Diagnostik und Behandlung der hereditären hämorrhagischen Teleangiektasie

Zusammenfassung

Die hereditäre hämorrhagische Teleangiektasie (HHT; Morbus Osler-Weber-Rendu; Morbus Osler) ist mit einer weltweiten Prävalenz von 1:5000–8000 eine seltene Erkrankung der Kapillaren, bei der sich arteriovenöse Shunts bilden. Vorwiegend finden sich diese in der Nasenschleimhaut, im Magen-Darm-Trakt, in der Lunge, in der Leber und im zentralen Nervensystem. Leitsymptom der Erkrankung ist die Epistaxis. Die Therapie besteht aus einem mehrstufigen Behandlungskonzept, das neben Nasenpflege und der Lasertherapie in örtlicher Betäubung auch medikamentöse Therapien sowie operative Eingriffe in Vollnarkose umfasst. Zusätzlich erfolgt ein Screening zur Erfassung der Beteiligung innerer Organe in enger interdisziplinärer Zusammenarbeit mit den entsprechenden Fachabteilungen. Eine Behandlung der Läsionen im Bereich der (Schleim-) Haut, des Magen-Darm-Trakts und der Leber erfolgt symptomorientiert, wohingegen Gefäßmalformationen der Lunge und des zentralen Nervensystems aufgrund potenzieller und zum Teil bedrohlicher Komplikationen gelegentlich auch ohne subjektive Beschwerden behandlungsbedürftig sind.

Abstract

Hereditary hemorrhagic telangiectasia (HHT; Osler-Weber-Rendu syndrome; Morbus Osler) represents a syndrome affecting capillary vessels, leading to arteriovenous shunting. With an average worldwide prevalence of 1:5.000–8.000 HHT is considered an orphan disease. Arteriovenous shunts involve predominantly the nasal mucosa, the intestine, lung, liver and central nervous system. Epistaxis is the primary and most bothersome complaint of patients with HHT. A multistage therapeutic concept includes nasal ointment, laser therapy under local anesthesia and surgery under general anesthesia, as well as drug therapies. In addition, screening to determine affection of internal organs is carried out. Lesions that require therapy should be treated in an interdisciplinary setting. Treatment of lesions of the skin, oral and gastrointestinal mucosa and liver is carried out in regard to patients’ symptoms, whereas vascular malformations of the lung and brain might need treatment without being symptomatic, due to possible life-threatening complications.

Schlüsselwörter

Hereditäre hämorrhagische Teleangiektasie (HHT) - Morbus Osler-Weber-Rendu - Epistaxis - Therapie - seltene Erkrankung - Organmanifestation

Key words

hereditary hemorrhagic telangiectasia (HHT) - Osler-Weber-Rendu syndrome - epistaxis - therapy - orphan disease - organ manifestation

Publication History

Received: 31 July 2019

Accepted: 15 July 2020

Article published online:
28 September 2020

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