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Key Features

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Essentials of Diagnosis
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  • Bruising, soft-tissue bleeding, hemarthrosis

  • Prolonged activated partial thromboplastin time (aPTT)

  • Reduced factor VIII activity

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General Considerations
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  • Normal range for factor VIII activity is 0.50–1.50 units/mL (50–150%)

  • Hemophilia A occurs predominantly in males as an X-linked disorder

  • One-third of cases are due to a new mutation

  • Incidence of factor VIII deficiency is 1:5000 male births

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Clinical Findings

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  • Mild hemophilia A (5–40% factor VIII activity): patients mainly bleed at times of trauma or surgery

  • Moderate hemophilia A (1% to < 5% factor VIII activity): patients typically have intermediate bleeding manifestations

  • Severe hemophilia A (< 1% plasma factor VIII activity): patients have frequent spontaneous bleeding episodes involving skin, mucous membranes, joints, muscles, and viscera in the absence of factor VIII

  • Tendency to develop recurrent hemarthroses that incite joint destruction is most crippling aspect of disease

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Diagnosis

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  • Prolonged aPTT, except in some cases of mild deficiency

  • Prothrombin time is normal

  • Diagnosis is confirmed by finding decreased factor VIII activity with normal von Willebrand factor (vWF) activity

  • In a male fetus or newborn with a family history of hemophilia A, cord blood sampling for factor VIII activity is accurate and important in subsequent care

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Treatment

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  • General aim is to raise the factor VIII activity to prevent or stop bleeding

  • Some patients with mild factor VIII deficiency

    • May respond to desmopressin via release of endothelial stores of factor VIII and vWF into plasma

    • However, most patients require administration of exogenous factor VIII to achieve hemostasis

  • Non–life-threatening, non–limb-threatening hemorrhage is treated initially with 20–30 units/kg of factor VIII, to achieve a rise in plasma factor VIII activity to 40–60%

  • Large joint hemarthrosis and life- or limb-threatening hemorrhage is treated initially with approximately 50 units/kg of factor VIII, targeting a rise to 100% factor VIII activity

  • Prophylactic factor VIII infusions (eg, two or four times weekly)

    • May prevent the development of arthropathy in severe hemophiliacs

    • Standard of care in pediatric hemophilia

  • Extended half-life factor VIII concentrates have been approved by the FDA with the hope of decreasing infusions and improving clinical outcomes caused by bleeding

  • Immunization with hepatitis A and hepatitis B vaccines is recommended for all hemophilia patients

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Outcome

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Complications
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  • Intracranial hemorrhage is the leading disease-related cause of death among patients with hemophilia

  • Hemarthroses begin early in childhood and, particularly when recurrent, can result in joint destruction (ie, hemophilic arthropathy).

  • Large intramuscular hematomas can lead to a compartment syndrome with resultant neurologic compromise

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Prognosis
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  • The development of safe and effective therapies has resulted in improved long-term survival

  • In addition, more aggressive management and the coordination of comprehensive care through hemophilia centers have greatly improved quality of life and level of function

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References

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Blanchette  VS: Meeting unmet needs in inhibitor patients. Haemophilia 2010;16(Suppl 3):46–51
[PubMed: 20586802]
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Srivastava  A: Guidelines for the management of hemophilia. 2012;19(1):1–47
[PubMed: 22776238] .

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