Published: 19 April 2021
Author(s): A. Iriarte, L. Ochoa-Callejero, J. García-Sanmartín, P. Cerdà, P. Garrido, J. Narro-Íñiguez, JM. Mora-Luján, A. Jucglà, MA Sánchez-Corral, F. Cruellas, E. Gamundi, J. Ribas, J. Castellote, F. Viñals, A. Martínez, A. Riera-Mestre
Issue: May 2021
Section: Original article

Hereditary hemorrhagic telangiectasia (HHT) or Rendu–Osler–Weber syndrome (ORPHA774) is a rare autosomal dominant vascular disease characterized by telangiectases and larger vascular malformations (VMs) of the pulmonary, cerebral, or hepatic vasculature [1]. The hallmark of HHT is telangiectasis, which is an abnormal communication between an arteriole and a dilated and tortuous venule in the capillary bed. HHT can be diagnosed either through molecular genetic test or using the Curaçao clinical criteria (recurrent epistaxis, cutaneous/mucosal telangiectasia, visceral VMs, and a first-degree family member with HHT) [2,3].

Newsletters

Stay informed on our latest news!