------------- ----------------------------------------------------- ------------------------------------------------------------------------------------------------------- **Joint Involvement** Non-erosive arthritis, symmetrical; less deforming. Symmetrical, erosive arthritis with joint deformities (e.g., ulnar deviation, swan neck deformities). ----------------------- ----------------------------------------------------- ------------------------------------------------------------------------------------------------------- ----------------------- ------------------------------ --------------------------- **Systemic Symptoms** Fatigue, fever, weight loss. Fatigue, low-grade fever. ----------------------- ------------------------------ --------------------------- ---------------------- ---------------------------------------------------------------- ------------------------------------------------------ **Skin Involvement** Malar (\"butterfly\") rash, photosensitivity, discoid lesions. Rheumatoid nodules (subcutaneous), no specific rash. ---------------------- ---------------------------------------------------------------- ------------------------------------------------------ ---------------------- --------------------------------------- -------------------------------------------------------------------- **Lung Involvement** Pleuritis, interstitial lung disease. Interstitial lung disease, pleuritis, rheumatoid nodules in lungs. ---------------------- --------------------------------------- -------------------------------------------------------------------- ----------------------- ------------------------------------------- --------------------------------------------------- **Renal Involvement** Lupus nephritis (proteinuria, hematuria). Rare; secondary effects of systemic inflammation. ----------------------- ------------------------------------------- --------------------------------------------------- ------------------------- ------------------------------------------ ---------------------------------------------------------- **Cardiac Involvement** Pericarditis, Libman-Sacks endocarditis. Pericarditis, increased risk of coronary artery disease. ------------------------- ------------------------------------------ ---------------------------------------------------------- ------------------------ ----------------------------------------------------------------------- ----------------------------------------------------------------- **Ocular Involvement** Retinal vasculitis, keratoconjunctivitis sicca (secondary Sjögren's). Episcleritis, keratoconjunctivitis sicca (secondary Sjögren's). ------------------------ ----------------------------------------------------------------------- ----------------------------------------------------------------- --------------------------- --------------------------------------------- ---------------------------------------------- **Neurological Symptoms** Seizures, psychosis, cognitive dysfunction. Rare; mild sensory neuropathy in some cases. --------------------------- --------------------------------------------- ---------------------------------------------- ---------------- ---------------------------------------------------------------------------------- ---------------------------------------------- **Antibodies** ANA (sensitive), anti-dsDNA, anti-Smith (specific), antiphospholipid antibodies. Rheumatoid factor (RF), anti-CCP (specific). ---------------- ---------------------------------------------------------------------------------- ---------------------------------------------- ------------------ ---------------------------------------------------------------- ---------------------------------------------- **Lab Findings** Anemia, leukopenia, thrombocytopenia, low complement (C3, C4). Anemia of chronic disease, elevated ESR/CRP. ------------------ ---------------------------------------------------------------- ---------------------------------------------- --------------------------- --------------------------------------------------- ---------------------------------------------------- **Radiological Findings** No joint erosions; soft tissue swelling possible. Joint erosions, periarticular osteopenia on X-ray. --------------------------- --------------------------------------------------- ---------------------------------------------------- ------------------------------ ----------------------------------------------------------- ---------------------------------------------------------------------- **Differentiating Features** Multi-system involvement, positive ANA, photosensitivity. Symmetrical polyarthritis, erosions on imaging, anti-CCP positivity. ------------------------------ ----------------------------------------------------------- ---------------------------------------------------------------------- --------------- ---------------------------------------------------------------------------------------------------------------- ----------------------------------------------------------------------- **Treatment** **Mild Disease**: NSAIDs, hydroxychloroquine.