Document Detail

Hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu syndrome): a view from the 21st century.
MedLine Citation:
PMID:  12566546     Owner:  NLM     Status:  MEDLINE    
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 characteristic mucocutaneous telangiectasia. Arteriovenous malformations commonly occur, and in the pulmonary and cerebral circulations demand knowledge of risks and benefits of asymptomatic screening and treatment. HHT is inherited as an autosomal dominant trait and there is no age cut off when apparently unaffected offspring of an individual with HHT can be told they are unaffected. This review focuses on the evolving evidence base for HHT management, issues regarding pregnancy and prothrombotic treatments, and discusses the molecular and cellular changes that underlie this disease.
M E Begbie; G M F Wallace; C L Shovlin
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Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Postgraduate medical journal     Volume:  79     ISSN:  0032-5473     ISO Abbreviation:  Postgrad Med J     Publication Date:  2003 Jan 
Date Detail:
Created Date:  2003-02-04     Completed Date:  2003-04-17     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  0234135     Medline TA:  Postgrad Med J     Country:  England    
Other Details:
Languages:  eng     Pagination:  18-24     Citation Subset:  IM    
Respiratory Medicine, National Heart and Lung Institute, Imperial College Faculty of Medicine, Hammersmith Hospital, London, UK.
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MeSH Terms
Arteriovenous Malformations / etiology
Epistaxis / etiology
Gastrointestinal Hemorrhage / etiology
Pregnancy Complications, Cardiovascular / therapy
Telangiectasia, Hereditary Hemorrhagic / diagnosis*,  genetics,  therapy

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