Frigerio Cecilia, Aebischer Nicole, Baud David, Bonafe Luisa, Fellmanne Florence, Ikonomidis Christos, Mazzolai Lucia, Michel Patrik, Nichita Cristina, Qanadli Salah Dine, Lazor Romain
Rev Med Suisse. 2016 May 4;12(517):896-901.
Hereditary hemorrhagic telangiectasia (HHT), or Osler- Weber-Rendu syndrome, is a rare genetic disorder with autosomal dominant inheritance, characterized by recurrent epistaxis, mucocutaneous telangiectasia and visceral arteriovenous malformations (AVMs), which may lead to severe complications. The diagnosis of HHT is often delayed due to the rarity of the disease, and the variety of clinical manifestations. The management of HHT includes systematic screening for visceral AVMs at regular intervals, preventive interventions to reduce the risk of complications, and symptomatic measures. A multidisciplinary standardized program in specialised centers may improve the management of patients with HHT.
遗传性出血性毛细血管扩张症(HHT),又称奥斯勒-韦伯-伦杜综合征,是一种罕见的常染色体显性遗传疾病,其特征为反复鼻出血、黏膜皮肤毛细血管扩张以及内脏动静脉畸形(AVM),这些可能导致严重并发症。由于该疾病罕见且临床表现多样,HHT的诊断常常延迟。HHT的管理包括定期对内脏AVM进行系统筛查、采取预防性干预措施以降低并发症风险以及对症治疗措施。在专业中心开展多学科标准化项目可能会改善HHT患者的管理。