Article
International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia.
Journal of medical genetics - 1 Feb 2011
Faughnan M E, Palda V A, Garcia-Tsao G, Geisthoff U W, McDonald J, Proctor D D, Spears J, Brown D H, Buscarini E, Chesnutt M S, Cottin V, Ganguly A, Gossage J R, Guttmacher A E, Hyland R H, Kennedy S J, Korzenik J, Mager J J, Ozanne A P, Piccirillo J F, Picus D, Plauchu H, Porteous M E M, Pyeritz R E, Ross D A, Sabba C, Swanson K, Terry P, Wallace M C, Westermann C J J, White R I, Young L H, Zarrabeitia R
Abstract excerpt
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 arteriovenous malformations in the brain, lung, gastrointestinal tract and liver. HHT is under-diagnosed and families may be unaware of the available screening and treatment, leading to unnecessary stroke and life-threatening hemorrhage in...
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