Haemophilia: skeletal manifestations

Case contributed by Salman S. Albakheet
Diagnosis almost certain

Presentation

Clinical suspicion of fracture. Known case of haemophilia.

Patient Data

Gender: Male

Generalised 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 (leukaemia, juvenile chronic arthritis, haemophilia, etc.) may give them mildly dysplastic bones that look like one of the neuromuscular diseases, such as paraplegia.

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

Features that favour 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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