Hemophilia

Hemophilia is a hereditary bleeding disorder caused by a deficiency of

Hemophilia A (Factor VIII deficiency) and Hemophilia B (Factor IX deficiency) are X-linked recessive disorders. They present with prolonged bleeding after minor trauma, spontaneous hemarthroses (especially in knees, ankles, and elbows), and deep muscle hematomas.

Musculoskeletal Implications:
Recurrent joint bleeding leads to synovial inflammation, cartilage degradation, and ultimately hemophilic arthropathy, characterised by joint stiffness, pain, and deformities.

Radiological Findings:
X-rays may show joint space narrowing, osteoporosis, and erosions. MRI is more sensitive for detecting early synovial hypertrophy and hemosiderin deposition.

Management:

Prophylactic replacement of missing clotting factors (especially in children).
On-demand factor therapy during bleeds.
Physiotherapy to maintain joint function.
Synovectomy or joint replacement in advanced arthropathy.

Orthopaedic surgeons must be aware of haemostasis protocols before any intervention.