Review Question - QID 105583

This child has hemophilia A. Patients with hemophilia A and B are at risk of recurrent hemarthrosis, with subsequent hemophilic arthropathy, marked by joints with iron deposits and synovial thickening with fibrosis.

Hemophilia is an X-linked recessive coagulopathy caused by a mutation in the gene for factor VIII (hemophilia A) or factor IX (hemophilia B). Hemophilia classically presents in a young male with hemarthoses, intramuscular bleeds, GI bleeds, and excessive bleeding in response to minor trauma. Laboratory finding reveal elevated partial thromboplastin time (PTT) and normal prothrombin time (PT) and bleeding time (see Illustration B for review of the clotting cascade). Treatment for an acute bleed, especially in the case of head trauma, should include factor VIII or factor IX concentrate. Other concentrated factors are available for patients who develop antibodies against these coagulation factors. Chronic sequelae of the disease include hemophilic arthropathy secondary to recurrent hemarthroses (Illustration A).

Ballas and Kraut review the diagnostic work-up for bleeding and bruising in the primary care setting. Their differential diagnosis for bleeding disorders is divided into quantitative platelet disorders (idiopathic thrombocytopenic purpura (ITP), thrombotic thrombocytopenic purpura (TTP), malignancy, viral disease); functional platelet disorders (Bernard-Soulier syndrome, Glanzmann thrombasthenia, von Willebrand's disease, May-Hegglin anomaly, Wiskott-Aldrich syndrome); hemophilias A and B; acquired hemophilias; hereditary hemorrhagic telangietasia; cryoglobulinemias; leukemias; disseminated intravascular coagulation (DIC); and vitamin K deficiency.

Kyaw et al. describe a case series of acquired hemophilia A in which autoantibodies to factor VIII disrupt the coagulation cascade with symptoms similar to those of classic hemophilia A. Because these patients have autoantibodies to the factor VIII concentrate, exogenous factor VII is used for treatment of acute bleeds.

Illustration A depicts the chronic changes associated with recurrent hemarthroses on x-ray. Note the enlargement of epiphysis and striations of the bone. In other cases, hemosiderin deposits of the soft tissue can become visible on radiograph.
Illustration B depicts the coagulation cascade.

Incorrect Answers:
Answer 2: Whereas bleeding time is prolonged in patient with von Willebrand's Disease, bleeding time is normal in patients with hemophilia.
Answer 3: PT is normal in patients with hemophilia and patients with Von Willebrand's disease. PTT is elevated in patients with hemophilia.
Answer 4: Whereas patients with von Willebrand's disease and ITP experience mucosal bleeding, patients with hemophilia are at risk for intramuscular bleeds and hemarthroses.
Answer 5: Von Willebrand's disease is associated with bleeding worse with aspirin, but hemophilia is not.