Medical Conditions PDF

Primary Adrenal Insufficiency (Addison Disease) Sx: abdominal pain, nausea, vomiting, diarrhea, fever, and confusion PE: hyperpigmentation of skin and mucus membranes and hypotension Labs: hyponatremia and hyperkalemia Most commonly caused by autoimmune destruction of the adrenal cortex Tx: hydrocor...

Primary Adrenal Insufficiency (Addison Disease) Sx: abdominal pain, nausea, vomiting, diarrhea, fever, and confusion PE: hyperpigmentation of skin and mucus membranes and hypotension Labs: hyponatremia and hyperkalemia Most commonly caused by autoimmune destruction of the adrenal cortex Tx: hydrocortisone or other glucocorticoid ○ Most patients also require mineralocorticoid (fludrocortisone) Adrenal Insufficiency Primary adrenal insufficiency describes dysfunction of the adrenal glands and may be caused by hemorrhage, infarct, tumor, medication toxicity, or autoimmune destruction. Secondary adrenal insufficiency results from pituitary disease and decreased adrenocorticotropic hormone production. Tertiary adrenal insufficiency is the result of impaired hypothalamic release of corticotropin-releasing hormone. The majority of adrenal insufficiency is primary. Zollinger-Ellison Syndrome Gastrin-secreting tumor, causes peptic ulcer disease Found in duodenum, pancreas, often malignant Sx: abdominal pain, chronic diarrhea, weight loss PE: epigastric tenderness Labs: elevated serum gastrin level (> 1,000 pg/mL) Tx: H2 blockers, PPI, surgery Associated with MEN1 Diabetes Mellitus Type 2 Hyperglycemia due to insulin resistance and progressive loss of insulin secretion Risk factors: obesity, abdominal adiposity, family history, lifestyle factors Sx: asymptomatic, polydipsia, polyphagia, polyuria ADA diagnostic criteria: ○ Symptomatic Random plasma glucose ≥ 200 mg/dL ○ Asymptomatic Fasting plasma glucose ≥ 126 mg/dL Glycated hemoglobin (A1C) ≥ 6.5% Plasma glucose ≥ 200 mg/dL 2 hours after a 75 g glucose load during an OGTT Tx: lifestyle modifications then medication (first-line Rx: metformin) Screen adults aged 35–70 with BMI ≥ 25 kg/m2 every 3 years ○ Those with additional risk factors need annual screening Myxedema Coma Hypothyroidism exacerbation → ↓ metabolic state + AMS PE: stupor, hypoventilation, hypotension, bradycardia Rx: IV thyroid hormone replacement, glucocorticoids High mortality Thyroid Carcinoma PE: solitary hard nodule Labs/Studies: normal thyroid function, cold nodule Diagnosis ○ Initial: US ○ Confirmation: Fine-needle biopsy Papillary: most common, least aggressive Anaplastic: least common, most aggressive Medullary: associated with MEN2, calcitonin can be used as a tumor marker The four types of thyroid cancer are papillary, follicular, medullary, and anaplastic. Papillary thyroid cancer is the most common thyroid cancer and has the best prognosis. Anaplastic thyroid cancer is the least common thyroid cancer and has the worst prognosis. Hyperfunctioning nodules are rarely cancer and do not require a biopsy. A fine needle aspiration biopsy confirms or excludes the diagnosis of thyroid cancer. Hypothyroidism Sx: generalized weakness, fatigue, facial swelling, constipation, cold intolerance, and weight gain, Low, gravelly voice PE: periorbital edema, dry skin, and coarse brittle hair Labs: high TSH and low free T4 thyroid-stimulating hormone (TSH) is the initial laboratory test used to confirm the diagnosis Patients with overt hypothyroidism have low serum free thyroxine (T4) or triiodothyronine (T3), while patients with subclinical hypothyroidism have normal thyroxine and triiodothyronine. Most commonly caused by Hashimoto thyroiditis ○ Dx: antithyroid peroxidase and antithyroglobulin autoantibodies Tx: levothyroxine ○ Takes about 6 weeks to see treatment effects ○ Monitor TSH Hashimoto: risk factor for non-Hodgkin lymphoma Primary hypothyroidism is a disorder of decreased thyroid hormone production by the thyroid gland, and in resource-rich areas, is usually the result of autoimmune destruction of the thyroid. In resource-limited countries, dietary iodine deficiency is a common cause. Hyperosmolar Hyperglycemic State Patient most commonly has history of type 2 DM (has been reported in children with type 1 diabetes) AMS PE will show profound dehydration Labs will show glucose > 600 mg/dL and negative ketones Management includes IV fluids, may also need insulin or