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  • Hemophilia A
  • Classic hemophilia
  • Hemophilia B
  • Christmas disease
  • Coagulation defects
  • Disorders of blood coagulation

  • 286.0 Congenital factor VIII disorder
  • 286.1 Congenital factor IX disorder
  • 286.2 Congenital factor XI deficiency
  • 286.3 Congenital deficiency of other clotting factors
  • 286.4 Von Willebrand’s disease

  • D66 Hereditary factor VIII deficiency
  • D67 Hereditary factor IX deficiency
  • D68.0 Von Willebrand’s disease
  • D68.1 Hereditary factor XI deficiency
  • D68.2 Hereditary deficiency of other clotting factors

Description

  • Disorders involving slower than normal blood clotting that occurs spontaneously or as an excessive response to injury, leading to bleeding into joints (hemarthrosis) or tissues

Essentials of Diagnosis

General Considerations

  • Genetic factor deficiencies occur almost exclusively in males with females as asymptomatic carriers
  • Hemophilia classified as mild (asymptomatic), moderate (excessive bleeding after minor injury,) or severe
  • Bleeding into joint results in fibrosis
  • Von Willebrand’s disease results in bleeding into skin or mucous membranes rather than joints or muscles

Demographics

  • Inherited
  • Factor VIII deficiency occurs in 1 of every 5,000-10,000 males
  • Factor IX deficiency occurs in 1 of every 50,000 people2
  • Von Willebrand’s disease most common bleeding disorder in Caucasians4
  • Von Willebrand’s disease seen in both males and females7

Signs and Symptoms

  • Pain
  • Erythema
  • Edema
  • Bruises easily
  • Bleeding into joints or muscles without history of injury
  • Excessive bleeding that results from injury

Functional Implications

  • Joint contractures
  • Hematoma of muscles can cause compartment syndrome3

Possible Contributing Causes

  • Genetic x-linked recessive (such as factor VIII, or IX deficiencies) or autosomal dominant disorder (such as Von Willebrand’s disease)
  • Multiple episodes of bleeding in same joint can cause hemophilic arthritis (hemarthropathy) 7

Differential Diagnosis

  • Platelet disorder

Laboratory Tests

  • Platelet count
  • Clotting time
  • Bleeding time
  • Prothrombin time
  • Partial thromboplastin time
  • Thrombin time
  • DNA analysis
  • Factor assays
  • Fibrinogen test

Imaging

  • Standard radiograph for hemarthropathy
  • Magnetic resonance imaging (MRI) or computerized axial tomography (CT scan) for head trauma or organ involvement

  • Factor VIII deficiency: prolonged partial thromboplastin time, normal prothrombin and bleeding times
  • Von Willebrand’s disease: prolonged partial thromboplastin and bleeding times, normal prothrombin time

Medications

  • Injection or infusion of blood concentrate of the deficient factor
  • Desmopressin acetate for Von Willebrand’s disease4 or factor VIII deficiency5
  • Amicar

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