Published: 16 September 2021
Author(s): A. Riera-Mestre, P. Cerdà, A. Iriarte, M. Graupera, F. Viñals
Issue: January 2022
Section: Review Article

Hereditary hemorrhagic telangiectasia (HHT) or Rendu–Osler–Weber syndrome (ORPHA:774) is a rare autosomal dominant vascular disease characterized by systemic telangiectases and larger vascular malformations (VMs) [1]. The hallmark of HHT is telangiectasis, which are dilated postcapillary venules directly connected with dilated arterioles losing the capillary bed [2]. HHT can be diagnosed either using the Curaçao clinical criteria (recurrent epistaxis, cutaneous/mucosal telangiectasia, visceral VMs, and a first-degree family member with HHT) or through molecular genetic test [2,3].


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