Hereditary haemorrhagic telangiectasia

Abstract

Summary. Hereditary haemorrhagic telangiectasia (also known as Osler-Weber-Rendu syndrome) is a relatively common, under-recognized autosomaldominant disorder that results from multisystem vascular dysplasia. It is characterized by telangiectases and arteriovenous malformations of skin, mucosa and viscera. This article summarizes the clinical manifestations and the management of this disorder and its management. This review underscores an urgent need to conduct prospective multicentre studies to develop evidence-based management guidelines for this disease.

Spectral imaging reveals microvessel physiology and function from anastomoses to thromboses

“…56 A high percentage of HHT patients can develop AVMs in the brain, lungs, liver, and gastrointestinal tract that can potentially rupture with devastating consequences. 57,58 In addition to these visceral AVMs, a majority of HHT patients develop telangiectases in mucocutaneous areas, such as the nasal cavity, that result in spontaneous nose bleeding. 59 To study the development of skin AVMs, we developed a mouse model using the Alk1 gene by intercrossing ROSA26 CreER/+ mice with Alk1-conditional knockout ͑Alk1 2f/− ͒ mice.…”

Novel ACLV1 Mutation Identified in Late Onset Hereditary Hemorrhagic Telangiectasia

“…Rendu first differentiated this disease from hemophilia when he studied a 52-year-old man with a clinical and family history of anemia, recurrent epistaxis, and telangiectasias. Osler and Weber produced more case reports on similar patients later on that made hereditary hemorrhagic telangiectasia well known within the medical community [2]. HHT affects various organs including the nose, skin, lung, brain, and gastrointestinal track.…”

Caso clínico-radiológico

“…En nuestra paciente no existía el antecedente de epistaxis ni telangectasias mucocutáneas, pero si un familiar con antecedente de MAV del SNC 4 . A pesar de no cumplir con los criterios para el diagnóstico de THH, siempre que se presenta una MAV pulmonar debe plantearse la eventual asociación con THH.…”