A survey of the pain experienced by males and females with Fabry disease.
BACKGROUND
The 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.


OBJECTIVE
To describe Fabry-related pain and compare experiences between the sexes. Patients' perceptions of physician pain assessments were also examined.


METHODS
A disease-specific questionnaire was accessible on-line (www.fabry.org) and mailed to 552 members of a Fabry disease support group.


RESULTS
The 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.


CONCLUSIONS
Contrary 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.
Gibas
Andrea L
AL
York University, Department of Psychology, School of Kinesiology and Health Science, Toronto, Ontario.
Klatt
Regan
R
Johnson
Jack
J
Clarke
Joe T R
JT
Katz
Joel
J
D000328:Adult; D000704:Analysis of Variance; D016009:Chi-Square Distribution; D004185:Disability Evaluation; D000795:Fabry Disease / Q000150:complications* / Q000453:epidemiology; D005260:Female; D006306:Health Surveys; D006801:Humans; D008297:Male; D008875:Middle Aged; D010146:Pain / Q000145:classification / Q000453:epidemiology / Q000209:etiology* / Q000523:psychology*; D010147:Pain Measurement / Q000379:methods; D015995:Prevalence; D012727:Sex Characteristics