Pathology

Question 1

Achondroplasia

Answer 1

AD FGFR3 mutation (chromosome 4)- large head, short limbs

Question 2

Osteoporosis

Answer 2

Trabecular bone loses mass (trabecular thinning) but normal bone mineralization and labs, DEXA

Question 3

Type I osteoporosis

Answer 3

Post-menopausal - increased resorption due to decreased estrogen (overexpression of RANK receptor)

Question 4

Type II osteoporosis

Answer 4

Old age - prophylax with weight bearing exercise, Ca, Vitamin D - treatw ith bisphosphonates, PTH analogs, SERMs

Question 5

Osteopetrosis

Answer 5

Defective osteoclasts due to carbonic anhydrase 2 mutation (can’t make acidic environment) - dense bones prone to fracture, bone in bone on x-ray, can cause CN impingement and palsies

Question 6

Osteomalacia/rickets

Answer 6

Vit D deficiency - defective mineralization of osteoid - bowed legs, bony prominence at costochondral junction, indentations in lower ribs, soft skull, increased ALP and PTh

Question 7

Paget disease of bone

Answer 7

Increased osteoblastic and osteoclastic (very large and can have up to 100 nuclei - RANKL and M-CSF) activity - increased ALP, mosaic pattern of bone, increased risk of osteosarcoma and heart failure

Question 8

Stages of Paget’s disease

Answer 8

Lytic, Mixed, Sclerotic, Quiescent

Question 9

Osteonecrosis

Answer 9

MC in femoral head (insufficient medial circumflex femoral artery) - ASEPTIC causes (Alcoholism, Sickle cell, Storage, Exogenous corticosteroids, Pancreatitis, Trauma, Idiopathic, Caisson)

Question 10

Osteoporosis lab values

Answer 10

ALL NORMAL - decreased bone mass

Question 11

Osteopetrosis lab values

Answer 11

Normal or decreased Ca - all others normal

Question 12

Paget disease lab values

Answer 12

Increased ALP

Question 13

Osteomalacia/rickets lab values

Answer 13

Decreased Ca/P and Increased ALP/PTH

Question 14

Hypervitaminosis D lab values

Answer 14

Increased Ca/P and Decreased PTH

Question 15

Osteitis fibrosa cystica

Answer 15

Brown tumors due to fibrous replacement of bone

Question 16

Primary hyperparathyroidism lab values

Answer 16

Decreased P - Increased Ca, ALP, PTH

Question 17

Secondary hyperparathyroidism lab values

Answer 17

Decreased Ca - Increased P, ALP, PTH — often a compensation for end stage renal disease

Question 18

Giant cell tumor

Answer 18

Epiphyseal end of long bones - benign tumor (often in knee) - SOAP BUBBLE on xray - multinucleated giant cells

Question 19

Osteochondroma

Answer 19

MC benign tumor (males less than 25) – mature bone with cartilaginous cap, rarely becomes chondrosarcoma

Question 20

Osteosarcoma

Answer 20

10-20 years old and > 65 (Pagets) - risks are infarction, radiation, familial Rb, and Li-Fraumeni syndrome - found in metaphyses of long bones (knee) - CODMAN TRIANGLE - SUNBURST on xray - VERY AGGRESSIVE

Question 21

Ewing sarcoma

Answer 21

Boys less than 15 – common in diaphysis of long bones, pelvis, scapula, and ribs – anaplastic small blue cell malignant tumor – very aggressive but responds to chemo – onion skin periosteal reaction in bone — t(11;22) translocation fusing EWS-FLI 1

Question 22

Osteoarthritis joint findings

Answer 22

Subchondral cysts, sclerosis, osteophytes, eburnation, synovitis
Heberden nodes (DIP) and Bouchard nodes (PIP)

Question 23

Osteoarthritis clinical

Answer 23

Pain in weight bearing joints AFTER USE, improve with rest, bowlegged, no inflammation - risks are age/obesity/trauma

