Rheumatology Quiz on Symptoms and Tests

Internal Medicine Notes

• Increased blood cholesterol is a symptom to be considered.
• History of heart problems, hernia, or conditions affecting the stomach are noted in patient history.
• Assessing if the patient has asthma is also important.
• Patient's age, general condition (e.g., fair or good), and the number of siblings and sisters are also observed.

Rheumatic Disorders

• Rheumatism encompasses various diseases, one of which is rheumatoid arthritis.
• A 42-year-old woman experienced increasing pain and swelling in her hands, feet, elbows, and knees.
• She reported no fever, hair loss, dry eyes, dry mouth, mouth ulcers, rash, Raynaud's phenomenon or pleurisy.
• The patient experienced tingling sensations in her right thumb, index, and middle fingers.

Raynaud's Phenomenon

• Raynaud's disease affects areas such as fingers and toes, causing numbness and coldness in response to cold temperatures or stress.
• Smaller blood vessels narrow, reducing blood flow to the affected extremities/areas.
• This phenomenon is also called vasospasm.

Pleurisy

• Pleurisy (also called pleuritis) is a condition where the pleura, lining the lungs and chest wall, becomes inflamed.
• Pleurisy causes sharp chest pain, worsens with breathing.

Examination Findings

• Antalgic gait (walking with pain) and limping were present.
• Limited shoulder abduction and internal rotation.
• Elbow flexion limited to 85 degrees.
• Swelling, warmth, tenderness, and limited range of motion in the wrists were found.
• Positive Tinel's and Phalen signs.
• Swelling, warmth, tenderness in the metacarpophalangeal (MCP) joints of the hands.
• Swelling and warmth in the proximal interphalangeal (PIP) joints of the hands were also found.
• Effusions (fluid build-up) in the knees.
• Positive findings in the metatarsophalangeal (MTP) joints of the feet.
• Normal range of motion and normal sacroiliac (SI) joints in the spine.

Carpal Tunnel Syndrome

• Carpal Tunnel Syndrome (CTS) is a common hand condition.
• Pressure on the median nerve, in the carpal tunnel of the wrist, causes numbness, tingling, and weakness in the thumb and fingers.
• Narrow passageway within the wrist, enclosed by bones and ligaments.

Investigations (Blood Tests)

• Hemoglobin levels (normal range is 11.6-15g/dl, 13.2-16.6g/dl).
• Mean Corpuscular Volume (MCV) (normal range 80-100 fl).
• Platelets (normal range 150-450 x 10^3/µL)
• Erythrocyte Sedimentation Rate (ESR) (85)
• C-Reactive Protein (CRP) (50)
• Rheumatoid factor (RF) strongly positive.
• Anti-nuclear antibodies (ANA) negative.

X-Ray and MRI Findings

• Erosion at the level of the second metacarpophalangeal joint.
• Erosion in the 4th and 5th metacarpal bones.
• Erosion on the level of the wrist of the joint.
• Erosion of the metatarsal bones of the feet.

Diagnosis

• Rheumatoid Arthritis (RA) was suspected given the patient's symptoms and test results.
• RA is a chronic disease where small joints in the body become inflamed.
• Common symptoms include morning stiffness, small-joint inflammation, and swelling in joints.
• Increased inflammatory markers and a positive rheumatoid factor are common indicators for diagnosis.

Rheumatoid Arthritis (RA)

• Chronic inflammatory autoimmune disease.
• Incidence varies depending on sex and age: Male (0.2/1000), or Female (0.4/1000).
• 0.5%-1% prevalence globally. 2-3 times more common in women than men.
• Family history of RA increases risk of developing the disease.
• Onset is typically in the 4th-5th decade.
• HLA-DR4 is present in 60-70% of RA patients and 20-25% in the general population.
• HLA genes play a role but account for only 37% of genetic factors involved in RA.
• Symptoms typically develop over weeks-months, but in 15% of cases, the onset is acute (in days).
• Symptoms often begin as symmetrical polyarthritis of small joints.
• Approximately one-Third of people initially have single-joint disease before RA spreads.
• Severe, untreated arthritis can result in joint deformities like swan-neck deformity with per-extension of the PIP joints, and flexion of the DIP joints.
• Current treatments are effective and prevent major deformities.

Risk Factors for RA

• Environmental: Smoking (particularly in CCP-positive patients), low level of formal education, and urban environments can influence risk.
• Hormonal: Estrogen, breast-feeding after the first pregnancy, and pregnancy show a favorable effect.
• Genetic: HLA-DR4, DR1 are the most influential genes. PTPN22 and STAT4 are also related.

