Schlammadinger Agota, Boda Zoltán
2nd Department of Medicine, Medical and Health Science Centre, University of Debrecen, Hungary.
Clin Lab. 2002;48(7-8):385-93.
Von Willebrand's disease is caused by the quantitative or qualitative deficiency of von Willebrand factor. It is the most common congenital bleeding disorder affecting 1% of the population. The disease has a deep impact on the quality of life of the patients and in severe cases it may lead to life-threatening bleeding complications or may be fatal. A number of therapeutic options are available nowadays, and by the prophylactic use of these drugs before surgery, delivery etc., severe haemorrhagic complications can be avoided. Therefore it is extremely important to establish the correct diagnosis in time. There is no single diagnostic test due to the high variability of the disease. A number of assays are to be carried out in order to confirm the diagnosis apd identify the subtype of the disease. In this review we describe a simple approach to get to the correct diagnosis of this common bleeding disorder.
血管性血友病是由血管性血友病因子的数量或质量缺陷引起的。它是最常见的先天性出血性疾病,影响着1%的人口。这种疾病对患者的生活质量有深远影响,在严重情况下可能导致危及生命的出血并发症,甚至可能是致命的。如今有多种治疗选择,通过在手术、分娩等之前预防性使用这些药物,可以避免严重的出血并发症。因此,及时做出正确诊断极其重要。由于该疾病具有高度变异性,没有单一的诊断测试。需要进行多项检测以确诊并确定疾病的亚型。在这篇综述中,我们描述了一种简单的方法来正确诊断这种常见的出血性疾病。