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Condition/Disorder Synonyms

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  • Hemophilia A

  • Classic hemophilia

  • Hemophilia B

  • Christmas disease

  • Coagulation defects

  • Disorders of blood coagulation

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ICD-9-CM Codes

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  • 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

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ICD-10-CM Codes

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  • 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

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Preferred Practice Pattern1

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Key Features

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Description

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  • 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

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Essentials of Diagnosis

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  • 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%

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General Considerations

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  • 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

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Demographics

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  • 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

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Clinical Findings

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Signs and Symptoms

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  • Pain

  • Erythema

  • Edema

  • Bruises easily

  • Bleeding into joints or muscles without history of injury

  • Excessive bleeding that results from injury

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Functional Implications

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  • Joint contractures

  • Hematoma of muscles can cause compartment syndrome3

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Possible Contributing Causes

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  • 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

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Differential Diagnosis

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  • Platelet disorder

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Means of Confirmation or Diagnosis

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Laboratory Tests

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  • Platelet count

  • Clotting time

  • Bleeding time

  • Prothrombin time

  • Partial thromboplastin time

  • Thrombin time

  • DNA analysis

  • Factor assays

  • Fibrinogen test

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Imaging

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  • Standard radiograph for hemarthropathy

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

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Findings and Interpretation

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  • Factor VIII deficiency: prolonged partial thromboplastin time, ...

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