Casini Alessandro, von Mackensen Sylvia, Santoro Cristina, Djambas Khayat Claudia, Belhani Meriem, Ross Cecil, Dorgalaleh Akbar, Naz Arshi, Ünal Ekrem, Abdelwahab Magy, Lozeron Elise Dupuis, Trillot Nathalie, Susen Sophie, Peyvandi Flora, de Moerloose Philippe
Division of Angiology and Hemostasis, University Hospitals of Geneva, Geneva, Switzerland.
University of Geneva, Faculty of Medicine, Geneva, Switzerland.
Blood. 2021 Jun 3;137(22):3127-3136. doi: 10.1182/blood.2020009472.
Due to the low prevalence of afibrinogenemia, epidemiologic data on afibrinogenemia are limited, and no data are available on health-related quality of life (HRQoL). We conducted a cross-sectional international study to characterize the clinical features, the fibrinogen supplementation modalities, and their impact on HRQoL in patients with afibrinogenemia. A total of 204 patients (119 adults and 85 children) from 25 countries were included. The bleeding phenotype was severe: 68 (33.3%) patients having at least one bleed per month and 48 (23%) a history of cerebral bleeding. About 35% (n = 72) of patients were treated with fibrinogen concentrates or cryoprecipitates as prophylaxis, 18.1% (n = 37) received ≥1 injection per week, and 16.6% (n = 34) were on home treatment. A thrombotic event was reported in venous and/or arterial territories by 37 (18.1%) patients. Thrombosis occurred even in young patients, and recurrence was frequent (7.4%). The total HRQoL was lower in children than in adults. Discomfort linked to treatment and limitations to sports and leisure were the main concerns. Women and children were particularly affected in family relationships. In multivariate analyses, younger age, residence in Asia or Africa, and a previous thrombotic event were statistically correlated with a worse HRQoL. In summary, our study underlines the severe bleeding and thrombotic phenotype and their impact on HRQoL in afibrinogenemia. The optimal strategy for fibrinogen supplementation needs to be determined. This trial was registered at www.clinicaltrials.gov as #NCT03484065.
由于纤维蛋白原缺乏症的患病率较低，关于纤维蛋白原缺乏症的流行病学数据有限，且尚无有关健康相关生活质量（HRQoL）的数据。我们开展了一项横断面国际研究，以描述纤维蛋白原缺乏症患者的临床特征、纤维蛋白原补充方式及其对HRQoL的影响。共纳入了来自25个国家的204例患者（119例成人和85例儿童）。出血表型严重：68例（33.3%）患者每月至少发生一次出血，48例（23%）有脑出血病史。约35%（n = 72）的患者接受纤维蛋白原浓缩物或冷沉淀治疗作为预防措施，18.1%（n = 37）的患者每周接受≥1次注射，16.6%（n = 34）的患者接受居家治疗。37例（18.1%）患者报告在静脉和/或动脉区域发生了血栓事件。血栓形成甚至发生在年轻患者中，且复发频繁（7.4%）。儿童的总体HRQoL低于成人。与治疗相关的不适以及运动和休闲受限是主要问题。女性和儿童在家庭关系中受到的影响尤为明显。在多变量分析中，年龄较小、居住在亚洲或非洲以及既往有血栓事件与较差的HRQoL在统计学上相关。总之，我们的研究强调了纤维蛋白原缺乏症中严重的出血和血栓表型及其对HRQoL的影响。需要确定纤维蛋白原补充的最佳策略。该试验已在www.clinicaltrials.gov上注册，注册号为#NCT03484065。
