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Morbus Fabry

Diagnostik und Therapie

Fabry disease

Diagnosis and treatment

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Zusammenfassung

Der M. Fabry ist eine X-chromosomal vererbte lysosomale Speicherkrankheit mit Mangel des Enzyms α-Galaktosidase A und Ablagerung des Glykosphingolipids Globotriaosylceramid-3 (Gb-3) in den Lysosomen. Die Multisystemerkrankung betrifft in schwerer Ausprägung in erster Linie Männer; Genträgerinnen können aber ebenfalls betroffen sein. Lebenslimitierend sind der kardiale, renale und zerebrale Befall – letzterer bedingt durch Schlaganfälle im jüngeren Lebensalter. Das periphere Nervensystem ist im Sinne einer Small-fiber-Neuropathie betroffen, was sich in charakteristischen, meist hitzeinduzierten akralen Schmerzen äußert. Diese Schmerzen sind ein Erstsymptom, das häufig verkannt und unzureichend behandelt wird. Als Behandlungsoption steht eine Enzymersatztherapie zur Verfügung. Die Therapie Fabry-assoziierter Schmerzen erfolgt nach den Prinzipien der Behandlung neuropathischer Schmerzen, jedoch mit einigen Besonderheiten, die im vorliegenden Beitrag erläutert werden sollen.

Abstract

Fabry disease is an X-linked hereditary lysosomal storage disorder with deficiency of the enzyme α-galactosidase A and lysosomal deposits of the glycosphingolipid globotriaosylceramid-3 (Gb-3). Males are predominantly affected by this multisystem disorder; however, females may develop any grade of disease severity. Cardiac, renal, and cerebral involvement may be life limiting—the latter due to stroke in young age. The peripheral nervous system is affected in terms of small fiber neuropathy with characteristic heat-induced acral pain. Pain is the most frequent first symptom of Fabry disease, but is often misjudged and undertreated. Enzyme replacement therapy is available as a treatment option. Fabry-associated pain is treated following the principles of analgesic treatment in neuropathic pain conditions, but some special features need to be considered and will be discussed.

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Interessenkonflikt

Die korrespondierende Autorin weist für sich und ihre Koautorin auf folgende Beziehungen hin: Die Autorinnen haben Vortragshonorare und Forschungsmittel der Firma Genzyme erhalten. Sie erklären, dass der Text unabhängig und ausschließlich dem aktuellen Stand der Wissenschaft entsprechend verfasst wurde. Die Autorinnen weisen auf folgende Beziehungen hin: N. Üçeyler: Reisekostenerstattungen durch die Firmen Pfizer und Astellas; Beraterhonorar von der Firma Grünenthal. C. Sommer: Vortragshonorare von den Firmen Allergan, Astellas, Baxter, Biogen, CSL Behring, Eli Lilly, Genzyme, Grünenthal, GSK und Pfizer. C. Sommer war beratend für die Firmen Astellas, Baxter, Eli Lilly, Pfizer und UCB tätig.

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Authors and Affiliations

  1. Neurologische Klinik, Universitätsklinikum Würzburg, Josef-Schneider-Str. 11, 97080, Würzburg, Deutschland

    N. Üçeyler & C. Sommer

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  1. N. Üçeyler
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  2. C. Sommer
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Correspondence to N. Üçeyler.

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Üçeyler, N., Sommer, C. Morbus Fabry. Schmerz 26, 609–619 (2012). https://doi.org/10.1007/s00482-012-1238-1

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  • DOI: https://doi.org/10.1007/s00482-012-1238-1

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