electrolyte replacement Hypoglycemia Usually glucose < 60 mg/dL Hypoglycemia is confirmed by meeting the criteria of Whipple’s triad, which includes symptoms characteristic of hypoglycemia, confirmation of low serum glucose concentration, and resolution of the symptoms with increased serum glucose concentration. The possibility of hypoglycemia in patients with diabetes mellitus should be considered in patients with serum glucose below 70 mg/dL or in patients with symptoms of hypoglycemia. Any patient with acute change in mental status or coma should undergo rapid assessment of blood glucose concentration. Signs and symptoms - Confusion, agitation, unresponsiveness Tachycardia, diaphoresis, tremulousness Focal neurologic deficit Tx: Dextrose, thiamine (if malnutrition risk factors present), glucagon Addisonian Crisis Addisonian crisis is a life-threatening condition caused by acute adrenal insufficiency (Addison’s Disease) that can lead to circulatory collapse due to deficiencies in glucocorticoid and mineralocorticoid response from adrenal cortex during periods of physiologic stress. Known triggers for Addisonian crisis include autoimmune adrenal disease, hemorrhage, surgery, volume loss, trauma, tuberculosis, or abrupt cessation of exogenous corticosteroid therapy in a patient with a history of adrenal insufficiency or undiagnosed adrenal insufficiency. The signs and symptoms of acute adrenal insufficiency include severe weakness, orthostatic hypotension, syncope, abdominal pain, back pain, nausea, vomiting, and hyperpigmentation of the skin. Hyperthyroidism Sx: heat intolerance, palpitations, weight loss, tachycardia, and anxiety PE: hyperreflexia, goiter, exophthalmos, pretibial edema Labs: low TSH and high free T4 Most commonly caused by Graves disease (Thyroid-stimulating hormone receptor antibodies activate thyroid gland growth and the synthesis of thyroid hormone) Tx: methimazole or PTU PTU in the first trimester of pregnancy Thyroid Storm History of thyrotoxicosis Sx: tachycardia, hyperpyrexia, agitation, anxiety PE: goiter, lid lag, hand tremor, and warm, moist skin Labs: low TSH and high free T4 or T3 Most commonly caused by an acute event (infection, trauma) Tx: ○ Beta-blocker (propranolol) ○ Thioamide (propylthiouracil or methimazole) ○ Iodine solution ○ Glucocorticoids Hypoparathyroidism History of recent thyroid surgery Extremity and perioral paresthesias, tetany, and lethargy PE will show Chvostek sign (contraction of facial muscles after tapping facial nerve), Trousseau sign (induction of carpopedal spasm) Labs will show low PTH, low calcium, high phosphorus Primary Hyperparathyroidism Causes: parathyroid adenoma > gland hyperplasia, cancer ↑ PTH, ↑ Ca, ↓ phosphorus ↑ Ca → stones, bones, groans, psychiatric overtones Only curative Rx: parathyroidectomy Subacute Thyroiditis The usual pattern of biochemical thyroid dysfunction is a transient hyperthyroid period that is followed by a transient hypothyroid period. Most patients eventually return to a euthyroid state the classic radioactive iodine uptake test result in patients with thyroiditis is low uptake Subacute thyroiditis presents with neck pain, thyroid tenderness, and diffuse goiter. Infectious thyroiditis can be distinguished from subacute thyroiditis by the presence of a unilateral and fluctuant mass (often an abscess) Postpartum thyroiditis is similar clinically and biochemically to painless thyroiditis but is distinguished from painless thyroiditis by the clinical timing. Postpartum thyroiditis occurs in women within one year after parturition. Syndrome of inappropriate antidiuretic hormone is a pathologic endocrine disorder in which antidiuretic hormone levels are elevated secondary to nonphysiologic processes, such as increased release from the pituitary or secretion from ectopic sources. This excess antidiuretic hormone results in hypotonic hyponatremia secondary to increased free water retention and impaired water excretion via the renal system. Produced in the hypothalamus, antidiuretic hormone is normally released from the posterior pituitary in response to hypovolemia and hyperosmolality. Normal regulation occurs by both the central nervous system and the chest via baroreceptors and neural input. Antidiuretic hormone exerts its action on the renal tubules by increasing free water reabsorption, resulting in concentrated