\ **DMARDs**: Methotrexate, sulfasalazine.\ **Severe Disease**: Corticosteroids, immunosuppressants (e.g., azathioprine, cyclophosphamide, mycophenolate). **Biologics**: Anti-TNF (e.g., infliximab), anti-IL-6 (tocilizumab).\ Corticosteroids for flares. --------------- ---------------------------------------------------------------------------------------------------------------- ----------------------------------------------------------------------- ------------------- -------------------------------------------------------------------------------- ----------------------------------------------------------------------------- **Complications** Lupus nephritis, antiphospholipid syndrome, infections from immunosuppression. Joint deformities, interstitial lung disease, cardiovascular complications. ------------------- -------------------------------------------------------------------------------- ----------------------------------------------------------------------------- 13 Pyrexia of Unknown Origin (Possible Infective Endocarditis) \- Presenting History: Persistent fever without an obvious source, fatigue, weight loss, night sweats, and possible history of valvular disease or intravenous drug use. \- Etiology: Infective endocarditis, often due to bacteria like Staphylococcus or Streptococcus infecting heart valves. \- Physical Exam Findings: Possible new or changing heart murmur, Janeway lesions, Osler nodes, and splinter hemorrhages. \- Investigations: \- Blood cultures (multiple sets, often positive) \- Echocardiogram (transesophageal preferred) showing vegetations on heart valves \- CRP and ESR (elevated) \- Management: Prolonged IV antibiotics, possibly surgery if severe valve damage, and supportive care. Certainly, here's a more detailed, comprehensive breakdown of each condition, tailored for a final-year medical student. \-\-- 14 Sickle Cell Disease \- Presenting History: Patients commonly present with recurrent painful vaso-occlusive crises, fatigue, pallor, jaundice, and increased susceptibility to infections. Other complications include acute chest syndrome (chest pain, fever, hypoxia, pulmonary infiltrates), splenic sequestration (rapid spleen enlargement, drop in hemoglobin), and stroke. More prone to develop infections with encapsulated organisms. Such as salmonella and H influenza and Streptococcus \- Etiology: Autosomal recessive disorder caused by a mutation in the β-globin gene, leading to hemoglobin S (HbS) formation. Under hypoxic conditions, HbS polymerizes, causing RBCs to sickle, obstructing blood flow, and causing hemolysis. Glutamic acid to Valine in Haemoglobin S vs Haemoglobin. The basic genetic defect is in chromosome number 11 \- Physical Exam Findings: Pallor, jaundice, delayed growth in children, splenomegaly in young children (eventual functional asplenia in adults), leg ulcers, and skeletal abnormalities due to bone infarcts. Then they have auto splenectomy \- Investigations: \- CBC: Shows normocytic anemia with reticulocytosis. \- Peripheral Blood Smear: Sickled cells, target cells, Howell-Jolly bodies (due to asplenia). \- Hemoglobin Electrophoresis: Confirms diagnosis by detecting HbS and quantifying HbF. \- Liver Function Tests: Elevated indirect bilirubin from hemolysis. **Differential Diagnoses:** 1. **Autoimmune Hemolytic Anemia (AIHA)**: - **For**: Anemia, jaundice, and positive reticulocytosis. - **Against**: Positive Coombs test; no sickled cells or HbS on electrophoresis. 2. **Thalassemia (e.g., Beta-Thalassemia Major)**: - **For**: Microcytic anemia, target cells on smear, splenomegaly. - **Against**: Hb electrophoresis shows HbA2 and HbF elevations, not HbS. 3. **G6PD Deficiency**: - **For**: Hemolysis triggered by oxidative stress (e.g., infections, drugs like sulfa). - **Against**: No sickled cells or HbS; presence of Heinz bodies. 4. **Hereditary Spherocytosis**: - **For**: Jaundice, splenomegaly, hemolysis. - **Against**: Spherocytes on smear; negative HbS on electrophoresis. 5. **Infections with Encapsulated Organisms (e.g., Pneumococcal Sepsis)**: - **For**: Fever, splenectomy or functional asplenia, risk of severe infection. - **Against**: Infection is secondary, not primary; no Hb abnormalities. 