Study Objective

To examine the clinical characteristics and prevalence of congenital bleeding disorders (CBDs), with emphasis on congenital factor VII (FVII) deficiency and other rare bleeding disorders, in adolescent and young adult females referred to a hemophilia treatment center (HTC) for evaluation and management of heavy menstrual bleeding (HMB) and iron deficiency anemia (IDA)

Design

In this single-center retrospective study, we reviewed the clinical characteristics and prevalence of CBDs in postmenarchal females, younger than 22 years of age, referred to an HTC from 2015 to 2021 for evaluation of HMB with or without IDA.

Results

One hundred females, with a mean age of 15 years (range 9-20 years), met initial study criteria, and 95 were included in the final analysis. Forty-five (47%) females were ultimately diagnosed with a CBD. The most prevalent diagnoses were FVII deficiency and type 1 von Willebrand disease (VWD) (42.3%, n = 19 each). Forty-two percent of patients with FVII deficiency had a low-for-age FVII activity level, 21.1% were only positive for the FVII R353Q variant associated with borderline FVII levels, whereas 36.8% had both a low-for-age FVII activity level and a positive R353Q variant. Eighty percent of patients with a CBD were found to have relatives with abnormal bleeding symptoms.

Conclusion

Congenital FVII deficiency is prevalent among female adolescents experiencing HMB with or without IDA. In addition to VWD, evaluation for this specific factor deficiency should be considered as part of the initial CBD workup. Presence of abnormal bleeding history in the family could also help to predict presence of a CBD.

中文翻译：

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患有严重月经出血和缺铁性贫血的青春期女性先天性因子 VII (FVII) 缺乏症的患病率很高

学习目标

在转诊至血友病治疗中心 (HTC) 进行评估和管理的青少年和年轻成年女性中，检查先天性出血性疾病 (CBD) 的临床特征和患病率，重点是先天性因子 VII (FVII) 缺乏症和其他罕见出血性疾病严重月经出血 (HMB) 和缺铁性贫血 (IDA)

设计

在这项单中心回顾性研究中，我们回顾了 22 岁以下月经后女性的临床特征和 CBD 患病率，这些女性在 2015 年至 2021 年期间被转诊到 HTC 以评估伴有或不伴有 IDA 的 HMB。

结果

100 名平均年龄为 15 岁（范围 9-20 岁）的女性符合初始研究标准，其中 95 名女性被纳入最终分析。四十五名 (47%) 女性最终被诊断出患有 CBD。最普遍的诊断是 FVII 缺乏症和 1 型血管性血友病 (VWD)（42.3%，每种n  = 19）。42% 的 FVII 缺乏症患者的 FVII 活性水平低于年龄，21.1% 的 FVII R353Q 变异仅与临界 FVII 水平相关，而 36.8% 的 FVII 活性水平低于年龄和正 R353Q 变体。发现 80% 的 CBD 患者的亲属有异常出血症状。

结论

先天性 FVII 缺陷在伴有或不伴有 IDA 的 HMB 女性青少年中普遍存在。除了 VWD 之外，对于这种特定因素缺陷的评估应被视为初始 CBD 检查的一部分。家族中是否存在异常出血史也有助于预测 CBD 的存在。