Bleeding and Clotting Disorders Institute, Peoria, Illinois.
Center for Inherited Blood Disorders, Orange, California.
Haemophilia. 2019 Jul;25(4):558-566. doi: 10.1111/hae.13800. Epub 2019 Jun 10.
It has long been hypothesized that bleeding symptoms in people with hypermobility occur as a result of abnormalities in the collagen of the vessel wall or the connective tissues. The bleeding symptoms, particularly in the skin, have been attributed to the fragility of skin and blood vessels caused by "defective collagen wickerwork" of the reticular layer of the skin. Collagen, which forms the framework of vessel walls, is altered in many patients with Ehlers-Danlos syndrome (EDS) leading to weakening of the vessel wall or the supporting tissues. Another important function of subendothelial collagen is its interaction with platelets and von Willebrand factor, which results in the propagation of a platelet plug. Thus, abnormalities in subendothelial collagen may alter its interaction with platelets and VWF. More recently, hypermobile-EDS (hEDS) has been associated with mast cell disorders, a condition independently associated with bleeding symptoms. It has also been observed that patients with mild bleeding disorders have a more severe bleeding phenotype when they have co-existing joint hypermobility.
人们长期以来一直假设，患有高机动性的人出现出血症状是由于血管壁或结缔组织中的胶原异常所致。出血症状，特别是皮肤出血，归因于皮肤和血管的脆弱性，这是由皮肤网状层的“缺陷胶原编织物”引起的。在许多患有埃勒斯-当洛斯综合征（EDS）的患者中，形成血管壁框架的胶原发生改变，导致血管壁或支持组织变弱。内皮下胶原的另一个重要功能是其与血小板和血管性血友病因子的相互作用，这导致血小板栓的传播。因此，内皮下胶原的异常可能改变其与血小板和 VWF 的相互作用。最近，高活动性 EDS（hEDS）与肥大细胞疾病有关，肥大细胞疾病是一种独立于出血症状的疾病。人们还观察到，当患有轻度出血性疾病的患者同时存在关节过度活动时，他们的出血表型更为严重。
