title: [Osler's disease].
abstract: Osler's disease, also known as hereditary hemorrhagic telangiectasia (HHT) and Osler-Weber-Rendu syndrome, is an autosomal dominant disorder leading to abnormal blood vessel formation in the skin, mucous membranes and often in organs, such as the lungs, liver and brain (arteriovenous malformations AVM). Various types are known. Patients may present with epistaxis. Teleangiectasia can be identified by visual inspection during physical examination of the skin or oral cavity or by endoscopy. Diagnosis is made after clinical examination and genetic testing based on the Curacao criteria. Modern imaging modalities, such as computed tomography (CT) or magnetic resonance imaging (MRI) have become more important as they can depict the AVMs. Pulmonary AVMs can be depicted in CT imaging even without the use of a contrast agent while other locations including the central nervous system (CNS) usually require administration of contrast agents. Knowledge of possible clinical manifestations in various organs, possible complications and typical radiological presentation is mandatory to enable adequate therapy of these patients. Interventional procedures are becoming increasingly more important in the treatment of HHT patients.
authors.affiliation: Institut für Radiologie, Kantonsspital Baden AG, 5404, Baden, Schweiz, FrankJohannes.Ahlhelm@ksb.ch.
authors.forename: F
authors.initials: F
authors.lastname: Ahlhelm
authors.forename: J
authors.initials: J
authors.lastname: Lieb
authors.forename: G
authors.initials: G
authors.lastname: Schneider
authors.forename: U
authors.initials: U
authors.lastname: Müller
authors.forename: S
authors.initials: S
authors.lastname: Ulmer
mesh_terms: D020022:Genetic Predisposition to Disease / Q000235:genetics; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods*; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000175:diagnosis* / Q000235:genetics*; D014057:Tomography, X-Ray Computed / Q000379:methods*