6. **Acute Lymphoblastic Leukemia (ALL)**: - **For**: Anemia, bone pain, fever. - **Against**: Presence of blasts on peripheral smear and bone marrow biopsy. \- Management: \- Hydroxyurea: Increases fetal hemoglobin (HbF) and reduces frequency of crises. \- Pain Management: NSAIDs and opioids during vaso-occlusive crises. \- Prophylactic Penicillin and Vaccination: To reduce risk of infection in children. \- Blood Transfusions: For severe anemia, acute chest syndrome, or stroke prevention. \- Stem Cell Transplant: Curative in select cases but limited by donor availability. ![A table with black text Description automatically generated](media/image6.png) \-\-- 15 Thalassemia \- Presenting History: Symptoms vary depending on the severity of the type (α or β-thalassemia). Severe cases (e.g., β-thalassemia major) present with severe anemia, growth retardation, bone deformities, jaundice, and hepatosplenomegaly. \- Etiology: Genetic mutations impairing the production of α or β-globin chains. β-thalassemia is more common in Mediterranean, African, and Middle Eastern populations, while α-thalassemia is prevalent in Southeast Asia. **In beta thalassemia major:**  **Hemoglobin F (HbF)**: - **Dominant form** in beta-thalassemia major. - Consists of two alpha (α) chains and two gamma (γ) chains (α2γ2). - Increased production occurs as a compensatory mechanism due to the absence of beta chains. - Levels of HbF can be significantly elevated, often exceeding 90%.  **Hemoglobin A2 (HbA2)**: - Minor hemoglobin type (α2δ2). - Levels may be normal or slightly increased, typically **2--5%**. - The delta-globin chain is overexpressed as a response to deficient beta chain production.  **Hemoglobin A (HbA)**: - The normal adult hemoglobin (α2β2). - Severely reduced or absent due to the lack of beta-globin chains. \- Physical Exam Findings: Pallor, jaundice, hepatosplenomegaly, bony deformities such as frontal bossing, and growth delay in severe cases. \- Investigations: \- CBC: Microcytic, hypochromic anemia with target cells. \- Hemoglobin Electrophoresis: Increased HbA2 and/or HbF in β-thalassemia. \- Genetic Testing: Confirms α or β-globin gene mutations. **Differential Diagnoses Based on Symptoms:** **1. Iron-Deficiency Anemia:** - **For**: - Microcytic hypochromic anemia, pallor, fatigue. (serim iron and ferritin will be low) TIBC is high - History of poor dietary intake, chronic blood loss (e.g., menorrhagia, GI bleeding). - **Against**: - Normal Hb electrophoresis. - No hepatosplenomegaly or bony deformities. **2. Sideroblastic Anemia:** - **For**: - Microcytic anemia with increased serum iron and ferritin. - Presence of ringed sideroblasts on bone marrow biopsy. - **Against**: - Normal Hb electrophoresis, absence of thalassemia gene mutations. **3. Lead Poisoning:** - **For**: - Microcytic anemia, basophilic stippling of RBCs on peripheral smear. - History of environmental exposure to lead. - **Against**: - Normal Hb electrophoresis, no familial pattern. **4. Hereditary Spherocytosis:** - **For**: - Hemolysis (jaundice, splenomegaly), spherocytes on blood smear. - Positive osmotic fragility test. - **Against**: - Normal Hb electrophoresis, no microcytosis. **5. Anemia of Chronic Disease:** - **For**: - Microcytic or normocytic anemia, history of chronic inflammatory conditions (e.g., rheumatoid arthritis, chronic infections). - Low iron, low TIBC, normal or increased ferritin. - **Against**: - No target cells, normal Hb electrophoresis, no bony deformities. \- Management: \- Regular Transfusions for severe cases (β-thalassemia major) to maintain Hb \9-10 g/dL. \- Iron Chelation Therapy (deferasirox, deferoxamine) to prevent iron overload from transfusions. \- Splenectomy in cases of hypersplenism. \- Stem Cell Transplant: Potentially curative but used in select severe cases. Complications: Hemochromatosis with infertility \-\-- 15 G6PD Deficiency \- Presenting History: Often asymptomatic until an acute hemolytic episode is triggered by infections, medications (e.g., sulfa drugs, antimalarials), or ingestion of fava beans. Symptoms include jaundice, dark urine (because of intravascular hemolysis leading to excretion of hemoglobin in the urine, hemoglobinuria), fatigue, pallor, and back pain. \- Etiology: X-linked recessive disorder leading to a deficiency in glucose-6-phosphate dehydrogenase (G6PD), an enzyme that protects RBCs from oxidative damage. \- Physical Exam Findings: Pallor, jaundice, dark urine, and splenomegaly during hemolytic episodes. \- Investigations: \- CBC and Reticulocyte Count: Shows anemia and elevated reticulocytes during hemolysis. \- Peripheral Blood Smear: Bite cells and Heinz bodies. \- G6PD Activity Test: Confirms diagnosis by showing low enzyme levels (performed outside of an acute hemolysis episode to avoid false-normal results). \- Management: \- Avoidance of Triggers: Educate patients to avoid specific drugs and foods. \- Supportive Care: During hemolysis, provide hydration, oxygen, and transfusion if severe. \- Patient Education: Importance of avoiding triggers and recognizing early symptoms. \-\-- Hereditary Spherocytosis \- Presenting History: Chronic hemolytic anemia with jaundice, pallor, and splenomegaly. Patients may develop gallstones due to chronic hemolysis and may experience episodes of hemolytic crisis triggered by infections. \- Etiology: Autosomal dominant disorder caused by defects in RBC membrane proteins (spectrin, ankyrin), leading to fragile, spherical RBCs prone to hemolysis. \- Physical Exam Findings: Pallor, jaundice, splenomegaly, and signs of gallstone disease. \- Investigations: \- CBC: Normocytic anemia with reticulocytosis. \- Peripheral Blood Smear: Spherocytes (small, round RBCs lacking central