[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.