Question 24

Osteoarthritis treatment

Answer 24

Acetaminophen, NSAIDs, intra-articular glucocorticoids

Question 25

Rheumatoid arthritis joint findings

Answer 25

Pannus formation in joints (MCP, PIP), subcutaneous nodules, ulnar deviation of fingers, subluxation

Question 26

Rheumatoid arthritis clinical

Answer 26

TYPE III and IV HYPERSENSITIVITY - Females, positive rheumatoid factor (IgM against Fc of IgG) - ANTI-CCP IS MORE SPECIFIC - Associated with HLA-DR4 - Morning stiffness that improves with use, symmetric joints, systemic symptoms

Question 27

Rheumatoid arthritis treatment

Answer 27

NSAIDs, glucocorticoids, methotrexate, sulfasalazine, TNF-a inhibitors

Question 28

Sjogren syndrome

Answer 28

Exocrine gland destruction - FEMALES - inflammatory joint pain, xerophthalmia, xerostomia, SS-A and/or SS-B positive, bilateral parotid enlargement ---- can have dental caries or MALT lymphoma

Question 29

Gout findings

Answer 29

MONOarthritis - monosodium urate crystals - males - hyperuricemia from underexcretion (thiazides) or overpdocution (Lesch-Nyhan, PRPP excess, tumor lysis, von Gierke) ---- needle shaped and negative birefringent crystals

Question 30

Gout symptoms

Answer 30

Asymmetric joints - swollen, red, painful joints (big toe) - tophus formation --- worse with large meals or alcohol (AVOID RED MEATS) - neutrophils are responsible for inflammation

Question 31

Gout treatment

Answer 31

Acute - NSAIDs (indomethacin), glucocorticoids, colchicine | Chronic - XO inhibitors (allopurinol, febuxostat), probenecid, rasburicase

Question 32

Pseudogout

Answer 32

Calcium pyrophosphate crystals (basophilic, rhomboid crystals, weakly birefringent) - KNEE - can be in hemochromatosis, hyperPTH, osteoarthritis Treatment - NSAIDs, glucocorticoids, colchicine

Question 33

Infectious arthritis

Answer 33

S. aureus, Strep, N. gonorrhoeae | Gonococcal arthritis is STD (Synovitis, Tenosynovitis, Dermatitis)

Question 34

Sponyloarthropathies

Answer 34

PAIR - Psoriatic arthritis, Ankylosing spondylitis, IBD, Reactivie arthritis HLA-B27 positive

Question 35

Psoriatic arthritis

Answer 35

Sausage fingers, pencil in a cup on xray

Question 36

Ankylosing spondylitis

Answer 36

Spine and sacroiliac joints (Bamboo spine on xray) - respiratory (decreased chest wall expansion), CV (ascending aortitis), eye (uveitis)

Question 37

Reactive arthritis (Reiter syndrome)

Answer 37

Males in 20s-30s - "Can't see, can't pee, can't bend my knee" - Conjunctivitis, Urethritis, Arthritis (sterile joint aspirates) - Post GI or chlamydial infections

Question 38

Lupus symptoms

Answer 38

RASH OR PAIN - Rash (malar or discoid), Arthritis (2 or more joints), Soft tissues/serositis (pericarditis, pleuritis), Hematologic disorders (pancytopenia - type II HS), Oral ulcers, Renal disease/Raynaud phenomenon, Photosensitivity/Positive VDRL/RPR, Antinuclear antibodies, Immunosuppressants, Neurologic disorders

Question 39

Lupus clinical

Answer 39

FEMALES, Libman Sacks endocarditis (nonbacterial vegetations on BOTH SIDES of valve), Nephritis is type III HS (diffuse proliferative glomerulonephritis or membranous glomerulonephritis) - causes of death are CV disease, infection, renal disease