Autoantibodies (RF & CCP)

• RF and CCP sensitivities are similar (around 70%).
• CCP has greater specificity (95%) compared to RF (85%).
• Most patients with anti-CCP antibodies also have positive RF results.

Disease Course

• Different course patterns are identified depending on the patient: Progressive (10% of cases), Monocyclic (20% of cases), Polycyclic (70% of cases).
• The duration of time from the initial onset of the disease until the diagnosis varies.

Extra-Articular Manifestations

• Systemic diseases can affect all body parts.
• Common manifestations in RA include skin, ocular, hematologic, pulmonary, cardiac, neurologic, and renal problems.

Systemic Lupus Erythematosus (SLE)

• Chronic multi-system autoimmune disease.
• Characterized by a variety of symptoms and highly variable course.
• Frequent relapses and remissions are observed.
• Peak incidence is between ages 20-40. Ratio of occurrence is 8:1 for women to men.
• Prevalence worldwide is around 50-150 per 100,000.
• Twins concordance rates: 25%-50% (monozygotic) and 5% (dizygotic).

Etiology of SLE

• Host factors (environmental influences like sex, hormonal changes, infections, and exposure to substances like race and UV radiation).
• Genetic factors (HLA-A1, B8, DR2, and DR3).
• Drug-related causes (medicines and chemicals like procainamide, hydralazine, and quinidine).
• Immunological (loss of tolerance to nuclear autoantigens, B-cell hyperactivity, and dysregulation of T-cells).

SLE Classification Criteria

• 4/11 criteria for clinical symptoms and lab results must be met.
• Criteria include indicators like acute cutaneous lupus; chronic cutaneous lupus; oral and nasal ulcers; non-scarring alopecia; arthritis; serositis; renal involvement; neurologic involvement; hemolytic anemia; thrombocytopenia and leukopenia.
• Immunological criteria include ANA; anti-DNA antibodies; anti-Sm antibodies; antiphospholipid antibodies; low complement levels, or a positive direct Coombs test.

Clinical Manifestations of SLE

• Most frequent findings include skin manifestations (88%), arthritis (76%), neuropsychiatric symptoms (66%), pleuritis/pericarditis (63%), and anemia (57%).
• Other manifestations include Raynaud's (44%), vasculitis (43%), atherosclerosis (37%), nephritis (31%), thrombocytopenia (30%), neuropathy (28%), and cardiac valve disease (18%), pulmonary involvement(12%), pancreatitis and mysitis (10 & 5% respectively).

Dermatological Manifestations of SLE

• Classifed into acute, subacute, and chronic forms.

Acute SLE

• Malar rash (butterfly rash) is a common manifestation.
• Other findings include non-scarring alopecia, oral ulcers, and annular rash

Subacute SLE

• Annular/Ring-shaped lesions can be found over the trunk/extremities.

Chronic SLE

• Discoid lupus can occur, leading to hyperpigmented lesions and scarring in skin.
• Hair loss from alopecia can also occur, and is typically irreversible

Musculoskeletal System in SLE

• Jaccoud's arthropathy is a characteristic finding, involving joint laxity.
• Joints may be affected but erosion is not present.

Pulmonary Manifestations in SLE

• Pleural effusion can cause obliteration of the costophrenic angle on CT scan.
• Infiltrations of the lung can be present, resulting in possible bleeding or fibrotic damage.

Cardiovascular Manifestations in SLE

• Patients may experience pallor in their hands due to the Raynaud's phenomenon.
• Potential cardiac involvement, such as coronary artery disease (CAD).

Renal Manifestations in SLE

• 4 classes of Lupus nephritis are found via biopsy.
• Histological observations guide diagnosis and treatment.

Neuropsychiatric Manifestations in SLE

• These involve a variety of symptoms, such as aseptic meningitis, cerebrovascular disease, demyelinating syndromes, headaches, movement disorders, myelopathy, seizures, acute confusion, anxiety disorders, cognitive problems, mood disturbances, and psychosis..

Hematologic Manifestations in SLE

• Common findings include normocytic or microcytic anemia, thrombocytopenia, leukopenia, and lymphopenia.

Oral Ulcers

• Recurrent oral ulcers, painless, and non-HSV related (must occur at least 3 times within a 12-month period) may be a sign of SLE.

Behçet's Disease

• Recurrent oral ulcers are common.
• Patients may also have recurrent genital ulcers, eye lesions, skin lesions, and pathergy (a skin-hypersensitivity reaction).
• Oral ulcers are painful in Behçet's disease, in contrast to SLE.