Symptoms
Despite this excess bone formation, people with osteopetrosis tend to have bones that are more brittle than normal. Mild osteopetrosis may cause no symptoms, and present no problems. However, serious forms can result in stunted growth, deformity, increased likelihood of fractures, also patients suffers anemia, recurrent infections and hepatosplenomegaly due to bone expansion leading to bone marrow narrowing and extramedullary hematopoiesis. It can also result in blindness, facial paralysis, and deafness, due to the increased pressure put on the nerves by the extra bone.
|
Calcium | Phosphate | Alkaline phosphatase | Parathyroid hormone | Comments |
|---|---|---|---|---|---|
| Osteoporosis | unaffected | unaffected | variable | unaffected | decreased bone mass |
| Osteopetrosis | unaffected | unaffected | elevated | unaffected | thick dense bones also known as marble bone |
| Osteomalacia and rickets | decreased | decreased | variable | elevated | soft bones |
| Osteitis fibrosa cystica | elevated | decreased | elevated | elevated | brown tumors |
| Paget's disease of bone | unaffected | unaffected | variable (depending on stage of disease) | unaffected | abnormal bone architecture |
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