胶原受体缺乏所致自发性出血

定义 英文原文（暂无中文）

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.

基本事实

遗传方式

常染色体显性、常染色体隐性

发病年龄

各年龄段

患病率

<1 / 1 000 000

外部标识与链接