University of Manchester and Manchester Blood Centre, Manchester, UK.
Haemophilia. 2012 Jul;18 Suppl 4:66-72. doi: 10.1111/j.1365-2516.2012.02830.x.
von Willebrand disease (VWD) is the most common inherited bleeding disorder, but variable severity and several classification types mean that diagnosis is often not straightforward. In many countries, the assays are not readily available and/or are not well standardized. The latest methods and the basis of VWD are discussed here, together with information from the international quality assessment programme (IEQAS). Factor XIII deficiency is a rare, but important bleeding disorder, which may be missed or diagnosed late. A discussion and update on this diagnosis is considered in the final section of our review.
血管性血友病(von Willebrand disease,VWD)是最常见的遗传性出血性疾病,但因其严重程度不一且分类多样,故诊断通常并不简单。在许多国家,相关检测并不普及,或尚未标准化。本文将探讨 VWD 的最新检测方法和其原理,同时结合国际质量评估项目(IEQAS)的相关信息。因子 XIII 缺乏症是一种罕见但重要的出血性疾病,其可能被漏诊或误诊。本文最后一部分还将对该疾病的诊断进行讨论和更新。