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