Pathology Flashcards
Achondroplasia
AD FGFR3 mutation (chromosome 4)- large head, short limbs
Osteoporosis
Trabecular bone loses mass (trabecular thinning) but normal bone mineralization and labs, DEXA
Type I osteoporosis
Post-menopausal - increased resorption due to decreased estrogen (overexpression of RANK receptor)
Type II osteoporosis
Old age - prophylax with weight bearing exercise, Ca, Vitamin D - treatw ith bisphosphonates, PTH analogs, SERMs
Osteopetrosis
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
Osteomalacia/rickets
Vit D deficiency - defective mineralization of osteoid - bowed legs, bony prominence at costochondral junction, indentations in lower ribs, soft skull, increased ALP and PTh
Paget disease of bone
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
Stages of Paget’s disease
Lytic, Mixed, Sclerotic, Quiescent
Osteonecrosis
MC in femoral head (insufficient medial circumflex femoral artery) - ASEPTIC causes (Alcoholism, Sickle cell, Storage, Exogenous corticosteroids, Pancreatitis, Trauma, Idiopathic, Caisson)
Osteoporosis lab values
ALL NORMAL - decreased bone mass
Osteopetrosis lab values
Normal or decreased Ca - all others normal
Paget disease lab values
Increased ALP
Osteomalacia/rickets lab values
Decreased Ca/P and Increased ALP/PTH
Hypervitaminosis D lab values
Increased Ca/P and Decreased PTH
Osteitis fibrosa cystica
Brown tumors due to fibrous replacement of bone
Primary hyperparathyroidism lab values
Decreased P - Increased Ca, ALP, PTH
Secondary hyperparathyroidism lab values
Decreased Ca - Increased P, ALP, PTH — often a compensation for end stage renal disease
Giant cell tumor
Epiphyseal end of long bones - benign tumor (often in knee) - SOAP BUBBLE on xray - multinucleated giant cells
Osteochondroma
MC benign tumor (males less than 25) – mature bone with cartilaginous cap, rarely becomes chondrosarcoma
Osteosarcoma
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
Ewing sarcoma
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