Neurologisches Management von Patienten mit Morbus Fabry

Zusammenfassung

Morbus Fabry ist eine X-chromosomal vererbte lysosomale Speichererkrankung, bei der es durch einen Defekt im GLA-Gen zu einer verminderten Aktivität des Enzyms α-Galaktosidase A kommt. Es resultiert ein verminderter Abbau von Glykosphingolipiden, die in den Lysosomen verschiedener Gewebe akkumulieren und somit zu einer Erkrankung multipler Organsysteme führen. Neben der kardialen und renalen Manifestation sind v. a. die neurologischen Komplikationen des Morbus Fabry für die reduzierte Lebenserwartung und die verminderte Lebensqualität verantwortlich. Ischämische Schlaganfälle, eine zerebrale Mikroangiopathie und neuropathische Beschwerden in Form von paroxysmalen Brennschmerzen sind zudem oft die häufigsten und frühesten Symptome, weshalb dem Neurologen sowohl bei der Diagnosestellung als auch beim klinischen Management behandelter Fabry-Patienten eine entscheidende Rolle zukommt. Trotz der mittlerweile etablierten Enzymersatztherapie ist eine symptomatische Therapie und regelmäßige Kontrolle der neurologischen Manifestationen notwendig und für die Lebensqualität der Patienten essenziell. Deshalb sind regelmäßige fachneurologische Untersuchungen innerhalb eines interdisziplinären Therapiekonzepts des Morbus Fabry von großer Bedeutung. Dieser Beitrag gibt einen Überblick über die symptomatischen Behandlungsstrategien und das sinnvolle klinische Management von Fabry-Patienten auf neurologischem Fachgebiet.

Abstract

Fabry disease (FD) is an X-linked lysosomal storage disorder characterised by deficient activity of the enzyme alpha-galactosidase A, resulting in an accumulation of glycosphingolipids in the lysosomes of various tissues, which leads to an involvement of multiple organ systems. The life span in Fabry patients is shortened and quality of life is significantly decreased, mainly due to heart failure, renal dysfunction and the neurological symptoms. Premature strokes, cerebral white matter lesions, and neuropathic symptoms – typically experienced as episodes of severe burning pain – are very common and early symptoms of the disease. Therefore, neurologists play a decisive role in clinical diagnostics and monitoring of Fabry patients. Although an enzyme replacement therapy is available since 2001, adjuvant symptomatic treatment and regular monitoring of neurological manifestations are still required and remain crucial factors for an improvement of patients quality of life. Thus, the neurological management of Fabry patients is one of the mainstays of the interdisciplinary care and management efforts. Here we provide an overview of the neurological aspects of clinical management and adjuvant treatment strategies in patients with Fabry disease.

Schlüsselwörter

Morbus Fabry - lysosomale Speichererkrankungen - klinisches Management

Keywords

Fabry disease - lysosomal storage diseases - clinical management

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