罕见出血性疾病和杂合基因型患者的出血症状：来自RBiN研究的数据

IF 5.5 2区医学 Q1 HEMATOLOGY

Journal of Thrombosis and Haemostasis Pub Date : 2025-03-06 DOI:10.1016/j.jtha.2025.02.030

Sterre P E Willems, Marjon H Cnossen, Nick van Es, Paul L den Exter, Ilmar C Kruis, Dominique P M S M Maas, Karina Meijer, Laurens Nieuwenhuizen, Sanna Rijpma, Joline L Saes, Annet Simons, Roger E G Schutgens, Marjan Weiss, Nicole M A Blijlevens, Waander L van Heerde, Saskia E M Schols

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引用次数: 0

摘要

背景：关于具有杂合基因型的罕见出血性疾病（rbd）的数据有限，因为大多数研究集中在双等位基因型和更严重的凝血因子缺乏。越来越多的证据表明，杂合基因型患者会出现临床相关的出血症状。目的：探讨杂合子基因型患者出血症状及术后出血的发生率。患者/方法：荷兰罕见出血性疾病研究（2017-2019）的横断面亚研究包括罕见凝血因子缺乏和纤维蛋白溶解障碍的杂合或双等位基因型患者。临床数据和实验室样本是在一次研究访问中收集的，同时还收集了问卷。结果：共纳入86例杂合子基因型和55例双等位基因型。杂合基因型人群中因子活性水平的中位数接近50%，具有相当大的异质性（范围：11-93%）。75%的杂合基因型患者报告出血严重程度为II级或III级。女性特异性出血是常见的。总共进行了425次手术。杂合子基因型患者接受围手术期治疗的可能性较小，在中高出血风险的手术中，省略围手术期治疗与术后出血有关。杂合子基因型患者的术后出血相当(35%；59/171)和双等位基因型(35%；86/247, p = .926)。结论：在我们的RBD人群中，大多数具有杂合基因型的人表现出自发性出血症状。特别是在中高风险手术中，对杂合子基因型患者采取主动的围手术期止血治疗似乎是有益的。

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Bleeding symptoms in persons with rare bleeding disorders and a heterozygous genotype: data from the Rare Bleeding Disorders in the Netherlands study.

Background: Limited data exist on persons with rare bleeding disorders possessing a heterozygous genotype, as most studies focus on biallelic genotypes and more severe coagulation factor deficiencies. A growing body of evidence suggests that persons with a heterozygous genotype experience clinically relevant bleeding symptoms.

Objectives: This study aimed to explore the incidence of bleeding symptoms and postoperative bleeding in persons with a heterozygous genotype.

Methods: This cross-sectional substudy of the Rare Bleeding Disorders in the Netherlands study (2017-2019) included persons with rare coagulation factor deficiencies and disorders of fibrinolysis with a heterozygous or biallelic genotype. Clinical data and laboratory samples were collected during a single study visit along with questionnaires.

Results: In total, 86 persons with a heterozygous genotype and 55 with a biallelic genotype were included. Median factor activity levels in persons with a heterozygous genotype approached 50% with considerable heterogeneity (range, 11%-93%). In 75%, persons with a heterozygous genotype reported bleeding severity of grade II or III. Female-specific bleeding was common. In total, 425 surgical procedures were performed. Persons with a heterozygous genotype were less likely to receive periprocedural treatment, and omission of periprocedural treatment was associated with postoperative bleeding in procedures with intermediate-high bleeding risk. Postoperative bleeding was comparable for persons with a heterozygous genotype (35%; 59/171) and a biallelic genotype (35%; 86/247; P = .926).

Conclusion: In our population with rare bleeding disorders, the majority of persons possessing a heterozygous genotype exhibited spontaneous bleeding symptoms. Especially in intermediate-high risk procedures, a proactive approach to periprocedural hemostatic treatment in persons with a heterozygous genotype seems beneficial.

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来源期刊

Journal of Thrombosis and Haemostasis 医学-外周血管病

CiteScore

24.30

自引率

3.80%

发文量

321

审稿时长

1 months

期刊介绍： The Journal of Thrombosis and Haemostasis (JTH) serves as the official journal of the International Society on Thrombosis and Haemostasis. It is dedicated to advancing science related to thrombosis, bleeding disorders, and vascular biology through the dissemination and exchange of information and ideas within the global research community. Types of Publications: The journal publishes a variety of content, including: Original research reports State-of-the-art reviews Brief reports Case reports Invited commentaries on publications in the Journal Forum articles Correspondence Announcements Scope of Contributions: Editors invite contributions from both fundamental and clinical domains. These include: Basic manuscripts on blood coagulation and fibrinolysis Studies on proteins and reactions related to thrombosis and haemostasis Research on blood platelets and their interactions with other biological systems, such as the vessel wall, blood cells, and invading organisms Clinical manuscripts covering various topics including venous thrombosis, arterial disease, hemophilia, bleeding disorders, and platelet diseases Clinical manuscripts may encompass etiology, diagnostics, prognosis, prevention, and treatment strategies.