Impact of Family History of Haemophilia on Diagnosis, Management and Outcomes in Severe Haemophilia.

IF 3 2区医学 Q2 HEMATOLOGY

Haemophilia Pub Date : 2025-05-30 DOI:10.1111/hae.70018

Ana Mendoza, Isabel Rivas, Olga Benítez Hidalgo, Ana Rosa Cid, Martin Olivieri, Susanna Ranta, Veerle Labarque, Nadine G Andersson, Marloes de Kovel, María Teresa Álvarez-Román

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引用次数: 0

Abstract

Introduction: Patients with severe haemophilia A (HA) with no family history of haemophilia will be diagnosed upon their first bleeding event.

Methods: Herein, we studied the effects of lack of family history in HA and the subsequent delay of diagnosis on bleeding pattern and early treatment, as well as on the risk of inhibitor development. For this purpose, data on 1237 severe HA patients with known family history ("positive" or "negative"), born between 2000 and 2022, were collected in 29 participating centres.

Results: At diagnosis, 45.9% (554/1208) of patients had a positive family history of HA and 54.1% (654/1208) had a negative family history. A positive family history significantly shortened the time to diagnosis (8 months) and the treatment initiation (2 months). Prophylaxis was more frequently the first treatment in those with a positive family history compared to the negative family history group (21% vs. 13%). Bleeding was the main reason for first exposure day (ED) in both groups, but less frequently in the family history group than in those without a family history (67% vs. 80%). Positive family history was associated with fewer peak treatments at first five EDs (12% vs. 16%). In non-inhibitor patients, bleeding occurred earlier in those with positive family history (9.2 months vs. 10.6 months). The inhibitor incidence was similar in both groups (33% vs. 30%), and a positive family history was associated with earlier inhibitor development (13 months vs. 15 months).

Conclusion: The majority of patients presented without a family history of HA which led to a delayed diagnosis and treatment initiation.

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血友病家族史对严重血友病诊断、治疗和预后的影响

没有血友病家族史的严重血友病A （HA）患者将在首次出血事件时被诊断出来。方法：本文中，我们研究了HA缺乏家族史和随后的延迟诊断对出血模式和早期治疗的影响，以及对抑制剂发展风险的影响。为此，在29个参与中心收集了2000年至2022年间出生的1237名已知家族史（“阳性”或“阴性”）的严重HA患者的数据。结果：确诊时，45.9%（554/1208）患者HA家族史阳性，54.1%（654/1208）患者HA家族史阴性。阳性家族史显著缩短了诊断时间（8个月）和开始治疗时间（2个月）。与阴性家族史组相比，阳性家族史组更常采用预防性治疗（21%对13%）。出血是两组首次暴露日（ED）的主要原因，但有家族史组的发生率低于无家族史组（67%对80%）。阳性家族史与前5个ed的高峰治疗次数较少相关（12%对16%）。在非抑制剂患者中，有阳性家族史的患者出血时间较早（9.2个月对10.6个月）。两组的抑制剂发病率相似（33%对30%），阳性家族史与早期抑制剂发展相关（13个月对15个月）。结论：大多数患者没有HA家族史，导致诊断和治疗开始延迟。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Haemophilia 医学-血液学

CiteScore

6.50

自引率

28.20%

发文量

226

审稿时长

3-6 weeks

期刊介绍： Haemophilia is an international journal dedicated to the exchange of information regarding the comprehensive care of haemophilia. The Journal contains review articles, original scientific papers and case reports related to haemophilia care, with frequent supplements. Subjects covered include: clotting factor deficiencies, both inherited and acquired: haemophilia A, B, von Willebrand''s disease, deficiencies of factor V, VII, X and XI replacement therapy for clotting factor deficiencies component therapy in the developing world transfusion transmitted disease haemophilia care and paediatrics, orthopaedics, gynaecology and obstetrics nursing laboratory diagnosis carrier detection psycho-social concerns economic issues audit inherited platelet disorders.