Acharya S S, Coughlin A, Dimichele D M
Division of Hematology-Oncology, Department of Pediatrics, Weill Medical College of Cornell University, New York, NY 10021, USA.
J Thromb Haemost. 2004 Feb;2(2):248-56. doi: 10.1111/j.1538-7836.2003.t01-1-00553.x.
A North American registry for rare bleeding disorders [factor (F)II, factor (F)VII, factor (F)X, factor (F)V, factor (F)XIII, fibrinogen deficiencies and dysfibrinogenemias] was established to gather information about disease prevalence, genotyping frequency, diagnostic events, clinical manifestations, treatment and prophylaxis strategies, as well as disease- and treatment-related complications. Questionnaires were sent to 225 hemophilia treatment centers in the USA and Canada. Among 26% of responding centers, 294 individuals [4.4% of the registered children (200/4583) and 2.4% of adults (94/3809)] were diagnosed with one or more of the rare bleeding disorders (RBDs) included in this survey. The ethnic distribution for each disorder paralleled that of the general US population with the exception of the disproportionately large number of Latinos with FII deficiency. Only 5.4% of affected individuals were genotyped. An abnormal preoperative bleeding screen most often led to diagnosis. The most common coagulopathy was FVII deficiency; however, 40% of homozygous patients were asymptomatic. FX and FXIII deficiencies caused the most severe bleeding manifestations. Among all RBDs, the most common sites of bleeding were skin and mucus membranes. Multiple products were used to treat hemorrhage; however, half of the bleeding episodes required no therapy. The majority of patients suffered no long-term complications from hemorrhage. Treatment-related complications included viral seroconversion, anemia, allergic reactions and venous access device-related events. This registry provides the most comprehensive information to date about North American individuals with RBDs and could serve as an important resource for both basic scientist and clinician.
建立了一个北美罕见出血性疾病（凝血因子II、凝血因子VII、凝血因子X、凝血因子V、凝血因子XIII、纤维蛋白原缺乏症和异常纤维蛋白原血症）登记处，以收集有关疾病患病率、基因分型频率、诊断事件、临床表现、治疗和预防策略以及疾病和治疗相关并发症的信息。向美国和加拿大的225个血友病治疗中心发送了调查问卷。在26%的回复中心中，有294人[占登记儿童的4.4%（200/4583）和成人的2.4%（94/3809）]被诊断患有一种或多种本次调查所涵盖的罕见出血性疾病（RBD）。除了患有凝血因子II缺乏症的拉丁裔人数不成比例地多之外，每种疾病的种族分布与美国总体人群的分布相似。只有5.4%的受影响个体进行了基因分型。术前异常的出血筛查最常导致诊断。最常见的凝血病是凝血因子VII缺乏症；然而，40%的纯合子患者无症状。凝血因子X和凝血因子XIII缺乏症导致最严重的出血表现。在所有RBD中，最常见的出血部位是皮肤和黏膜。使用了多种产品来治疗出血；然而，一半的出血事件无需治疗。大多数患者没有因出血而出现长期并发症。与治疗相关的并发症包括病毒血清转化、贫血、过敏反应和静脉通路装置相关事件。该登记处提供了迄今为止关于北美RBD患者最全面的信息，可为基础科学家和临床医生提供重要资源。
