Servizio di Malattie Emorragiche e Trombotiche, Area di Ematologia.
Dipartimento Scienze della Salute della Donna, del Bambino e di Sanità Pubblica, UOC Pediatria, Fondazione Policlinico Universitario "A. Gemelli", IRCCS.
Blood Coagul Fibrinolysis. 2020 Sep;31(6):397-401. doi: 10.1097/MBC.0000000000000908.
: Hemophilia A is an X-linked bleeding disorder caused by a deficiency of factor VIII. Depending on the factor VIII activity in patient's plasma, we can have three different forms of hemophilia A: mild (5-40 IU/dl), moderate (1-5 IU/dl) and severe (<1 IU/dl). The most common symptoms include recurrent bleeding episodes of soft tissues and joints. The treatment is based on the prophylactic use of clotting factor concentrates to prevent bleeding episodes. We describe three cases of patients with initially diagnosis of hemophilia A that show different clinical severity, undergoing prophylactic therapies with low benefit. In these patients, the dosage of von Willebrand antigen revealed either low level or absence of this factor, which in one case was caused by the occurrence of a type III form of von Willebrand disease.
血友病 A 是一种 X 连锁出血性疾病,由因子 VIII 缺乏引起。根据患者血浆中因子 VIII 的活性,我们可以有三种不同形式的血友病 A:轻度(5-40IU/dl)、中度(1-5IU/dl)和重度(<1IU/dl)。最常见的症状包括软组织和关节的反复出血发作。治疗基于预防性使用凝血因子浓缩物来预防出血发作。我们描述了三个最初诊断为血友病 A 的患者的病例,这些患者的临床表现严重程度不同,接受低效益的预防性治疗。在这些患者中,von Willebrand 抗原的剂量要么水平较低,要么缺乏该因子,其中一例是由 von Willebrand 病的 III 型引起的。