Hereditary hemorrhagic telangiectasia

AE Guttmacher, DA Marchuk… - New England Journal of …, 1995 - Mass Medical Soc
Identified nearly a century ago, hereditary hemorrhagic telangiectasia, or Rendu–Osler–
Weber syndrome, has long been viewed as a rare condition producing minor discomfort for …

Hereditary haemorrhagic telangiectasia: pathophysiology, diagnosis and treatment

CL Shovlin - Blood reviews, 2010 - Elsevier
Hereditary haemorrhagic telangiectasia, inherited as an autosomal dominant trait, affects
approximately 1 in 5000 people. The abnormal vascular structures in HHT result from …

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 …

A systematic review of the frequency and prognosis of arteriovenous malformations of the brain in adults

R Al-Shahi, C Warlow - Brain, 2001 - academic.oup.com
By systematically reviewing the literature, we have found that there is very little information
about the frequency and clinical course of arteriovenous malformations (AVMs) of the brain …

[HTML][HTML] Hereditary hemorrhagic telangiectasia: an overview of diagnosis, management, and pathogenesis

J McDonald, P Bayrak-Toydemir, RE Pyeritz - Genetics in medicine, 2011 - Elsevier
Abstract Abstract Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome) is
a disorder of development of the vasculature characterized by telangiectases and …

Hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu syndrome): a view from the 21st century

ME Begbie, GMF Wallace… - Postgraduate medical …, 2003 - academic.oup.com
Hereditary haemorrhagic telangiectasia (HHT) affects one in 5− 8000, and no longer can be
viewed as solely causing anaemia (due to nasal and gastrointestinal bleeding) and …

Genotype-phenotype relationship in hereditary haemorrhagic telangiectasia

TGW Letteboer, JJ Mager, RJ Snijder… - Journal of medical …, 2006 - jmg.bmj.com
Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant disorder
characterised by vascular malformations in multiple organ systems, resulting in …

Cerebrovascular manifestations in 321 cases of hereditary hemorrhagic telangiectasia

CO Maher, DG Piepgras, RD Brown Jr, JA Friedman… - Stroke, 2001 - Am Heart Assoc
Background and Purpose—Patients with hereditary hemorrhagic telangiectasia (HHT) are at
risk for developing cerebral vascular malformations and pulmonary arteriovenous fistulae …

Optimal management of hereditary hemorrhagic telangiectasia

N Garg, M Khunger, A Gupta, N Kumar - Journal of Blood Medicine, 2014 - Taylor & Francis
Hereditary hemorrhagic telangiectasia (HHT), also known by the eponym Osler–Weber–
Rendu syndrome, is a group of related disorders inherited in an autosomal dominant fashion …

[HTML][HTML] Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: data from the French-Italian HHT network

G Lesca, C Olivieri, N Burnichon, F Pagella… - Genetics in …, 2007 - nature.com
Purpose: Hereditary hemorrhagic telangiectasia is an autosomal dominant disorder
characterized by arteriovenous malformations (AVM), mostly cutaneous and mucous …