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

Abstract

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.

Objectives: 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.

Figures

Figure 1)

Pain intensity ratings of various everyday pains compared with ratings of Fabry disease-related pain (1 = not at all intense to 5 = as intense as can be). Fabry disease-related pain was rated significantly more intense than each of the other pains, for both males and females for multiple comparisons of Fabry disease-related pain with each of the other five pains using Bonferroni’s type I error rate correction.*P

Figure 2)

Ratings of how distressing the different dimensions of Fabry disease-related pain were reported to be by females and males (1 = least distressing to 5 = most distressing). There were no significant differences in the ratings between females and males

Figure 3)

Ratings of how disabling the various types of Fabry disease-related pain were reported to be (1 = least disabling to 5 = most disabling). Simple effects of sex by type of pain interaction showed that female ratings of headache and migraine disability were significantly greater than male ratings.*P