Inherited hemophilias

• 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

• Pattern 4D: Impaired joint mobility, motor function, muscle performance, and range of motion associated with connective tissue dysfunction

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

• Factor VIII deficiency is the most common clotting deficiency
• Severity of hemophilia, plasma level of factor VIII or IX
  • Mild: more than 5%
  • Moderate: between 1% and 5%
  • Severe: less than 1%

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