pallor). \- Osmotic Fragility Test: Increased RBC fragility in hypotonic solutions. \- Flow Cytometry: EMA binding test to confirm diagnosis. \- Management: \- Folic Acid Supplementation: Supports increased RBC production. \- Splenectomy: Considered in severe cases or symptomatic patients to reduce hemolysis. \- Cholecystectomy: May be indicated if symptomatic gallstones develop. A table with text on it Description automatically generated \-\--G6PD= Tea colored urine 16 Wilson Disease \- Presenting History: Variable symptoms, including liver disease (hepatitis, cirrhosis), neurological symptoms (tremor, dysarthria, dystonia), and psychiatric symptoms (behavioral changes, personality disorders). \- Etiology: Autosomal recessive mutation in the ATP7B gene, impairing copper transport and causing copper accumulation in the liver, brain, and other organs. \- Physical Exam Findings: Kayser-Fleischer rings (copper deposits in the cornea), hepatomegaly, tremor, and neurological signs like dysarthria and dystonia. \- Investigations: \- Serum Ceruloplasmin: Low in most cases. \- 24-Hour Urinary Copper: Elevated in Wilson's disease. \- Liver Biopsy: Shows elevated hepatic copper levels (\>250 µg/g dry weight). \- Slit-Lamp Examination: For Kayser-Fleischer rings. \- Management: \- Copper Chelation (penicillamine, trientine): To increase urinary excretion of copper. \- Zinc Therapy: Inhibits intestinal absorption of copper. \- Liver Transplant: Considered for fulminant or end-stage liver disease. \-\-- 17 Breast Lump \- Presenting History: A painless or sometimes tender palpable lump. Additional symptoms for malignancy include nipple discharge, skin dimpling, nipple retraction, or changes in breast shape. \- Etiology: Can be benign (fibroadenoma, cyst) or malignant (breast carcinoma). \- Physical Exam Findings: \- Benign: Mobile, well-defined, smooth mass (e.g., fibroadenoma). \- Malignant: Firm, irregular, non-mobile mass with possible skin changes, dimpling, or nipple retraction. \- Investigations: \- Mammography: Initial imaging, especially in women over 40. \- Ultrasound: Preferred for younger women and for further characterization. \- Core Needle Biopsy: Definitive diagnosis by histopathology. \- Management: \- Benign: Regular follow-up or excisional biopsy if symptomatic. \- Malignant: Surgical excision (lumpectomy or mastectomy) with possible adjuvant chemotherapy, radiation, and/or hormone therapy depending on pathology results. \-\-- 18 Benign Prostatic Hyperplasia (BPH) \- Presenting History: Lower urinary tract symptoms (LUTS) such as weak stream, nocturia, hesitancy, and incomplete bladder emptying. \- Etiology: Age-related, non-cancerous enlargement of the prostate due to hormonal influences, particularly dihydrotestosterone (DHT). \- Physical Exam Findings: Smooth, enlarged, non-tender prostate on digital rectal exam. \- Investigations: \- Urinalysis: To rule out infection or hematuria. \- Serum PSA: May be elevated but not specific for BPH. \- Post-Void Residual Measurement: To assess bladder emptying. \- Management: \- Medications: \- Alpha-Blockers (e.g., tamsulosin) to relieve urinary symptoms. \- 5-Alpha reductase inhibitor ------------- ----------------------------------- -------------------------------- -------------------------------------------- --------------------- ------------------- **Feature** **Coronary Artery Disease (CAD)** **Myocardial Infarction (MI)** **Ischemic Heart Disease (Stable Angina)** **Unstable Angina** **Heart Failure** ------------- ----------------------------------- -------------------------------- -------------------------------------------- --------------------- ------------------- ----------- ----------------------------------------------------------- -------------------------------------------------------------------- --------------------------------------------------------------------- ----------------------------------------------------------------- ------------------------------------------------------------ **Cause** Atherosclerosis leading to narrowing of coronary arteries Complete blockage of coronary artery causing ischemia and necrosis Partial blockage of coronary arteries, causing ischemia on exertion Plaque rupture with partial thrombus causing transient ischemia Pump failure due to structural/functional heart impairment ----------- ----------------------------------------------------------- -------------------------------------------------------------------- --------------------------------------------------------------------- ----------------------------------------------------------------- ------------------------------------------------------------ ------------------ -------------------------------------------------------- ----------------------------------------------------------------------- --------------------------------------------------------------- --------------------------------------------------------------------- ----------------------------------------------- **Presentation** Often