Hemophilia: skeletal manifestations

Case contributed by Dr Salman S. Albakheet


Clinical suspicion of fracture. Known case of hemophilia.

Patient Data

Gender: Male

Generalized reduced bone density. Mildly enlarged/deformed distal femoral epiphysis and proximal and distal epiphyses of tibia and fibula are noted. There is relative thinning of the proximal half of fibula. No significant soft tissue swelling or knee joint effusion is appreciable. 

Severe thoracic scoliosis. Deformed fingers and toes are noted.

Case Discussion

Any chronic disease that keeps a child bedridden a lot during their growth phase (leukemia, juvenile chronic arthritis, hemophilia, etc.) may give them mildly dysplastic bones that look like one of the neuromuscular diseases, such as paraplegia.

Early findings of hemophilia include joint effusion and hemarthrosis, followed by articular
and periarticular changes (including synovial hypertrophy and hemosiderin deposition). In later stages, there is epiphyseal overgrowth and osteopenia (due to hyperemia), early closureof physeal plate, destructive changes like loss of cartilage, subchondral cyst formation, and bone erosions. 

Features that favor hemophilic arthropathy on radiograph include epiphyseal overgrowth and osteopenia, widened intercondylar notch, soft-tissue swelling, flattening of the condylar
surface, squaring of the patella, and other destructive changes.

The radiographic mimic of hemophilic arthropathy is juvenile rheumatoid arthritis. 

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Case information

rID: 33103
Published: 1st Jan 2015
Last edited: 2nd Aug 2021
Inclusion in quiz mode: Included

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