Question 40

Lupus labs

Answer 40

ANA (sensitive), Anti-dsDNA (specific), Anti-smith (most specific), Antihistone (drug induced lupus - SHIPPE - Sulfa, Hydralazine, Isoniazid, Phenytoin, Procainamide, Ethambutol)

Question 41

Lupus treatment

Answer 41

NSAIDs, steroids, immunosuppressant, hydroxychloroquine, cyclophosphamide

Question 42

Antiphospholipid syndrome

Answer 42

In SLE patients - multiple miscarriages and thrombosis - lab findings: lupus anticoagulant, anticardiolipin (VDRL/RPR false positive), anti-B2 glycoprotein antibodies

Question 43

Sarcoidosis

Answer 43

40 YEAR OLD AFRICAN AMERICAN FEMALE WITH BILATERAL HILAR LYMPHADENOPATHY - noncaseating granulomas, elevated serum ACE and CD4/CD8 ratio - Schaumann and asteroid bodies, uveitis, hypercalcemia - Tx is steroids

Question 44

Polymyalgia rheumatica

Answer 44

Pain/stiff shoulders and hips, women > 50, associated w/ temporal arteritis - NORMAL CK - rapid response to low dose corticosteroids

Question 45

Fibromyalgia

Answer 45

PAIN EVERYWHERE (abnormal central processing of pain) - NORMAL LABS - Females 20-50 - can have depression/anxiety - Tx with antidepressants (TCAs, SSRIs) and anticonvulsants

Question 46

Polymyositis

Answer 46

Proximal muscle weakness (endomysial inflammation with CD8 T Cells and increased MHC I) ---- ANA, anti-Jo-1, anti-SRP, anti-Mi2 antibodies ---- tx steroids and immunosuppression

Question 47

Dermatomyositis

Answer 47

Malar rash with proximal muscle weakness (perimysial inflammation with CD4 T cells) - Gottron papules (dorsal MCP), heliotrope rash (periorbital), shawl and face rash, mechanics hands ---- ANA, anti-Jo-1, anti-SRP, anti-Mi2 antibodies ---- tx steroids and immunosuppression

Question 48

Myasthenia gravis

Answer 48

Antibodies to postsynaptic Ach receptor (decrease end plate potential) - ptosis, diplopia, weakness (EOM affected first), WORSE WITH USE!! --- associated with thymoma, thymic hyperplasia -- AChE inhibitor reverses symtpoms -- Tx with Cholinesterase inhibitors (physostygmine, neostigmine, pyridostigmine)

Question 49

Lambert-Eaton

Answer 49

Antibodies to presynaptic Ca channel (decreased ACh release) - proximal muscle weakness (trouble climibing stairs/standing out of a chair), dry mouth, impotence --- SPARES EYES AND IMPROVES WITH USE -- associated with small cell lung cancer

Question 50

Myositis ossificans

Answer 50

Metaplasia of skeletal muscle into bone following trauma

Question 51

Scleroderma

Answer 51

Autoimmunity (accumulation of CD4 lymphocytes leads to fibroblast stimulation), noninflammatory vasculopathy, and collagen deposition with fibrosis --- puffy, taut skin with fingertip pitting --- renal, pulmonary, CV, GI sclerosis -- DIFFUSE (anti-Scl 70 antibody) -- LIMITED (CREST involvement, anti-centromere antibody) -- CREST: Calcinosis, Raynauds, Esophageal dysmotility, Sclerodactyly, Telangiectasia -- pulmonary HTN/vessel damage can also be part of CREST

Question 52

Causes of myopathy

Answer 52

CK normal - glucocorticoid induced and polymyalgia rheumatica ---- CK elevated - inflammation, statin induced, hypothyoroidism

Question 53

Lipoma/liposarcoma

Answer 53

Lipomas are mobile and have mature fat cells without pleomorphism --- liposarcomas are malignant and have lipoblasts (cells that produce non-membrane-bound cytoplasmic lipid), cause nuclear indentations and scalloping of nuclear membranes, present as slow growing painless masses in deep connective tissue