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遗传性出血性毛细血管扩张症,复发性鼻出血的一个病因:病例报告

Rendu-Osler disease, a cause of recurrent epistaxis: a case report.

作者信息

Pulpă Raluca Oana, Voiosu Cătălina, Aliuș Ruxandra Oana, Ioniță Irina Gabriela, Rusescu Andreea, Hainăroșie Răzvan, Zainea Viorel

机构信息

ENT Department, Carol Davila University of Medicine and Pharmacy, Bucharest, Romania.

ENT Department, Prof. Dr. D. Hociota Institute of Phonoaudiology and Functional ENT Surgery, Bucharest, Romania.

出版信息

J Med Life. 2025 Apr;18(4):397-401. doi: 10.25122/jml-2025-0070.

Abstract

Rendu-Osler disease is a rare, autosomal dominant vascular malformation disorder with diverse clinical manifestations. It commonly presents with recurrent epistaxis, iron deficiency, and secondary anemia. The condition affects small vessels in the nasal, oral, and gastrointestinal mucosa, the skin of the face, lips, and fingertips, and solid organs. This article discusses general and specific manifestations of the disease, along with its general and particular management. A case presentation is included to demonstrate that treatment must be individualized, taking into account all aspects of the condition, including local and systemic manifestations, comorbidities, and the patient's chronic treatment.

摘要

遗传性出血性毛细血管扩张症是一种罕见的常染色体显性遗传性血管畸形疾病,临床表现多样。其常见症状为反复鼻出血、缺铁及继发性贫血。该病累及鼻腔、口腔和胃肠道黏膜的小血管、面部、嘴唇和指尖皮肤以及实体器官。本文讨论了该疾病的一般和特殊表现,以及其一般和特殊治疗方法。文中还包含一个病例介绍,以表明治疗必须个体化,要考虑到病情的各个方面,包括局部和全身表现、合并症以及患者的长期治疗情况。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/17bc/12094311/5ceeb474c4bd/JMedLife-18-397-g001.jpg

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