Diseases (All Courses)

Question 1

Consequence of steroid use in a patient with systemic Lupus erythematosus?

Answer 1

Avascular necrosis of the hip

Question 2

Clinical signs of septic shock? How is SIRS different?

Answer 2

Hypotension, diffuse intravascular coagulation (DIC), metabolic acidosis; SIRS has similar presentation but no infectious cause

Question 3

Cause and symptoms of Chediak-Higashi syndrome

Answer 3

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

Question 4

Cause and symptoms of Leukocyte Adhesion Deficiency

Answer 4

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

Question 5

Cause and symptoms of chronic granulomatous disease

Answer 5

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

Question 6

What test is used for chronic granulomatous disease? How is that related to MPO deficiency?

Answer 6

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)

Question 7

What disease is caused by a loss of RAG?

Answer 7

Severe Combined Immunodeficiency (SCID)

Question 8

What are CD19 and CD20? What disease are the associated with?

Answer 8

Markers that show up on pro B cells and continue to be expressed through memory B cells; lymphoma

Question 9

Cause and symptom(s) of hereditary angioedema

Answer 9

C1 inhibitor deficiency; lip/periorbital swelling

Question 10

DAF function? What disease is associated?

Answer 10

Delay Accelerating Factor inhibits C3 convertase; paroxysmal nocturnal hematuria (excessive complement activation, lysis of RBCs)

Question 11

CD59 function? What disease is associated?

Answer 11

CD59 inhibits formation of MAC; paroxysmal nocturnal hematuria (excessive complement activation, lysis of RBCs)

Question 12

Cause, symptoms and treatment of Addison’s disease

Answer 12

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

Question 13

Difference between Cushing’s Disease and Cushing’s syndrome

Answer 13

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

Question 14

“Blue cheese syndrome”

Answer 14

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

Question 15

Cause and symptoms of Reye syndrome

Answer 15

Occurs after viral infection in patients < 18 who’ve taken ASA; progressive encephalitis and hepatic dysfunction

Question 16

Symptoms and conditions associated with Rheumatoid Arthritis

Answer 16

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)

Question 17

Osteoarthritis symptoms and treatment

Answer 17

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

Question 18

What diseases/conditions predispose an individual to gout?

Answer 18

Sickle Cell Disease, Multiple Myeloma, CHD, hypertension, dehydration, use of thiazide diuretics

Question 19

Gout symptoms and diagnostic test(s)

Answer 19

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)

Question 20

“Hearing loss, bossing of frontal skull…”

Answer 20

Paget’s disease (hearing loss d/t fusion of ossicles)

Question 21

What is Paget’s disease? Possible causes? Clinical indications?

Answer 21

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

Question 22

Paget’s disease associated conditions

Answer 22

Paget’s predisposes you to osteogenic sarcoma and heart failure

Question 23

Giant cell/temporal arteritis symptoms? What disease is associated?

Answer 23

Headache, difficulty chewing food; polymyalgia rheumatica

Question 24

Polymyalgia rheumatica clinical signs and treatment

Answer 24

Muscle stiffness, pain in hip/shoulder girdle, age (70ish), elevated sed rate (or “ESR,” above 80 mm/hr); steroids

Question 25

“Bamboo spine”

Answer 25

Ankylosing spondylitis

Question 26

Protein associated with ankylosing spondylitis

Answer 26

HLAB27

Question 27

Ankylosing spondylitis symptoms

Answer 27

Low back pain w/o trauma in middle-aged man that is worst in the morning (better throughout day), can cause stooping, affecting respiration

Question 28

Syphillis clinical signs

Answer 28

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)

Question 29

What are Koplik spots?

Answer 29

Ulcerated mucosal lesions in oral cavity characteristic of Measles (remember it’s cytopathic)

Question 30

Difference between primary and secondary gout?

Answer 30

Primary is idiopathic, secondary is “secondary to” hyperuricemia

Question 31

Toxic shock syndrome symptoms? Possible causes?

Answer 31

Hypotension, rash, coagulopathy, respiratory distress, renal failure; Staph, “woman who leaves a tampon in”

Question 32

SLE highly diagnostic tests

Answer 32

Anti-Sm Ab, Anti-dsDNA Ab, Anti-phospholipid Ab (causes VDRL test for syphillis to be falsely positive)

Question 33

SLE clinical evidence

Answer 33

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”)

Question 34

Specific test for Rheumatoid Arthritis

Answer 34

anti-cyclic citrullinated peptide Ab

Question 35

Sjogren’s syndrome specific test

Answer 35

anti-SSA, anti-SSB Ab

Question 36

Sjogren’s syndrome presentation

Answer 36

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

Question 37

Scleroderma specific tests

Answer 37

anti-topoisomerase and anti-centromere Ab

Question 38

Scleroderma clinical presentation

Answer 38

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

Question 39

Dermatomyositis clinical presentation, associated conditions/risks, and difference from polymyositis

Answer 39

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

Question 40

Hashimoto thyroiditis increases risk of what disease?

Answer 40

B cell lymphoma

Question 41

Drug-induced LE specific test

Answer 41

anti-histone Ab

Question 42

Diffuse scleroderma specific test

Answer 42

anti-topoisomerase Ab

Question 43

CREST syndrome specific test

Answer 43

anti-centromere Ab