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Comparative Study
. 2006 Autumn;11(3):185-92.
doi: 10.1155/2006/828964.

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

Andrea L Gibas  1 , Regan Klatt, Jack Johnson, Joe T R Clarke, Joel Katz
Affiliations
Comparative Study

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

Andrea L Gibas et al. Pain Res Manag. 2006 Autumn.

Abstract
in English, French

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.

HISTORIQUE: L’apparition clinique de la maladie de Fabry, un trouble multisystémique rare lié au X, est marquée par des douleurs neuropathiques. Les hommes souffrent énormément de cette maladie. Les femmes, en qualité de porteuses génétiques, ont toujours été perçues comme asymptomatiques ou peu touchées par la maladie.

OBJECTIFS: Décrire les douleurs reliées à la maladie de Fabry et comparer les expériences selon le sexe. La perception qu’ont les patients des évaluations de la douleur par les médecins est également évaluée.

MÉTHODOLOGIE: Un questionnaire portant sur la maladie était accessible par voie électronique (www.fabry,org) et a été posté à 552 membres d’un groupe d’entraide de la maladie de Fabry.

RÉSULTATS: Le taux de réponse était de 14,3 % au sein du groupe d’entraide ayant reçu le questionnaire par la poste. Les femmes (58,0 %) étaient considérablement plus âgées (moyenne±ÉT de 45,9±13,5 ans) que les hommes (moyenne±ÉT de 40,0±12,1 ans; t [86]=−2,11, P<0,05). Le diagnostic de maladie de Fabry était posé plus tard chez les femmes (31,1±14,0 ans) que chez les hommes (24,2±11,9 ans; t [86]=−2,43, P<0,05). Les femmes (indice moyen d’appréciation de l’incapacité causée par la douleur de 3,0±1,4) souffraient d’une incapacité plus marquée causée par les douleurs migraineuses (indice moyen de 2,2±1,3, F [1, 74]=45,0, P<0,005) et, contrairement aux hommes, ne remarquaient pas de diminution de l’intensité de la douleur proportionnelle à la durée de la maladie. Les patients étaient modérément satisfaits de l’évaluation de la douleur par les médecins.

CONCLUSIONS: Contrairement au point de vue classique au sujet des femmes porteuses, les femmes atteintes de la maladie de Fabry souffrent d’intenses douleurs reliées à leur maladie, et la douleur provoquait des souffrances et une atteinte similaires chez les deux sexes. Le retard de diagnostic et l’absence de diminution des symptômes de la douleur chez les femmes au fil du temps laissent supposer un fardeau supplémentaire. Les femmes seraient peutêtre triplement désavantagées au sein du système de santé en raison de leur sexe, de la rareté de la maladie et de la dévaluation de l’état du porteur.

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Figures

Figure 1)
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<0.005
Figure 2)
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)
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<0.005
See this image and copyright information in PMC

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