A. Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Semin Thromb Hemost. 2013 Sep;39(6):579-84. doi: 10.1055/s-0033-1349221. Epub 2013 Jul 25.
Rare bleeding disorders (RBDs) comprise the inherited deficiencies of coagulation factors such as fibrinogen, factor (F)II, FV, FV + FVIII, FVII, FX, FXI, and FXIII, and are usually transmitted as autosomal recessive disorders. RBDs are characterized by a wide variety of symptoms from mild to severe; however, due to their rarity, only little information is available on the adequate management of patients affected with these deficiencies. Moreover, the limitations of laboratory assays and the lack of a definitive consensus concerning their classification have prevented adoption of optimal approaches to their individual management. To overcome these limitations, new strategies are therefore necessary, such as the establishment of global collaborations and networks among treatment centers, as well as increasing support provided by public health organizations.
罕见出血性疾病(RBDs)包括纤维蛋白原、因子(F)II、FV、FV+FVIII、FVII、FX、FXI 和 FXIII 等凝血因子的遗传性缺乏,通常作为常染色体隐性遗传疾病传播。RBDs 的症状多种多样,从轻度到重度不等;然而,由于其罕见性,对于受这些缺乏症影响的患者的适当管理,只有很少的信息可用。此外,实验室检测的局限性以及缺乏关于其分类的明确共识,阻碍了对其个体化管理采用最佳方法。为了克服这些局限性,因此需要采取新的策略,例如在治疗中心之间建立全球合作和网络,以及增加公共卫生组织提供的支持。