Die Hereditäre Hämorrhagische Teleangiektasie (Morbus Osler-Rendu-Weber) und ihre Manifestation an der Leber

Zusammenfassung

Der M. Osler (Hereditäre Hämorrhagische Teleangiektasie, HHT) ist eine autosomal-dominant vererbte Erkrankung, die mit vielgestaltigen Gefäßfehlbildungen einhergeht. Die genetische Ursache dieser Erkrankung liegt in unterschiedlichen Defekten von Bindungsproteinen (Endoglin, Activin Receptor-like Kinase 1), die Anteile des Rezeptors für Transforming Growth Factor β darstellen. Von den Gefäßfehlbildungen können auch der Gastrointestinaltrakt und insbesondere die Leber betroffen sein. Der Genlokus für die hepatische Manifestation des M. Osler ist bisher nicht bekannt.

Die Gefäßmalformationen führen zu verschiedenen Shuntformen im Bereich der Leber und können im Erwachsenenalter zu unterschiedlichen Komplikationen wie Herzinsuffizienz, Pfortaderhochdruck und hepatischer Enzephalopathie führen. Als Screeningverfahren zur Frage einer Leberbeteiligung bei Patienten mit M. Osler ist die Farb-Doppler-Sonographie Methode der Wahl. In seltenen Fällen sind die o. g. Komplikationen der Leberbeteiligung konservativ nicht befriedigend zu behandeln. Für diese Patienten stehen interventionelle (Embolisation) und operative (Ligatur der Art. hepatica, Lebertransplantation) Therapieverfahren zur Verfügung. Da der Stellenwert der einzelnen Therapieverfahren nicht festgelegt ist, sollten diese Patienten an einem Zentrum vorgestellt werden, welches alle Therapieverfahren anbieten kann.

Hepatic involvement in hereditary hemorrhagic telangiectasia

M. Osler (Hereditary Hemorrhagic Telangiectasia, HHT) is an autosomal dominant inherited disease, with various vascular malformations. The genetic cause of this disease lies in different defects of transmembrane proteins (endoglin, activin receptor like-kinase 1) that can be defined as components of the receptor complex for transforming growth factor β (TGF β).

Vascular malformations include the gastrointestinal tract and especially the liver. The location of mutations encoding hepatic involvement of M. Osler still remains unknown.

These vascular malformations may lead to different shunts in the liver and can result to different complications like cardiac-insufficiency, portal hypertension and hepatic encephalopathy in adulthood.

Color Doppler sonography is the method of choice for screening patients with M. Osler - suspected of having hepatic involvement.

As in rare events conservative treatment of complications of hepatic involvement fail, embolization of the hepatic artery as minimal invasive therapy, surgical ligation of the A. hepatica and liver transplantation are possible treatment options. As there are only limited experiences with these therapeutic procedures patients with liver involvement should be treated at a center, where all therapy options are available.

Schlüsselwörter

M. Osler - Hereditäre hämorrhagische Teleangiektasie - Leber - Embolisation - Sonographie

Key words

M. Osler - Hereditary Hemorrhagic Telangiectasia - Liver - Embolization - Sonography

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