MSS Pathology Flashcards
What is Achondroplasia?
- Failure of longiudinal bone growth 9endochonrdal ossification)→ short limbs
- Membranous ossification is not affected→ large head relative to limbs
- Common cause of dwarfism
- Normal life span & fertility
**Growth Factor involved in Achondroplaisa **
Constitutive activation of fibroblast GF receptor (FGFR3) acutally inhiits chondrocyte proliferation
Pattern of Inheritance of Achondroplaisa
- AD inheritance
- 85% occur sporatidaclly & assoc w/ advanced paternal age
What is Osteoporosis?
Trabecular (spongy) bone loses mass & interconnections despite normal bone mineralization & lab values ( serum Ca2+ & PO43-)
What are Vertebral Crush Fractures?
- Acute back pain
- Loss of height
- Kyphosis
- Caused by osteoporosis
What is Type I Osteoporosis?
- Postmenopausal: inc bone resportion d/t dec estrogen levels
- Femoral neck fracture, distal radius (Colles’) fractures
What is Type II Osteoporosis?
- Senile osteoporosis
- Affects men & women >70 years of age
Prophylaxis for Type II Osteoporosis
Regular wt bearing exercise & adequate Ca & Vit D intake throughout adulthood
Tx for Osteoporosis Type II
- Estrogen (SERMs) &/or calcitonin
- Bisphosphonates or pulsatile PTH for severe cases
- Glucocorticoids are contraindicated
What is Osteopetrosis?
Failure of normal bone resorption d/t defective osteoclasts→ thicekened, dense bones taht are prone to fracture
What does Osteopetrosis look like?
Bone fills marrow space, causing pancytopenia, extramedullary hematopoiesis
What do the mutations in Osteopetrosis do?
Impair ability of osteoclast to generate acidic environment necessary for resorption (e.g. carbonic anyhydrase II)
Look of Osteopetrosis on X-ray
Bone-in-bone appearance
Osteopetrosis can result in:
- Crainial nerve impingement
- Palsies as a result of narrowed formaina
Tx for Osteopetrosis
BM transplant is potentialy curative as osteoclasts are derived from monocytes
What can Vit D deficiency cause?
- Rickets in children
- Osteomalacia in adults
Pathway of Vit D Deficiency
- dec Vit D→ dec serum Ca→ Inc PTH secretion → dec serum phosphate
- Hyperactivity of osteoclasts→ inc alk phos
- defective mineralization/ calcification of osteoid l/t soft bones that bow out
What is Osteitits deformans?
- Pagent’s dz of bone
- Common, localized disorder of bone remodeling caused by inc both osteoblastic & osteoclastic activity
Lab Values of Osteitis deformans
Normal serum Ca, P & PTH levels w/ inc ALP
What does osteitis deformans look like?
- Mosaic (“woven”) bone pattern
- Long bone chalk-stick fractures
What can Osteitis deformans cause?
- Inc blood flow from inc arteriovenous shunts may cause high-output HF
- Inc risk of osteogenic sarcoma
- Hat size can be Inc
- Hearing loss is common d/t auditory foramen narrowing
What is osteitis fibrosa cystica?
- “Brown tumors” of hyperparathyroidism
- Inc serum Ca, ALP, PTH & dec P
What is Polyostotic fibrous dysplasia?
Bone replaced by fibroblasts, collagem, & irregular bony trabeculae
What is McCune-Albright Syndrome?
Form of polycystic fibrous dysplasia char by mulitple unilateral bone lesions assoc w/ endocrine ABN (precociou puberty) & café-au-lait spots