Diseases (All Courses) Flashcards
Consequence of steroid use in a patient with systemic Lupus erythematosus?
Avascular necrosis of the hip
Clinical signs of septic shock? How is SIRS different?
Hypotension, diffuse intravascular coagulation (DIC), metabolic acidosis; SIRS has similar presentation but no infectious cause
Cause and symptoms of Chediak-Higashi syndrome
Autosomal recessive mutation in LYST gene causes microtubule defect, resulting in poor phagolysosome formation (trafficking defect); increased risk of pyogenic infections, neutropenia, giant granules in leukocytes, defective primary hemostasis, albinism, peripheral neuropathy
Cause and symptoms of Leukocyte Adhesion Deficiency
Type 1: autosomal recessive defect in CD18 (beta-2 chain) subunit of interns (Mac-1 and LFA-1); type 2: absence of Sialyl Lewis X, ligand for E- and P- selectins, d/t a defect in fucosyl transferase; delayed separation of umbilical cord, neutrophilia, recurrent bacterial infection w/o pus formation
Cause and symptoms of chronic granulomatous disease
Defect in NADPH oxidase causes issue with O2-dependent killing; Macrophage-rich infections (b/c neutrophil defense is shitty), especially with catalase positive organisms (e.g. Staph Aureus, Pseudomonas Cepacia) because catalase degrades H2O2
What test is used for chronic granulomatous disease? How is that related to MPO deficiency?
Nitroblue tetrazolium test (if NADPH oxidase manages to make superoxides it will turn blue); MPO deficient patients will pass the nitro blue test but are still unable to do O2-dependent killing (interestingly they’re less symptomatic)
What disease is caused by a loss of RAG?
Severe Combined Immunodeficiency (SCID)
What are CD19 and CD20? What disease are the associated with?
Markers that show up on pro B cells and continue to be expressed through memory B cells; lymphoma
Cause and symptom(s) of hereditary angioedema
C1 inhibitor deficiency; lip/periorbital swelling
DAF function? What disease is associated?
Delay Accelerating Factor inhibits C3 convertase; paroxysmal nocturnal hematuria (excessive complement activation, lysis of RBCs)
CD59 function? What disease is associated?
CD59 inhibits formation of MAC; paroxysmal nocturnal hematuria (excessive complement activation, lysis of RBCs)
Cause, symptoms and treatment of Addison’s disease
Primary adrenal insufficiency - autoimmune disease causing adrenal atrophy; fatigue, weight loss, nausea, loss of appetite, hypotension, dizziness on standing, hyperkalemia (only in primary adrenal insufficiency); supplement glucocorticoids
Difference between Cushing’s Disease and Cushing’s syndrome
Cushing’s disease caused by pituitary tumor secreting excess ACTH, syndrome is caused by non-pituitary ACTH secreting tumor (e.g. in lung cancer), adrenal tumor or excess exogenous glucocorticoid
“Blue cheese syndrome”
Tyramine found in blue cheese/beef causes NE release from nerve endings, taking this with an MAO (liver mitochondrial enzyme) inhibitor (e.g. tranylcypromine, phenelzine) can lead to cardiovascular crisis
Cause and symptoms of Reye syndrome
Occurs after viral infection in patients < 18 who’ve taken ASA; progressive encephalitis and hepatic dysfunction
Symptoms and conditions associated with Rheumatoid Arthritis
Bilateral symmetric joint pain (MCP classic, knee elbow wrist PIP ankle spine common) in the morning, lasting for at least an hour (six weeks for dx), causing claw-like appearance of hand, Raynaud’s; Ulnar deviation d/t joint subluxation, lung nodules, pericarditis, anemia (normocytic and normochromic)
Osteoarthritis symptoms and treatment
Tender, crepitus (“crunchy-ness”) of joints with movement, Heberden’s nodes on fingers (esp DIPs and PIPs), degenerative changes of cervical and lumbar spine (bone spurs and disc narrowing); PT and NSAIDs
What diseases/conditions predispose an individual to gout?