asymptomatic until severe; may present as angina Sudden, severe chest pain radiating to jaw/left arm, nausea, sweating Predictable chest pain on exertion, relieved by rest/nitrates Chest pain at rest or with minimal exertion, worsening or prolonged Dyspnea, fatigue, orthopnea, peripheral edema ------------------ -------------------------------------------------------- ----------------------------------------------------------------------- --------------------------------------------------------------- --------------------------------------------------------------------- ----------------------------------------------- ------------------- ------------------------------------------- ------------------------------------ ------------------------------------------- ------------------------------------------------- ------------------------------------------------------- **Pain Duration** No typical pain unless advanced narrowing \>20 minutes, not relieved by rest \20 minutes or recurrent, not relieved by rest No typical chest pain; symptoms due to poor perfusion ------------------- ------------------------------------------- ------------------------------------ ------------------------------------------- ------------------------------------------------- ------------------------------------------------------- ----------------- ----------------------------------------- ---------------------------------------------------------------------- ----------------------------------------------------------- ---------------------------------------------------------- ------------------------------------------------ **ECG Changes** Typically normal unless severe ischemia ST-elevation or non-ST elevation, possible T-wave inversion, Q waves Usually normal or slight ST depression during stress test ST depression or T-wave inversion, no persistent changes No specific ECG findings; may show arrhythmias ----------------- ----------------------------------------- ---------------------------------------------------------------------- ----------------------------------------------------------- ---------------------------------------------------------- ------------------------------------------------ ---------------- -------- ---------------------------------------------------------- ------------------------------------ ------------------------------------ ---------------------------------------------------- **Biomarkers** Normal Elevated troponins, CK-MB indicating myocardial necrosis No elevation of cardiac biomarkers No elevation of cardiac biomarkers BNP/NT-proBNP elevated in cases of volume overload ---------------- -------- ---------------------------------------------------------- ------------------------------------ ------------------------------------ ---------------------------------------------------- --------------------- --------------------------------------------------------------- ------------------------------------------------------- ------------------------------------------- ----------------------------------------------------------- ------------------------------------------------------------ **Pathophysiology** Progressive plaque buildup and narrowing of coronary arteries Irreversible ischemia due to complete artery blockage Reversible ischemia with increased demand Transient ischemia due to plaque instability and thrombus Reduced cardiac output due to impaired myocardial function --------------------- --------------------------------------------------------------- ------------------------------------------------------- ------------------------------------------- ----------------------------------------------------------- ------------------------------------------------------------ --------------- ---------------------------------------------------------- ----------------------------------------------------------------------------------------------------------- ----------------------------------------------------------- ----------------------------------------------------- ------------------------------------------------------------- **Treatment** Lifestyle modifications, risk factor management, statins Immediate reperfusion (PCI or thrombolysis), antiplatelets, anticoagulants, beta-blockers, ACE inhibitors Lifestyle modifications, nitrates, beta-blockers, aspirin Antiplatelets, beta-blockers, statins, possible PCI Diuretics, ACE inhibitors, beta-blockers, lifestyle changes --------------- ---------------------------------------------------------- ----------------------------------------------------------------------------------------------------------- ----------------------------------------------------------- ----------------------------------------------------- ------------------------------------------------------------- --------------- -------------------------------------------------- --------------------------------------------------------- ----------------------------------------------- -------------------------------------- ------------------------------------------------- **Prognosis** Varies