Rimmer Joanne, Lund Valerie J
Rhinology. 2015 Sep;53(3):195-203. doi: 10.4193/Rhino14.274.
Hereditary haemorrhagic telangiectasia is an autosomal dominant vascular disease characterized by recurrent epistaxis, mucocutaneous telangiectasia and visceral arteriovenous malformations.
The genetic basis and pathophysiology of the disease are discussed. Diagnostic criteria and the clinical course of the condition are considered. The current management options, both medical and surgical, are reviewed.
Hereditary haemorrhagic telangiectasia requires specialist treatment for the problems it causes, and is best managed in specialist centres. Epistaxis is often the major symptom, significantly affecting patients' quality of life. An understanding of the available treatment options is therefore important for the otorhinolaryngologist.
遗传性出血性毛细血管扩张症是一种常染色体显性血管疾病，其特征为反复鼻出血、黏膜皮肤毛细血管扩张和内脏动静脉畸形。
讨论了该疾病的遗传基础和病理生理学。考虑了诊断标准和疾病的临床过程。回顾了当前的医疗和手术管理选择。
遗传性出血性毛细血管扩张症因其引发的问题需要专科治疗，最好在专科中心进行管理。鼻出血通常是主要症状，严重影响患者的生活质量。因此，对于耳鼻喉科医生而言，了解可用的治疗选择很重要。
