A. Bianchi Bonomi Haemophilia and Thrombosis Center, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Università degli Studi di Milano and Luigi Villa Foundation, Milan, Italy.
Haemophilia. 2012 Jul;18 Suppl 4:148-53. doi: 10.1111/j.1365-2516.2012.02841.x.
Rare bleeding disorders (RBDs) include the inherited deficiencies of fibrinogen, factor (F)II, FV, FV+FVIII, FVII, FX, FXI and FXIII. There have been remarkable advances in understanding the molecular profiles that lead to each type of coagulation factor deficiency. However, as a consequence of their rarity, clinical data regarding the characteristics of bleeding symptoms and their management remain limited. The clinical manifestations in different RBDs are heterogeneous, and the residual plasma coagulant factor level does not always predict bleeding tendency. In this review, we describe the general features and recent advances in understanding three such deficiencies: FXI, FVII and fibrinogen deficiencies.
罕见的出血性疾病（RBDs）包括纤维蛋白原、因子（F）II、FV、FV+FVIII、FVII、FX、FXI 和 FXIII 的遗传性缺乏。在了解导致每种凝血因子缺乏的分子谱方面已经取得了显著进展。然而，由于它们的罕见性，关于出血症状的特征及其管理的临床数据仍然有限。不同 RBD 中的临床表现具有异质性，并且残余血浆凝血因子水平并不总是预测出血倾向。在这篇综述中，我们描述了 FXI、FVII 和纤维蛋白原缺乏症这三种缺陷的一般特征和最新进展。