with severity and control of risk factors High risk of complications (heart failure, arrhythmias) Good if well-managed, low risk of progression High risk of MI without intervention Chronic, progressive; prognosis varies by stage --------------- -------------------------------------------------- --------------------------------------------------------- ----------------------------------------------- -------------------------------------- ------------------------------------------------- ![](media/image8.png) --------------- ------------------- ---------------- ---------------------- ------------------------- **Condition** **Breath Sounds** **Percussion** **Tactile Fremitus** **Additional Features** --------------- ------------------- ---------------- ---------------------- ------------------------- --------------- ------------------------------------------------- -------------------------------- ----------------------------------------- ------------------------------------ **Pneumonia** \- Bronchial breath sounds over consolidation.\ **Dull** (over consolidation). **Increased** (over consolidated area). \- Egophony (\"E to A\" changes).\ - Crackles (fine or coarse). - Whispered pectoriloquy.\ - May have pleural rub. --------------- ------------------------------------------------- -------------------------------- ----------------------------------------- ------------------------------------ ------------ ------------------------------------------ --------------------------------------------------- ------------------------------------------- ----------------------------------- **Asthma** \- Wheezing (high-pitched, expiratory).\ **Normal** or **Hyperresonant** during an attack. **Decreased** during severe exacerbation. \- Silent chest in severe cases.\ - Prolonged expiration. - Use of accessory muscles. ------------ ------------------------------------------ --------------------------------------------------- ------------------------------------------- ----------------------------------- -------------------- ------------------------------------------ ----------------------------------------------- ----------------------------------- ---------------------------------- **Bronchiectasis** \- Coarse crackles over affected areas.\ **Normal** (or dull if mucus-filled airways). **Normal** (or slightly reduced). \- Persistent productive cough.\ - Possible wheezing. - Clubbing in severe cases. -------------------- ------------------------------------------ ----------------------------------------------- ----------------------------------- ---------------------------------- ------------------------ ----------------------------------- -------------------------------------------------- ------------------------------ --------------------------------------- **Chronic Bronchitis** \- Coarse crackles and wheezing.\ **Normal** (or slightly dull in advanced cases). **Normal** or **Decreased**. \- Productive cough \>3 months/year.\ - Prolonged expiration. - Cyanosis (\"blue bloater\"). ------------------------ ----------------------------------- -------------------------------------------------- ------------------------------ --------------------------------------- --------------- ------------------------------ ------------------------------------------ ---------------------------------------- ------------------------------------------- **Emphysema** \- Decreased breath sounds.\ **Hyperresonant** (due to air trapping). **Decreased** (due to hyperinflation). \- Barrel-shaped chest.\ - Prolonged expiration. - Pursed-lip breathing.\ - Cyanosis or cachexia (\"pink puffer\"). --------------- ------------------------------ ------------------------------------------ ---------------------------------------- ------------------------------------------- ---------------------- --------------------------------------- ------------------------ ----------------------------------------- ------------------------------------------------------ **Pleural Effusion** \- Decreased or absent breath sounds. **Dull** (over fluid). **Decreased** (over fluid-filled area). \- Tracheal deviation **away** from large effusion.\ - Mediastinal shift (in massive effusion). ---------------------- --------------------------------------- ------------------------ ----------------------------------------- ------------------------------------------------------ **19 Transient Ischemic Attack (TIA)** - **Presenting History**: Patients present with sudden, temporary neurological deficits such as unilateral weakness, numbness, dysarthria, vision loss, or dizziness, lasting less than 24 hours (typically less than 1 hour). No residual deficits post-episode. Risk factors include hypertension, diabetes, atrial fibrillation, and smoking. - **Etiology**: Temporary focal ischemia due to embolic or thrombotic occlusion of cerebral arteries without infarction. Often related to atherosclerosis in the carotid or vertebrobasilar arteries or cardiac emboli (e.g., atrial fibrillation). - **Physical Exam Findings**: Normal neurological exam post-episode. May find carotid bruit related to atherosclerosis of the carotid artery, irregular heartbeat, or evidence of atherosclerotic disease. - **Investigations**: - **Imaging**: CT or MRI to rule out stroke. - **Carotid Doppler Ultrasound**: Detect carotid stenosis. - **Echocardiography**: Rule out cardiac emboli. - **ECG/Holter**: Assess for atrial fibrillation. - **Blood Work**: Lipid profile, glucose, and coagulation studies. - **U & E**: - **Differential Diagnoses**: - **Ischemic Stroke**: - **For**: Sudden deficits, vascular risk factors. - **Against**: Persistent deficits on imaging or physical exam. - **Seizures**: - **For**: Postictal confusion or focal deficit (Todd's paralysis). - **Against**: No EEG abnormalities or recurrent seizure history. - **Migraine with Aura**: - **For**: Recurrent episodes, headache, and visual symptoms. - **Against**: Longer duration (\>1 hour); gradual onset. - **Management**: - **Antiplatelet Therapy**: Aspirin or clopidogrel. - **Risk Factor Control**: Hypertension, diabetes, dyslipidemia. - **Lifestyle Changes**: Smoking cessation, exercise, healthy diet. - **Carotid Endarterectomy or Stenting**: For significant carotid stenosis (\>70%). - **Anticoagulation**: For cardioembolic source (e.g., atrial fibrillation). **Lifelong anticoagulation** (if there are no contraindications). INR 2-3 **Case 2: Parkinson's Disease** - **Presenting History**: Gradual onset of bradykinesia, resting tremor (pill-rolling), rigidity, and postural instability. Other symptoms include anosmia, hypophonia, micrographia, depression, and autonomic dysfunction (e.g., constipation, orthostatic hypotension). - **Etiology**: Degeneration of dopaminergic neurons in the substantia nigra pars compacta. Accumulation of alpha-synuclein (Lewy bodies) in the brain. - **Physical Exam Findings**: - Resting tremor, rigidity (cogwheel), bradykinesia (slow movements), and shuffling gait. - Decreased arm swing, masked facies, and difficulty with rapid alternating movements. - **Investigations**: - **Clinical Diagnosis**: Based on history and exam. - **Imaging**: MRI to rule out secondary causes (e.g., stroke, normal pressure hydrocephalus). - **DaTscan**: Shows reduced dopamine transporters in basal ganglia. - **Differential Diagnoses**: - **Essential Tremor**: - **For**: Postural tremor, positive family history. - **Against**: Lack of bradykinesia, rigidity, or resting tremor. - **Drug-Induced Parkinsonism**: - **For**: History of dopamine-blocking medication (e.g., antipsychotics). - **Against**: Reverses after stopping offending drug. - **Progressive Supranuclear Palsy (PSP)**: - **For**: Gait instability, early falls, vertical gaze palsy. - **Against**: No resting tremor or response to levodopa. - **Management**: - **Levodopa/Carbidopa**: First-line for symptom relief. - **Dopamine Agonists**: (e.g., Pramipexole, Ropinirole) for early disease or younger patients. - **MonoAmineOxidase-B Inhibitors**: (e.g., Selegiline) for mild symptoms. - **Physical Therapy**: For balance and mobility. - **Deep Brain Stimulation**: In advanced cases with motor complications. 1. **Hemiplegic Gait:** - **Cause:** Stroke, cerebral palsy. - **Features:** - Stiff, extended leg swings in a semicircle (circumduction). - Arm on the same side may be flexed and adducted. 2. **Spastic Gait:** - **Cause:** Spinal cord injury, multiple sclerosis. - **Features:** - Stiff, scissoring motion due to spasticity. - Narrow base of support. 3. **Ataxic Gait:** - **Cause:** Cerebellar dysfunction (e.g., stroke, alcohol intoxication). - **Features:** - Wide-based, unsteady, irregular steps. - Difficulty walking in a straight line. 4. **Parkinsonian Gait:** - **Cause:** Parkinson's disease. - **Features:** - Slow, shuffling steps with reduced arm swing. - Stooped posture and festination (difficulty stopping forward motion). **Case 3: Multiple Sclerosis (MS)** - **Presenting History**: Patients present with relapsing-remitting neurological symptoms (e.g., optic neuritis, limb weakness, sensory disturbances, ataxia). Symptoms may last days to weeks and resolve partially or completely. Fatigue, urinary urgency, and heat sensitivity (Uhthoff's phenomenon) are common. - **Etiology**: Autoimmune demyelination of central nervous system (CNS) axons, with plaques primarily in white matter. Triggered by environmental factors and genetic predisposition (HLA-DRB1). - **Physical Exam Findings**: - Optic neuritis: Visual loss and pain with eye movement. - Lhermitte's sign: Electric shock-like sensation down the spine with neck flexion. - Hyperreflexia, spasticity, and ataxia. - Positive Babinski sign. - **Investigations**: - **MRI with Contrast**: Brain and spinal cord plaques (periventricular white matter lesions). - **Lumbar Puncture**: Oligoclonal bands in CSF. - **Evoked Potentials**: Prolonged conduction time (e.g., visual evoked potentials for optic neuritis). - **Neuromyelitis Optica (NMO)**: - **For**: Severe optic neuritis and transverse myelitis. - **Against**: Aquaporin-4 antibodies positive; no MS-type MRI plaques. - **Stroke**: - **For**: Sudden onset deficits. - **Against**: No relapsing-remitting course. - **Functional Neurological Disorder**: - **For**: Non-anatomic deficits, stress-related. - **Against**: Normal MRI and lumbar puncture. - **Management**: - **Acute Relapses**: IV methylprednisolone or oral corticosteroids. - **Disease-Modifying Therapy**: - Interferon beta, Glatiramer acetate, or newer agents like Ocrelizumab. - **Symptom Management**: - Spasticity: Baclofen. - Fatigue: Amantadine. - Urinary symptoms: Anticholinergics. - **Physical and Occupational Therapy**. **Stroke/Transient Ischemic Attack (TIA)** **1. Etiology** - **Stroke:** - **Ischemic Stroke (85%):** - Thrombosis: Atherosclerosis in large vessels (e.g., carotid arteries). - Embolism: Commonly cardioembolic (e.g., atrial fibrillation, valvular disease). - Small vessel occlusion: Lacunar strokes (associated with hypertension and diabetes). - **Hemorrhagic Stroke (15%):** - Intracerebral hemorrhage (e.g., hypertension, anticoagulation therapy). - Subarachnoid hemorrhage (e.g., ruptured aneurysm, trauma). - **TIA:** - Temporary ischemia due to transient vascular occlusion. - Reversible within minutes to hours (typically \ - **Complications:** Miliary TB, hemoptysis, TB meningitis. **Hepatic Cirrhosis** - **Etiology:** Alcohol, viral hepatitis (HBV, HCV), NASH, autoimmune hepatitis, hemochromatosis. - **Symptoms:** Jaundice, ascites, varices, encephalopathy, fatigue. - **History:** Alcohol use, hepatitis exposure, autoimmune disease. - **Investigations:** - LFTs: ↑AST/ALT, bilirubin, INR; ↓albumin. - Ultrasound: Nodular liver, splenomegaly. - Fibroscan, liver biopsy (confirmatory). - **Differentials:** - **Alcoholic Hepatitis:** - **For Alcoholic Hepatitis:** Recent heavy alcohol use, AST\ALT. - **Against:** No fibrosis or portal hypertension. - **NAFLD:** - **For NAFLD:** Metabolic syndrome, elevated ALT. - **Against:** Fibrosis and portal hypertension on imaging. - **Wilson's Disease:** - **For Wilson\'s:** Young age, low ceruloplasmin, Kayser-Fleischer rings. - **Against:** Normal copper studies. - **Management:** Abstinence, diuretics (ascites), beta-blockers (varices), transplant. - **Complications:** Hepatocellular carcinoma, portal hypertension. **Portal Hypertension** - **Etiology:** Cirrhosis (most common), Budd-Chiari syndrome, schistosomiasis. - **Symptoms:** Ascites, variceal bleeding, splenomegaly, caput medusae. - **History:** Cirrhosis risk factors, procoagulant disorders (Budd-Chiari). - **Investigations:** - Doppler ultrasound: Portal vein flow. - Endoscopy: Varices. - **Differentials:** - **Heart Failure (Right-Sided):** - **For HF:** Elevated JVP, peripheral edema, pulsatile liver. Ascites - **Against:** Normal portal pressure, systemic venous congestion. - **Peritoneal TB:** - **For TB:** Fever, ascitic fluid with lymphocytes. - **Against:** Negative peritoneal biopsy or TB markers. - **Management:** Beta-blockers, endoscopic variceal ligation, TIPS. (Transjugular Intrahepatic Portosystemic Shunt) - **Complications:** Variceal hemorrhage, hepatic encephalopathy. **Hepatitis** - **Etiology:** Viral (HAV, HBV, HCV, HEV), alcohol, autoimmune, drugs. - **Symptoms:** Jaundice, RUQ pain, nausea, dark urine, fatigue. - **History:** Hepatitis exposure (IV drug use, transfusion), alcohol intake, autoimmune diseases. - **Investigations:** - LFTs: ↑AST/ALT. - Viral serologies: HBsAg, anti-HCV. - Imaging: Enlarged liver on ultrasound. - **Differentials:** - **Drug-Induced Liver Injury:** - **For DILI:** Recent medication history (e.g., acetaminophen, methotrexate). - **Against:** Negative drug exposure history. - **Cholelithiasis:** - **For Cholelithiasis:** RUQ pain, gallstones on ultrasound. - **Against:** No ALT elevation. - **Autoimmune Hepatitis:** - **For Autoimmune:** ANA, anti-SMA positivity. - **Against:** Negative autoimmune markers. - **Management:** Antivirals (HBV/HCV), steroids (autoimmune), supportive care. - **Complications:** Cirrhosis, liver failure. **Antiphospholipid Syndrome (APS)** - **Etiology:** Autoimmune disorder, often secondary to SLE; arterial and venous thrombosis. - **Symptoms:** DVT/PE, stroke, recurrent pregnancy loss, livedo reticularis. - **History:** Miscarriages, clot history, autoimmune disease symptoms. - **Investigations:** - Lupus anticoagulant, anticardiolipin antibodies, beta-2 glycoprotein. - Imaging: Doppler ultrasound (DVT), CTPA (PE). - **Differentials:** - **Inherited Thrombophilia (e.g., Factor V Leiden):** - **For Thrombophilia:** Family history, isolated venous clots. - **Against:** Negative antiphospholipid antibodies. - **DIC:** - **For DIC:** Bleeding, elevated D-dimer. - **Against:** No thrombocytopenia in APS. - **Management:** Lifelong anticoagulation (warfarin, DOACs). - **Complications:** Recurrent thromboembolism, pregnancy loss.

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