[Hereditary haemorrhagic telangeiectasia].

Q4 Medicine

Ugeskrift for laeger Pub Date : 2025-06-02 DOI:10.61409/V11240781

Kumanan Rune Nanthan, Pernille Mathiesen Tørring, Jens Kjeldsen, Anette Dam Fialla, Bibi Lange, Troels Halfeld Nielsen, Mikkel Seremet Kofoed, Pernille Darre Haahr, Gitte Maria Jørgensen, Anette Drøhse Kjeldsen

引用次数: 0

Abstract

Hereditary haemorrhagic telangeiectasia (HHT) is an autosomal dominant hereditary disease, which affects 15.6/100,000 people in Denmark. In this review, we summarize the current Danish practice on screening, diagnosis, treatment and outpatient control of HHT patients, put an emphasis on the importance of proper screening and treatment of HHT-associated anaemia, and address the latest addition of biological treatment and advances in genetic sequencing to be utilized in HHT.

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[遗传性出血性毛细血管扩张]。

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病，在丹麦有15.6/10万人患病。在这篇综述中，我们总结了目前丹麦在HHT患者的筛查、诊断、治疗和门诊控制方面的实践，强调了正确筛查和治疗HHT相关贫血的重要性，并介绍了HHT生物治疗的最新增加和基因测序的进展。

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

Ugeskrift for laeger Medicine-Medicine (all)

CiteScore

0.20

自引率

0.00%

发文量

345

期刊介绍： The Ulster Medical Journal is an international general medical journal with contributions on all areas of medical and surgical specialties relevant to a general medical readership. It retains a focus on material relevant to the health of the Northern Ireland population. The Honorary Editor would welcome offers of papers for publication. Prospective authors are invited to read the notice to contributors.