urine. The most common etiologies of the syndrome of inappropriate antidiuretic hormone are central nervous system disorders (e.g., stroke, head trauma, brain tumor, meningitis), pulmonary lesions (e.g., tuberculosis, small cell lung carcinoma and other neoplasms, positive pressure ventilation), and malignancies (e.g., pancreatic, prostatic, or renal cell carcinoma, lymphoma, leukemia). Medications that induce this disorder include antidepressants such as tricyclics, monoamine oxidase inhibitors, and selective serotonin reuptake inhibitors; antineoplastics such as cyclophosphamide and vincristine; carbamazepine and other antiepileptics; phenothiazides and butyrophenones; antidiabetic drugs such as tolbutamide and chlorpropamide; vasopressin analogues; and various others (e.g., amiodarone, opiates, proton pump inhibitors). Laboratory values reveal hyponatremia (serum sodium < 135 mEq/L) without acid-base disorder, hyperglycemia, or other electrolyte disturbances. Due to excessive salt wasting and free water resorption, serum osmolality, which usually ranges from 270–290 mOsm/kg, is decreased, while urine osmolality is increased (> 300 mOsm/kg). Urine sodium is usually greater than 40 mEq/L in patients with the syndrome of inappropriate antidiuretic hormone. Increased urinary uric acid clearance leads to hypouricemia with a serum uric acid < 4 mg/dL while increased urea clearance causes blood urea nitrogen < 5 mg/dL. Paget Disease of Bone (PDB, Osteitis Deformans) Abnormal bone remodeling due to increase in osteoclast activity, followed by increase in osteoblast activity resulting in boney overgrowth Sx: asymptomatic, bone or joint pain, nerve impingement, hearing loss Labs: increased serum alkaline phosphatase and bone-specific alkaline phosphatase X-ray: bone thickening and enlargement with thickened cortices, sclerotic lesions Tx: supportive, PT, bisphosphonates Pheochromocytoma Catecholamine-secreting tumor located in the adrenal glands Sx: paroxysmal headaches, diaphoresis, palpitations, tremors, and vision changes PE: hypertension, orthostasis Dx: ↑ 24h urinary catecholamines and metanephrines, or ↑ plasma metanephrine levels, adrenal CT or MRI Tx: ○ alpha-blocker (phentolamine, phenoxybenzamine) prior to beta-blockade to prevent unopposed alpha-agonism ○ surgical resection Associated with MEN2 (medullary thyroid cancer, pheochromocytoma, +/- primary hyperparathyroidism) Diabetes-Related Ketoacidosis Patient will have diabetes History of infection, ischemia (cardiac, mesenteric), iatrogenic (e.g. steroids), insulin deficit (poor control), intoxication/illegal (cocaine abuse) (five I's) Abdominal pain, vomiting, and fatigue PE will show fruity-smelling breath, dehydration, and AMS Labs will show hyperglycemia, ketonemia, and an anion gap metabolic acidosis Management ○ Treat precipitating cause ○ Correct volume depletion with NS, add dextrose to fluids once glucose is < 200 mg/dL ○ Replete K+ deficit (usually falsely elevated), do not start insulin if K+ < 3.3 mEq/L ○ IV insulin drip until anion gap closes Corrected sodium: add 1.6 mEq/L for each 100 mg/dL in serum glucose HHS = hyperglycemic hyperosmolar syndrome Cushing Syndrome Patient presents with amenorrhea, central obesity, depressive symptoms, and easy bruising PE: purple striae, moon face (facial adiposity), buffalo hump (increased adipose tissue in the neck and upper back), and hypertension Diagnosis: 24-hour urinary free cortisol, late night salivary cortisol, dexamethasone suppression test, ACTH levels Most common noniatrogenic cause is hypercortisolism from ACTH-secreting pituitary tumor If cause is pituitary tumor then it's called Cushing disease Acromegaly Patient presents with increased head, glove, or shoe size PE will show coarse facial features, oily skin, visual field deficits, diabetes Labs will show increased IGF-1 Most commonly caused by a pituitary adenoma Treatment is transsphenoidal resection Osteoporosis Decline in bone mass that results in increased bone fragility and fracture risk Risk factors: female sex, advancing age, chronic steroid use, excessive alcohol or tobacco use, parental history of hip fracture, immobility, history of falls Diagnosis is made by DXA scan: T-score ≤ −2.5 or presence of a fragility fracture ○ Low bone mineral density: T-score −1.0 to −2.5 Tx: ○ Lifestyle: calcium, vitamin D, weight-bearing