Division of Blood Disorders, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GA.
The Abigail Wexner Research Institute, Nationwide Children's Hospital, Columbus, OH.
Blood Adv. 2021 Apr 27;5(8):2079-2086. doi: 10.1182/bloodadvances.2020004141.
Data on infants and toddlers (ITs) with von Willebrand disease (VWD) are lacking. We used data collected in the US Hemophilia Treatment Center Network (USHTCN) to describe birth characteristics, bleeding episodes, and complications experienced by 105 patients with VWD who were <2 years of age. In 68% of the patients, the reason for diagnostic testing was a family history of a bleeding disorder. The mean age at diagnosis was 7 months, with little variation by sex. Patients with type 2 VWD were diagnosed earlier than those with types 1 or 3 (P = .04), and those with a family history were diagnosed ∼4 months earlier than those with none (P < .001). Among the patients who experienced a bleeding event (70%), oral mucosa was the most common site of the initial bleeding episode (32%), followed by circumcision-related (12%) and intracranial/extracranial bleeding (10%). Forty-one percent of the initial bleeding events occurred before 6 months of age, and 68% of them occurred before the age of 1 year. Approximately 5% of the cohort experienced an intracranial hemorrhage; however, none was associated with delivery at birth. Bleeding patterns and rates were similar by sex (P = .40) and VWD type (P = .10). Forty-seven percent were treated with plasma-derived von Willebrand factor VIII concentrates. The results of this study indicate that a high percentage of ITs diagnosed with VWD and receiving care within the multidisciplinary structure of the USHTCN have a family history of VWD. In addition, bleeding events such as circumcision-related, oropharyngeal, and intracranial or extracranial episodes are common and are leading indicators for treatment.
关于婴儿和学步儿(ITs)患有血管性血友病(VWD)的数据很少。我们使用在美国血友病治疗中心网络(USHTCN)收集的数据,描述了 105 名年龄<2 岁的 VWD 患者的出生特征、出血发作和并发症。在 68%的患者中,进行诊断性检测的原因是家族出血性疾病史。诊断的平均年龄为 7 个月,性别差异不大。2 型 VWD 患者的诊断时间早于 1 型或 3 型(P =.04),有家族史的患者比无家族史的患者早诊断约 4 个月(P <.001)。在经历出血事件的患者中(70%),口腔黏膜是初始出血发作的最常见部位(32%),其次是与包皮环切术相关的(12%)和颅内/颅外出血(10%)。41%的初始出血事件发生在 6 个月之前,其中 68%发生在 1 岁之前。大约 5%的患者发生颅内出血;然而,没有一例与出生时的分娩有关。性别的出血模式和发生率相似(P =.40),VWD 类型相似(P =.10)。47%的患者接受了血浆源性血管性血友病因子 VIII 浓缩物的治疗。这项研究的结果表明,在美国血友病治疗中心网络的多学科结构内接受治疗的被诊断患有 VWD 的 ITs 中,很大一部分有 VWD 的家族史。此外,常见的出血事件如与包皮环切术相关的、口咽和颅内或颅外发作是常见的,也是治疗的主要指标。