Hemophilia is caused by a deficiency of
clotting factor VIII or IX and is inherited by a sex-linked recessive pattern.
von Willebrand disease, a common, moderate
bleeding disorder, is caused by a quantitative or qualitative
protein deficiency of
von Willebrand factor and is inherited in an autosomal dominant or recessive manner. The most important clinical strategy for the management of patients with
hemophilia is the avoidance of recurrent
hemarthrosis by continuous, intravenous hematologic prophylaxis. Early
hemarthrosis should be aggressively managed with aspiration and
clotting factor concentrate until the joint examination is normal. Starting prophylactic factor replacement in infancy may prevent chronic
synovitis and
arthropathy. The natural history of poorly controlled disease is polyarticular hemophilic
arthropathy; functional prognosis is poor. Patients with chronic
synovitis may be treated effectively with radiosynovectomy; those who develop joint surface erosions may require realignment
osteotomies, joint
arthroplasty, and treatment of pseudotumors. Reconstructive surgery for hemophilic
arthropathy, especially in patients with factor inhibitor, requires careful hematologic management by an experienced, multidisciplinary team.