Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark
Department of Otorhinolaryngology HHT-Centre, Odense University Hospital, Odense, Denmark.
J Med Genet. 2023 May;60(5):464-468. doi: 10.1136/jmg-2022-108766. Epub 2022 Aug 29.
Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant condition characterised by recurrent epistaxis, telangiectatic lesions in the skin and mucosal membranes, and arteriovenous malformations (AVMs) in various organs. In 3%-5% of patients, HHT is caused by pathogenic germline variants (PVs) in , and these patients often have additional symptoms of juvenile polyposis syndrome and thoracic aneurysms. The phenotypic spectrum of -associated HHT is less known, including the penetrance and severity of HHT. We aimed to investigate the phenotypic spectrum of HHT manifestations in Danish patients with PVs in and compare the findings with current literature.
The study is a retrospective nationwide study with all known Danish patients with PVs in . In total, 35 patients were included. The patients were identified by collecting data from genetic laboratories, various databases and clinical genetic departments across the country. Clinical information was mainly collected from the Danish HHT-Centre at Odense University Hospital.
Twenty-nine patients with PVs in (83%) were seen at the HHT-Centre. Seventy-six per cent of these fulfilled the Curaçao criteria, 86% experienced recurrent epistaxis and 83% presented with telangiectatic lesions at different anatomical localisations. Almost 60% had AVMs, mainly pulmonary and hepatic, while none was found to have cerebral AVMs. Fifteen per cent had thoracic aortic abnormalities.
We present a nationwide study of one of the largest populations of patients with PVs in that has systematically been examined for HHT manifestations. The patients presented the full spectrum of HHT-related manifestations and the majority fulfilled the Curaçao criteria.
遗传性出血性毛细血管扩张症（HHT）是一种常染色体显性遗传疾病，其特征为反复发作的鼻出血、皮肤和黏膜毛细血管扩张以及各种器官的动静脉畸形（AVM）。在 3%-5%的患者中，HHT 是由 中的致病性种系变异（PVs）引起的，这些患者通常还具有青少年息肉综合征和胸动脉瘤的其他症状。 相关 HHT 的表型谱知之甚少，包括 HHT 的外显率和严重程度。我们旨在研究丹麦 中携带 PVs 的 HHT 患者的表型谱，并将研究结果与现有文献进行比较。
这是一项全国性的回顾性研究，包括丹麦所有已知的 中携带 PVs 的患者。共纳入 35 例患者。通过从全国的遗传实验室、各种数据库和临床遗传科收集数据来识别患者。临床信息主要从奥胡斯大学医院丹麦 HHT 中心收集。
29 例（83%）携带 中 PVs 的患者在 HHT 中心就诊。这些患者中有 76%符合 Curaçao 标准，86%反复发作鼻出血，83%在不同解剖部位出现毛细血管扩张病变。近 60%有 AVM，主要为肺和肝，而无脑 AVM。15%有胸主动脉异常。
我们进行了一项全国性研究，纳入了 中携带 PVs 的患者中最大的人群之一，并对其进行了 HHT 表现的系统检查。这些患者表现出了与 HHT 相关的所有表现谱，大多数患者符合 Curaçao 标准。
