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Key Features

  • Rare autosomal recessive disorder in which platelets are unable to aggregate because of lack of receptors (containing glycoproteins IIb and IIIa) for fibrinogen, which form bridges between platelets during aggregation/platelet plug formation

Clinical Findings

  • Onset of bleeding is usually in infancy or childhood

  • Degree of deficiency in IIb/IIIa may not correlate well with bleeding symptoms

  • Bleeding

    • Mucosal (epistaxis, gingival)

    • Menorrhagia

    • Postoperative

    • Variable severity but may be severe

Diagnosis

  • Platelet aggregation studies show marked impairment of aggregation in response to stimulation with various agonists

Treatment

  • Platelet transfusions when necessary

  • Desmopressin acetate (DDAVP), antifibrinolytic agents, and recombinant human activated factor VII also have been used successfully

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