Sickle Cell Disease, Multiple Myeloma, CHD, hypertension, dehydration, use of thiazide diuretics
Gout symptoms and diagnostic test(s)
Monoarticular joint redness, swelling, pain (“like needles”), but not stiffness; aspirate joint to check for urate crystals (“negatively birefringent” crystals), also on x-ray bony erosions favor gout (as opposed to osteomyelitis)
“Hearing loss, bossing of frontal skull…”
Paget’s disease (hearing loss d/t fusion of ossicles)
What is Paget’s disease? Possible causes? Clinical indications?
Disordered remodeling of bone (incr. resorption/lytic lesions, disorganized and excessive bone formation) affecting the axial skeleton (skull, spine, pelvis) d/t localized incr. osteoclast activity; viral or autosomal dominant; elevated serum alk phos, incr. uptake on bone scan in affected areas
Paget’s disease associated conditions
Paget’s predisposes you to osteogenic sarcoma and heart failure
Giant cell/temporal arteritis symptoms? What disease is associated?
Headache, difficulty chewing food; polymyalgia rheumatica
Polymyalgia rheumatica clinical signs and treatment
Muscle stiffness, pain in hip/shoulder girdle, age (70ish), elevated sed rate (or “ESR,” above 80 mm/hr); steroids
“Bamboo spine”
Ankylosing spondylitis
Protein associated with ankylosing spondylitis
HLAB27
Ankylosing spondylitis symptoms
Low back pain w/o trauma in middle-aged man that is worst in the morning (better throughout day), can cause stooping, affecting respiration
Syphillis clinical signs
Path - plasma cells; serologic – RPR and VDRL; Chancre (single, non-tendered red lesion on the penis), progresses to palmar rash; if congenital syphilis – Hutchinson teeth (they look bifurcated)
What are Koplik spots?
Ulcerated mucosal lesions in oral cavity characteristic of Measles (remember it’s cytopathic)
Difference between primary and secondary gout?
Primary is idiopathic, secondary is “secondary to” hyperuricemia
Toxic shock syndrome symptoms? Possible causes?
Hypotension, rash, coagulopathy, respiratory distress, renal failure; Staph, “woman who leaves a tampon in”
SLE highly diagnostic tests
Anti-Sm Ab, Anti-dsDNA Ab, Anti-phospholipid Ab (causes VDRL test for syphillis to be falsely positive)
SLE clinical evidence
Malar rash, fever, arthralgia, photosensitivity, pleuritis, pericarditis, necrotizing/fibroid vasculitis, “onion skinning” of spleen, Libman-Sachs endocarditis, glomerulonephritis (can be many types, e.g. “wire loops”)
Specific test for Rheumatoid Arthritis
anti-cyclic citrullinated peptide Ab
Sjogren’s syndrome specific test
anti-SSA, anti-SSB Ab
Sjogren’s syndrome presentation
Dry eyes, dry mouth, causing corneal erosions and oral mucosal erosions, further leading to pneumonia, bronchitis, laryngitis; histologically will see lymphocytic infiltrate with follicle formation in lacrimal, salivary glands as well as upper rest tract and vagina
Scleroderma specific tests
anti-topoisomerase and anti-centromere Ab
Scleroderma clinical presentation
Fibroblast activation and small vessel disease cause: fibrosis of fingers that moves proximally, and if diffuse - esophageal scarring causing dysphagia, cor pulmonale (R sided heart failure), small vessel disease of lungs and kidney, perineurial fibrosis, possible lip thinning
Dermatomyositis clinical presentation, associated conditions/risks, and difference from polymyositis
Heliotrope rash (erythematous edematous around eyes), Grotton nodules (erythematous, scaly on knuckles); vasculitis, myocarditis, dysphasia, pulm fibrosis and an incr. risk for ovarian, lung, stomach ca; polymyositis does not affect the skin
Hashimoto thyroiditis increases risk of what disease?
B cell lymphoma
Drug-induced LE specific test
anti-histone Ab
Diffuse scleroderma specific test
anti-topoisomerase Ab
CREST syndrome specific test
anti-centromere Ab
