[Screening for systemic manifestations of vascular malformations in patients with hereditary haemorrhagic telangiectasia (Osler disease)].
Hereditary haemorrhagic telangiectasia (Rendu-Osler- Weber syndrome) is a disease characterized by systemic vascular malformations. Typical clinical manifestations are recurrent epistaxis and telangiectases of the skin and the mucous membranes. The syndrome is furthermore characterized by its hereditary aspect. The disease seems to be much more complicated than previously thought, mainly because of the accompanying vascular malformations in vital organs, like the liver, the kidney, the lung, the brain, and the eyes. The diagnosis and treatment of systemic vascular malformations requires interdisciplinary management.
Cerra Pohl
Ana
A
Clínica de Otorrinolaringología, Klinikum der Philipp-Universität Marburg, Marburg, Alemania.
Werner
Jochen Alfred
JA
Folz
Benedikt Josef
BJ
D001921:Brain / Q000098:blood supply; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics; D005123:Eye / Q000098:blood supply; D006801:Humans; D007668:Kidney / Q000098:blood supply; D008099:Liver / Q000098:blood supply; D008168:Lung / Q000098:blood supply; D008403:Mass Screening / Q000379:methods*; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000453:epidemiology* / Q000235:genetics / Q000503:physiopathology*; D054079:Vascular Malformations / Q000453:epidemiology* / Q000235:genetics / Q000503:physiopathology*