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.
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Üçeyler, N., Sommer, C. (2013). Morbus Fabry. In: Göbel, H., Sabatowski, H. (eds) Weiterbildung Schmerzmedizin. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-40740-6_4
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