Understanding hereditary hemorrhagic telangiectasia: From genetic anomalies to systemic manifestations, quality of life, and epistaxis management —Exploring the otolaryngologist's integral role
Hereditary hemorrhagic telangiectasia (HHT), also known as Osler –Rendu–Weber syndrome, is a rare autosomal dominant disorder characterized by vascular malformations. This comprehensive review aimed to provide an overview and summarize various aspects of HHT, including the genetic abnormalities, complications associated with visceral arteriovenous malformatio ns (AVMs), prognosis of HHT, quality of life (QOL), and treatment of epistaxis. In addition, this review highlights the challenges in diagnosing HHT and emphasizes the critical role of otolaryngologists in the early detection of HHT.
Source: Auris, Nasus, Larynx - Category: ENT & OMF Authors: Masaki Hayama, Yohei Maeda, Sho Obata, Takeshi Tsuda, Kazuya Takeda, Takeo Nishida, Hidenori Inohara Source Type: research