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Bleeding diathesis due to a collagen receptor defect

ORPHA:73271· ICD-10 D69.8

Definition

A rare, genetic coagulation disorder characterized by a mild to moderate bleeding tendency due to impaired platelet activation and aggregation in response to collagen, or impaired platelet-vessel wall interaction, resulting from a collagen receptor defect. Patients manifest with ecchymoses, epistaxis, menorrhagia, and/or post-traumatic and post-surgery bleeding complications. Laboratory analysis reveals prolonged bleeding time and, occasionally, mild thrombocytopenia.

Prevalence
<1 / 1 000 000
Inheritance
Autosomal dominant, Autosomal recessive
Age of onset
All ages