M. Fabry - eine seltene Lipidose mit zahlreichen neurologischen Komplikationen

Zusammenfassung

M. Fabry ist eine X-chromosomal vererbte Lipidstoffwechselerkrankung, die durch das Fehlen oder die verminderte Aktivität des α-Galaktosidase-A-Enzyms gekennzeichnet ist. Der mangelnde Katabolismus führt zu einer systemischen Ablagerung von Glykosphyngolipiden und multiplen Organschäden mit tödlichem klinischen Verlauf in der vierten oder fünften Lebensdekade. Es wird der Fall eines männlichen 33-jährigen Patienten mit M. Fabry und die typischen neurologischen Symptome dieser Erkrankung in Form von Schlaganfällen im jungen Erwachsenenalter und qualvolle neuropathische Schmerzen berichtet. Darüber hinaus werden Klinik und Diagnostik dieser höchst seltenen Erkrankung beschrieben. Therapeutisch stellt die seit dem letzten Kalenderjahr mögliche rekombinante Enzymersatztherapie einen entscheidenden und viel versprechenden Wendepunkt in der Behandlung der Fabry-Erkrankung dar.

Abstract

Fabry disease is a X-linked recessively inherited metabolic disorder, resulting in a deficient activity of the lysosomal hydrolase α-galactosidase A leading to systemic deposition of glycosphingolipids and multiple organic lesions with a fatal clinical progress in the fourth or fifth decade. We report about a 33-year old male patient with Fabry's disease and typical neurological complications of cerebrovascular events in adolescense and recurrent excruciating pain episodes involving the extremities. Clinical symptoms and diagnostic procedures of this rare metabolic disease will be described. From a therapeutic point of view, the availability of a new enzyme replacement therapy is an important breakthrough for patients with Fabry disease.

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