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Morbus Osler

Osler’s disease

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Zusammenfassung

Der Mobus Osler (Synonyme: hereditäre hämorrhagische Teleangiektasie [HHT], Morbus Rendu-Osler-Weber) ist eine Multisystemerkrankung und gehört zur Gruppe der vaskulären hämorrhagischen Erkrankungen. Bei der autosomal dominanten Erkrankung, die zu den häufigsten Phakomatosen zählt, kann je nach Gendefekt zwischen verschiedenen Formen, die zu einer Störung der Blutgefäßbildung führen, unterschieden werden. Neben der genetischen Diagnostik und der klinischen Untersuchung sind bildgebende Verfahren entscheidend für die Diagnose. Klinisch stehen die Epistaxis, mukokutane Teleangiektasien und viszerale arteriovenöse Malformationen (AVM) v. a. in Lunge, Leber und Hirn sowie die Folgen dieser Gefäßpathologien wie z. B. intrakranielle Abszesse und Hirninfarkte im Vordergrund. Sie können mit der modernen Bildgebung magnetresonanz- und computertomographisch nachgewiesen werden. Pulmonale AVM können häufig computertomographisch auch ohne Kontrastmittelgabe diagnostiziert werden, wohingegen die anderen viszeralen Manifestationen einschließlich einer etwaigen zentralnervösen Beteiligung in der Regel eine Kontrastmittelgabe in der MRT oder CT erforderlich machen. Kenntnisse über die mögliche Organmanifestation, resultierende Komplikationen und die typischen radiologischen Befunde sind entscheidend für die adäquate Behandlung der betroffenen Patienten. Die interventionelle Radiologie/Neuroradiologie spielt auch zunehmend eine wichtige Rolle bei der Behandlung von HHT-Patienten.

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.

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Einhaltung ethischer Richtlinien

Interessenkonflikt. F. Ahlhelm, J. Lieb, G. Schneider, U. Müller, S. Ulmer geben an, dass kein Interessenkonflikt besteht. Dieser Beitrag beinhaltet keine Studien an Menschen oder Tieren.

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Authors and Affiliations

  1. Institut für Radiologie, Kantonsspital Baden AG, 5404, Baden, Schweiz

    F. Ahlhelm & U. Müller

  2. Klinik für Radiologie und Nuklearmedizin, Universitätsspital Basel, Basel, Schweiz

    J. Lieb

  3. Klinik für Diagnostische und Interventionelle Radiologie, Universitätskliniken des Saarlandes, Homburg/Saar, Deutschland

    G. Schneider

  4. Medizinisch-Radiologisches Institut, Zürich, Schweiz

    S. Ulmer

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  1. F. Ahlhelm
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  2. J. Lieb
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  3. G. Schneider
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  4. U. Müller
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  5. S. Ulmer
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Correspondence to F. Ahlhelm.

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Ahlhelm, F., Lieb, J., Schneider, G. et al. Morbus Osler. Radiologe 53, 1084–1090 (2013). https://doi.org/10.1007/s00117-013-2552-z

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  • DOI: https://doi.org/10.1007/s00117-013-2552-z

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