Hessels Josefien, Post Marco C, Boerman Sanne, Droege Freya, Dupuis Olivier, Geisthoff Urban W, Haahr Pernille D, Kjeldsen Anette D, Mager Johannes-Jurgen, Dupuis-Girod Sophie, Buscarini Elisabetta
Pulmonology Department, St. Antonius Hospital, Nieuwegein, The Netherlands.
VASCERN HHT European Reference Centre and Department of Cardiology, St. Antonius Hospital, Nieuwegein, The Netherlands.
Orphanet J Rare Dis. 2025 Aug 1;20(1):395. doi: 10.1186/s13023-025-03887-x.
Hereditary hemorrhagic telangiectasia (HHT) can influence the quality of life and social relationships, mostly due to epistaxis, but the topics of family planning, sexual activity and contraception have not been investigated to date. This study aimed to gain more insight: what is the influence of HHT on family planning, sexual activity and contraception?
This multi-language European survey study included a patient's and partners' version of a questionnaire designed specifically for this study. HHT patients were informed about the study through HHT expert centres, social media and websites of patient associations. Data collection took place between March- May 2023.
The survey was completed by 572 patients with a definite HHT diagnosis, based on genetic confirmation or ≥ 3 Curaçao criteria. In most patients, HHT did not affect relationship decisions (n = 353, 62%), decisions concerning pregnancy and children (n = 287, 50%) and sexual activity (n = 315, 57%). However, 28% of HHT patients (n = 157) did experience effect on sexual activity and may benefit from improved epistaxis management and better awareness of their partners.
HHT did not affect family planning decisions and sexual activity in most patients, but approximately a quarter of patients experienced effect on sexual activity caused by epistaxis.
遗传性出血性毛细血管扩张症（HHT）会影响生活质量和社会关系，主要原因是鼻出血，但迄今为止，计划生育、性活动和避孕等话题尚未得到研究。本研究旨在深入了解：HHT对计划生育、性活动和避孕有何影响？
这项多语言的欧洲调查研究包括专门为本研究设计的患者版和伴侣版问卷。通过HHT专家中心、社交媒体和患者协会网站向HHT患者介绍该研究。数据收集于2023年3月至5月进行。
572名经基因确认或符合≥3条库拉索标准确诊为HHT的患者完成了调查。在大多数患者中，HHT并未影响关系决策（n = 353，62%）、怀孕和生育决策（n = 287，50%）以及性活动（n = 315，57%）。然而，28%的HHT患者（n = 157）确实在性活动方面受到影响，可能会从改善鼻出血管理和提高伴侣的认知中受益。
在大多数患者中，HHT并未影响计划生育决策和性活动，但约四分之一的患者因鼻出血在性活动方面受到影响。
