Homocystinuria differential diagnosis

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

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	Similar Features	Differentiating Features

Homocystinuria	On physical examination, demonstrates diffuse bone pain and musculoskeletal symptoms	–
Osteoporosis	On physical examination, demonstrates acute musculoskletal pain, if fracture happened On imaging studies, demonstrates severe decrease in BMD	On physical examination, demonstrates visual impairment On laboratory studies, demonstrates high amounts of homocysteine in urine
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	On physical examination, demonstrates diffuse bone pain, fatigue, and fractures are the common symptoms On imaging studies, demonstrates low bone mineral density (BMD)	On imaging studies, demonstrate the brief bone mass loss in bones
Scurvy	On physical examination, demonstrates bone pain and frequent fractures due to brittle bone On imaging studies, demonstrates low bone mineral density (BMD)	On physical examination, demonstrates other mucosal disruption symptoms, such as bleeding gums On imaging studies, demonstrates normal bone mineral density (BMD)
Osteogenesis imperfecta	On physical examination, demonstrates Short stature, scoliosis, and propensity for fractures	On physical examination, demonstrates tooth defects, hearing defects, and blue sclera On laboratory studies, demonstrates near normal bone mineral density (BMD)
Multiple myeloma	On physical examination, demonstrates diffuse bone pain and tenderness On imaging studies, demonstrates osteolytic lesions in the bones	On laboratory studies, demonstrates monoclonal IgM overload in electrophoresis, and also Bence-Jones protein in urine

References

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