Liver involvement in hereditary hemorrhagic telangiectasia: consensus recommendations

E Buscarini, H Plauchu, G Garcia Tsao… - Liver …, 2006 - Wiley Online Library
Study Purpose: To formulate recommendations about clinical management of liver
involvement in hereditary hemorrhagic telangiectasia (HHT), using a formal consensus …

International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia

ME Faughnan, VA Palda, G Garcia-Tsao… - Journal of medical …, 2011 - jmg.bmj.com
Background HHT is an autosomal dominant disease with an estimated prevalence of at least
1/5000 which can frequently be complicated by the presence of clinically significant …

Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu‐Osler‐Weber syndrome)

CL Shovlin, AE Guttmacher, E Buscarini… - American journal of …, 2000 - Wiley Online Library
Abstract Hereditary Hemorrhagic Telangiectasia (HHT) is easily recognized in individuals
displaying the classical triad of epistaxis, telangiectasia, and a suitable family history, but the …

A framework for applying unfamiliar trial designs in studies of rare diseases

S Gupta, ME Faughnan, GA Tomlinson… - Journal of clinical …, 2011 - Elsevier
Objective Rare diseases may be difficult to study through conventional research methods,
but are amenable to study through certain uncommonly used designs. We sought to explain …

Endoglin-deficient mice, a unique model to study hereditary hemorrhagic telangiectasia

A Bourdeau, ME Faughnan, M Letarte - Trends in cardiovascular medicine, 2000 - Elsevier
Hereditary hemorrhagic telangiectasia (HHT) is a genetic vascular disorder characterized by
dilated vessels and arteriovenous malformations. Phenotypic heterogeneity, such as age of …

Second international guidelines for the diagnosis and management of hereditary hemorrhagic telangiectasia

ME Faughnan, JJ Mager, SW Hetts… - Annals of internal …, 2020 - acpjournals.org
Description: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant
disease with an estimated prevalence of 1 in 5000 that is characterized by the presence of …

Diffuse pulmonary arteriovenous malformations: characteristics and prognosis

ME Faughnan, YW Lui, JA Wirth, RA Pugash… - Chest, 2000 - Elsevier
Objective To study the clinical characteristics andprognosis of patients with diffuse
pulmonary arteriovenousmalformations (AVMs). Design Retrospective chartreview of all …

Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP–HHT syndrome

C Gallione, AS Aylsworth, J Beis, T Berk… - American journal of …, 2010 - Wiley Online Library
Juvenile polyposis (JP) and hereditary hemorrhagic telangiectasia (HHT) are clinically
distinct diseases caused by mutations in SMAD4 and BMPR1A (for JP) and endoglin and …

[HTML][HTML] Improved survival after liver transplantation in patients with hepatopulmonary syndrome

S Gupta, H Castel, RV Rao, M Picard, L Lilly… - American Journal of …, 2010 - Elsevier
Hepatopulmonary syndrome (HPS) is present in 10–32% of chronic liver disease patients,
carries a poor prognosis and is treatable by liver transplantation (LT). Previous reports have …

Effect of topical intranasal therapy on epistaxis frequency in patients with hereditary hemorrhagic telangiectasia: a randomized clinical trial

KJ Whitehead, NB Sautter, JP McWilliams… - Jama, 2016 - jamanetwork.com
Importance Epistaxis is a major factor negatively affecting quality of life in patients with
hereditary hemorrhagic telangiectasia (HHT; also known as Osler-Weber-Rendu disease) …