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PMID: 12566546 Published · ppublish English Journal Article Review

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

Postgraduate medical journal ·Vol. 79 ·No. 927 ·2003-01-00 ·Pages 18-24

Begbie ME, Wallace GM, Shovlin CL

Abstract

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.

MeSH Terms
Arteriovenous Malformations/etiology Epistaxis/etiology Female Gastrointestinal Hemorrhage/etiology Humans Pregnancy Pregnancy Complications, Cardiovascular/therapy Telangiectasia, Hereditary Hemorrhagic/diagnosis,genetics,therapy
Authors & Affiliations
3 authors, click to expand affiliations / ORCID
Begbie M E
Respiratory Medicine, National Heart and Lung Institute, Imperial College Faculty of Medicine, Hammersmith Hospital, London, UK.
Wallace G M F
Shovlin C L
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Article Info
Journal
Postgraduate medical journal
Abbr.
Postgrad Med J
ISSN
0032-5473
DOI
10.1136/pmj.79.927.18
Published
2003-01-00
Pages
18-24
Language
English
Region
England
NLM ID
0234135
PMCID
PMC1742589
Subset
IM
External Links
PubMed source DOI: 10.1136/pmj.79.927.18 PMC Full Text View journal details
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