• Andrea L Gibas, Regan Klatt, Jack Johnson, Joe T R Clarke, and Joel Katz.
• York University, Department of Psychology, School of Kinesiology and Health Science, Toronto, Ontario.
• Pain Res Manag. 2006 Jan 1;11(3):185-92.

BackgroundThe clinical onset of Fabry disease, a rare, X-linked, multisystemic disorder, is marked by neuropathic pain. Males suffer extensively from this disease. Females, as genetic 'carriers', have traditionally been viewed as either asymptomatic or mildly afflicted with this disease.ObjectivesTo describe Fabry-related pain and compare experiences between the sexes. Patients' perceptions of physician pain assessments were also examined.MethodsA disease-specific questionnaire was accessible on-line (www.fabry.org) and mailed to 552 members of a Fabry disease support group.ResultsThe response rate was 14.3% for the support group-based mail questionnaire. Females (58.0%) were significantly older (mean +/- SD 45.9+/-13.5 years) than males (mean +/- SD 40.0+/-12.1; t [86]=-2.11, P<0.05). Females were diagnosed with Fabry disease later (31.1+/-14.0 years) than males (24.2+/-11.9 years; t [86]=-2.43, P<0.05). Females (mean score for pain disability rating 3.0+/-1.4) suffered more extensive disability from migraine pain (mean score 2.2+/-1.3; F [1, 74]=45.0, P<0.005), and, unlike males, did not exhibit a decline in pain intensity with disease duration. Satisfaction with physician pain assessments was moderate.ConclusionsContrary to the traditional view of females as carriers, females with Fabry disease experienced intense disease-related pain; pain produced comparable distress and impairment in both sexes. The diagnostic delay and absence of a decline in pain symptoms over time in females suggest additional disease burden. Females may be triply disadvantaged in the health care system due to disease rarity, devalued carrier status and sex.

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