Cerrone Antonio, Buscarini Elisabetta, Berté Roberto, Alicante Saverio, Bertolazzi Stefania, Moreschi Olivia, Griffanti Paola, Manfredi Guido
Gastroenterology Department, HHT European Reference Center, ASST Ospedale Maggiore Crema, Crema, Italy.
Semin Thromb Hemost. 2025 Feb;51(1):91-97. doi: 10.1055/s-0044-1800834. Epub 2024 Dec 18.
Hereditary hemorrhagic telangiectasia (HHT) is an inherited vascular disorder with highly variable penetrance, affecting up to 1 in 5,000 individuals. It is characterized by the presence of abnormal blood vessels that can lead to excessive bleeding-most frequently recurrent nosebleeds (epistaxis), skin and mucosal telangiectasias (small, dilated blood vessels), as well as arteriovenous malformations (AVMs) that can form in various organs, particularly the lungs, liver, and brain. HHT is caused by loss-of-function mutations in the BMP9-10/ENG/ALK1/SMAD4 signaling pathway, an important mediator of vascular quiescence. HHT possesses significant challenges for affected individuals, as the complications can range from mild to life-threatening events, depending on the severity and location of the vascular abnormalities. Despite this bleeding disorder being not uncommon, nowadays no specific treatment is as yet available for HHT and most current therapies include repurposed drugs. The aim of this review was to show therapeutic advances on the basis of recent promising clinical trials for HHT.
遗传性出血性毛细血管扩张症（HHT）是一种具有高度可变外显率的遗传性血管疾病，每5000人中就有1人受其影响。其特征是存在异常血管，可导致出血过多——最常见的是反复鼻出血（鼻衄）、皮肤和黏膜毛细血管扩张（小的扩张血管），以及可在各种器官，特别是肺、肝和脑形成的动静脉畸形（AVM）。HHT是由BMP9 - 10/ENG/ALK1/SMAD4信号通路中的功能丧失突变引起的，该信号通路是血管静止的重要调节因子。HHT给受影响的个体带来了重大挑战，因为并发症的严重程度取决于血管异常的严重程度和位置，范围从轻度到危及生命的事件不等。尽管这种出血性疾病并不罕见，但目前尚无针对HHT的特效治疗方法，当前大多数治疗方法包括重新利用现有药物。这篇综述的目的是基于近期针对HHT的有前景的临床试验展示治疗进展。
