Neuropathic pain in Anderson-Fabry disease: pathology and therapeutic options.
An inherited deficiency of the enzyme alpha-galactosidase A is manifest clinically as Anderson-Fabry disease. Most affected patients present with severe peripheral pain in childhood or early adult life, and frequently progress to multi-organ failure by the 4th or 5th decades. The present review examines the probable mechanisms that contribute to pain in these patients, and outlines some of the treatment options that are currently used. The successful outcome of the first two trials of enzyme replacement therapy suggest that this disease might be amenable in the future to gene therapy.
MacDermot
J
J
Medicine and Therapeutics, Division of Medicine, Imperial College School of Medicine, Chelsea & Westminster Hospital, London SW10 9NH, UK. j.macdermot@ic.ac.uk
MacDermot
K D
KD
D002986:Clinical Trials as Topic / Q000379:methods / Q000706:statistics & numerical data / Q000639:trends; D000795:Fabry Disease / Q000188:drug therapy* / Q000473:pathology*; D006801:Humans; D020422:Mononeuropathies / Q000188:drug therapy* / Q000473:pathology*; D010146:Pain / Q000188:drug therapy* / Q000473:pathology*; D011115:Polyneuropathies / Q000188:drug therapy* / Q000473:pathology*