Related Experiment Video
Updated: Aug 29, 2025

A Patient-Derived Xenograft Model for Venous Malformation
Published on: June 15, 2020
Hereditary Hemorrhagic Telangiectasia: Genetics, Pathophysiology, Diagnosis, and Management
Adrian Viteri-Noël1,2, Andrés González-García1,2, José Luis Patier1,2
1Internal Medicine Department, Hospital Universitario Ramón y Cajal, IRYCIS, 28034 Madrid, Spain.
Abstract:
Hereditary hemorrhagic telangiectasia is an inherited disease related to an alteration in angiogenesis, manifesting as cutaneous telangiectasias and epistaxis. As complications, it presents vascular malformations in organs such as the lung, liver, digestive tract, and brain. Currently, diagnosis can be made using the Curaçao criteria or by identifying the affected gene. In recent years, there has been an advance in the understanding of the pathophysiology of the disease, which has allowed the use of new therapeutic strategies to improve the quality of life of patients. This article reviews some of the main and most current evidence on the pathophysiology, clinical manifestations, diagnostic approach, screening for complications, and therapeutic options, both pharmacological and surgical.
Related Concept Videos
Esophageal Varices-II: Clinical Features and Management
In the initial assessment, a thorough review of the patient's medical history is vital to identify risk factors such as liver disease, alcohol...
Esophageal Varices-I: Introduction
Venous Thrombosis IV: Nursing Management
Varicose Veins II: Diagnostic Studies and Interprofessional Care
Varicose Veins I: Introduction
Venous Thrombosis I: Introduction

