Grenko R T, Burns S L, Golden E A, Byers P H, Bovill E G
Department of Pathology, University of Vermont, College of Medicine, Medical Center Hospital of Vermont, Burlington 05405.
Arch Pathol Lab Med. 1993 Oct;117(10):989-92.
The purpose of this study was to investigate a family with type IV Ehlers-Danlos syndrome (EDS-IV) and platelet sensitivity to aspirin, an association that, to our knowledge, has not been reported previously. Type IV Ehlers-Danlos syndrome is a rare disorder of type III collagen metabolism characterized by bruising easily and death at an early age from exsanguination by rupture of a major viscus or artery. Previous studies have suggested an association between various types of Ehlers-Danlos syndrome and abnormal platelet function. In this family, EDS-IV is inherited in an autosomal dominant pattern. The transmission of the platelet functional disorder from the proband to only one of two children affected with EDS-IV in this family suggests that there is a genetic component to this condition that is independent of EDS-IV.
本研究的目的是调查一个患有IV型埃勒斯-当洛综合征（EDS-IV）的家族以及血小板对阿司匹林的敏感性，据我们所知，此前尚未有关于这一关联的报道。IV型埃勒斯-当洛综合征是一种罕见的III型胶原代谢紊乱疾病，其特征为容易出现瘀伤，且早年因主要脏器或动脉破裂出血而死亡。此前的研究表明，各种类型的埃勒斯-当洛综合征与血小板功能异常之间存在关联。在这个家族中，EDS-IV以常染色体显性模式遗传。在这个家族中，先证者的血小板功能障碍仅传递给了两个患有EDS-IV的孩子中的一个，这表明这种情况存在一个独立于EDS-IV的遗传因素。