exercise, smoking cessation ○ First-line pharmacotherapy: bisphosphonates ○ Second line: SERMs, recombinant PTH, denosumab Most common fracture: vertebral body compression fractures USPSTF: screening indicated for women ≥ 65 years and postmenopausal women < 65 years with risk factors ○ Insufficient evidence to recommend screening in men, but can be considered if risk factors present (e.g., androgen deprivation therapy) Subacute Thyroiditis Subacute thyroiditis (subacute granulomatous thyroiditis or de Quervain’s thyroiditis) is an inflammatory thyroid condition presumed to be caused by a viral infection or postviral inflammatory process. It is a relatively uncommon cause of hyperthyroidism and affects women more commonly than men. The development of subacute thyroiditis is often preceded by an upper respiratory infection that occurred two to eight weeks prior to the onset of subacute thyroiditis. The pathogenesis of subacute thyroiditis includes thyroid inflammation damaging thyroid follicles, which results in the release of large amounts of thyroxine (T4) and triiodothyronine (T3) into circulation. This leads to clinical and biochemical hyperthyroidism. The hyperthyroid state is transient, however, since new thyroid hormone synthesis temporarily ceases due to damage to the follicular cells and inhibition of thyroid-stimulating hormone secretion. Reduction in thyroid hormone synthesis causes a hypothyroid state following the hyperthyroid state. As the inflammation subsides, the thyroid follicles regenerate, and thyroid hormone synthesis and secretion resume. In summary, subacute thyroiditis causes a transient hyperthyroid state that is followed by a transient hypothyroid state prior to a return to euthyroid levels. The clinical presentation of subacute thyroiditis includes neck pain, thyroid tenderness, and a diffuse goiter. In addition, fever, fatigue, malaise, anorexia, and myalgia are also common findings. About 50% of patients have symptoms and signs of hyperthyroidism, however, neck pain and thyroid tenderness are the most prominent findings. Laboratory findings initially reveal biochemical evidence of hyperthyroidism (low serum thyroid-stimulating hormone and high serum free thyroxine or triiodothyronine) prior to a transient period of biochemical evidence of hypothyroidism (high thyroid-stimulating hormone and normal or low free thyroxine and triiodothyronine). Other laboratory findings can include elevated acute phase reactants, such as erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP), high serum thyroglobulin, mild anemia, and leukocytosis. Radioactive iodine uptake imaging studies show low uptake in patients with subacute thyroiditis. The diagnosis of subacute thyroiditis is suggested by clinical findings and supported by laboratory findings (low serum thyroid-stimulating hormone) and low uptake on radioactive iodine uptake testing. The diagnosis is confirmed retrospectively when thyroid hormone levels return to normal and anterior neck pain resolves within weeks. Primary Aldosteronism (Conn syndrome) Most commonly caused by an aldosterone-producing adrenal adenoma PE: HTN Labs: hypokalemia (not always present), metabolic alkalosis, Na + ↓ K Dx: ↑ plasma aldosterone concentration and ↓ plasma renin activity CT: adrenal mass Tx: surgery for adenoma, spironolactone for hyperplasia or if not a surgical candidate Metabolic Syndrome ATP III criteria (2001): need at least three of the following five traits ○ Abdominal obesity, measured using waist circumference ○ Serum triglycerides ≥ 150 mg/dL or drug treatment for elevated triglycerides ○ Serum high-density lipoprotein (HDL) cholesterol < 40 mg/dL in men and < 50 mg/dL in women or drug treatment for low HDL cholesterol ○ Blood pressure ≥ 130/85 mm Hg or drug treatment for HTN ○ Fasting glucose ≥ 100 mg/dL (5.6 mmol/L) or drug treatment for elevated blood glucose ○ ○ ○ ○ ○ Abdominal obesity or waist circumference ≥ 102 cm in men ≥ 88 cm in women Serum triglycerides ≥ 150 mg/dL OR Drug treatment for elevated triglycerides Serum high-density lipoprotein (HDL) cholesterol < 40 mg/dL in men < 50 mg/dL in women OR Drug treatment for low HDL cholesterol Blood pressure ≥ 130/85 mm Hg OR Drug treatment for elevated blood pressure Fasting plasma glucose ≥ 100 mg/dL OR Drug treatment for elevated blood glucose SIADH presents with hyponatremia