• N Üçeyler and C Sommer.
• Neurologische Klinik, Universitätsklinikum Würzburg, Josef-Schneider-Str. 11, 97080, Würzburg, Deutschland. ueceyler_n@klinik.uni-wuerzburg.de
• Schmerz. 2012 Sep 1;26(5):609-19.

AbstractFabry 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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