Hereditary haemorrhagic telangiectasia.
Hereditary haemorrhagic telangiectasia (also known as Osler-Weber-Rendu syndrome) is a relatively common, under-recognized autosomal-dominant disorder that results from multisystem vascular dysplasia. It is characterized by telangiectases and arteriovenous malformations of skin, mucosa and viscera. This article summarizes the clinical manifestations and the management of this disorder and its management. This review underscores an urgent need to conduct prospective multicentre studies to develop evidence-based management guidelines for this disease.
Sharathkumar
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Indiana Hemophilia and Thrombosis Center, Indianapolis, Indiana 46260, USA.
Shapiro
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D000328:Adult; D000368:Aged; D002648:Child; D003937:Diagnosis, Differential; D004621:Embolization, Therapeutic; D004844:Epistaxis / Q000209:etiology / Q000628:therapy; D005260:Female; D005820:Genetic Testing; D006470:Hemorrhage / Q000209:etiology* / Q000628:therapy; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009061:Mouth Mucosa; D009154:Mutation; D009297:Nasal Mucosa; D010641:Phenotype; D011247:Pregnancy; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000150:complications* / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D013684:Telangiectasis / Q000473:pathology*; D014057:Tomography, X-Ray Computed