[Fabry disease : diagnosis and treatment].
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.
Neurologische Klinik, Universitätsklinikum Würzburg, Josef-Schneider-Str. 11, 97080, Würzburg, Deutschland. ueceyler_n@klinik.uni-wuerzburg.de
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D000328:Adult; D000700:Analgesics / Q000627:therapeutic use; D002648:Child; D002675:Child, Preschool; D056947:Enzyme Replacement Therapy; D000795:Fabry Disease / Q000175:diagnosis* / Q000188:drug therapy* / Q000235:genetics / Q000503:physiopathology; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D007223:Infant; D007527:Isoenzymes / Q000627:therapeutic use; D008297:Male; D009437:Neuralgia / Q000175:diagnosis / Q000188:drug therapy / Q000503:physiopathology; D010147:Pain Measurement / Q000187:drug effects; D010523:Peripheral Nervous System Diseases / Q000175:diagnosis / Q000188:drug therapy / Q000503:physiopathology; D000519:alpha-Galactosidase / Q000627:therapeutic use
D000700:Analgesics; D007527:Isoenzymes; D000519:alpha-Galactosidase; C459420:agalsidase beta