Published: 11 December 2024
Author(s): Bernat Villanueva, Miguel Ángel Sánchez-Corral, Esther Alba, Queralt Ordi, Yolanda Ruiz, Raquel Torres-Iglesias, Alejandro Portillo, Adriana Iriarte, Cristina Monforte, Enric Gamundí, Xavier Pintó, Jesús Ribas, Antoni Riera-Mestre
Section: Original Article

Hereditary hemorrhagic telangiectasia (HHT) is a vascular genetic rare disease (ORPHA: 774) characterized by systemic telangiectases and larger vascular malformations [1]. HHT can be diagnosed using either the Curaçao criteria or through molecular genetic testing. Curaçao criteria include: (i) recurrent epistaxis, (ii) mucocutaneous telangiectasia, (iii) visceral vascular malformations, and (iv), a first-degree family member with HHT [2]. The most common identifiable pathogenic variants associated with HHT are located in endoglin (ENG) or activin A receptor type II-like 1 (ACVRL1) genes and define HHT type 1 and type 2, respectively [2–5].

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