Homocystinuria differential diagnosis

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Differentiating Homocystinuria from other Diseases

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

Overview

Homocysteinuria must be differentiated from other diseases that cause lowering bone mineral density (BMD), such as osteoporosis, scurvy, osteogenesis imperfecta, multiple myeloma, and osteomalacia.

Differential Diagnosis

Differential Diagnosis Similar Features Differentiating Features
Osteoporosis
  • On physical examination, demonstrates acute musculoskletal pain, if fracture happened
  • On imaging studies, demonstrates severe decrease in BMD
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Idiopathic transient osteoporosis of hip
  • On physical examination, demonstrates acute hip pain
  • On imaging studies, demonstrates sub-chondoral cortical loss and diffuse osteopenia of the femoral neck
  • On history, demonstrates mostly involvement of pregnant women and young men
  • On history, demonstrates to be self-limiting in 6-8 months
Osteomalacia
Scurvy
Osteogenesis imperfecta
Multiple myeloma
  • On physical examination, demonstrates diffuse bone pain and tenderness
  • On imaging studies, demonstrates osteolytic lesions in the bones
Homocystinuria

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