ArticlePain research & management2006
A survey of the pain experienced by males and females with Fabry disease.
Article in Pain research & management, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT04798573 (Phenomics and Genomics of Clinically Relevant Chronic Postsurgical Pain), which is not on this map. Cited by 19 papers, 2 of them syntheses that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Phenomics and Genomics of Clinically Relevant Chronic Postsurgical Pain: A Multicenter Prospective Study
Who cites it
19 citing papers in PubMed, 2 syntheses or guidelines pooled it, 29 citations in OpenAlex.
- A systematic literature review on the health-related quality of life and economic burden of Fabry disease.Orphanet journal of rare diseases · 2024Pooled it
- Quality of life in patients with Fabry disease: a systematic review of the literature.Orphanet journal of rare diseases · 2015Pooled it
- Sex-Based Disparities in Fabry Disease Cause Challenges in Newborn Screening.Public health genomics · 2026Article
- Fabry disease in females: organ involvement and clinical outcomes compared with the general population (103/150 characters).Orphanet journal of rare diseases · 2025Review
- Characterizing pain in patients with Fabry disease: findings from a web-based cross-sectional survey in the US.Orphanet journal of rare diseases · 2025Article
- Fabry Disease in Women: Genetic Basis, Available Biomarkers, and Clinical Manifestations.Genes · 2023Review
- The potential consequences of bidirectional promoter methylation onBiomedical reports · 2022Article
- Left to themselves: Time to target chronic pain in childhood rare diseases.Neuroscience and biobehavioral reviews · 2021Review
- Characteristics of Neurological Symptoms in Adult Japanese Patients with Fabry Disease.Internal medicine (Tokyo, Japan) · 2021Article
- Review
- Unexplored regulatory sequences of divergently pairedExperimental and therapeutic medicine · 2021Article
- Migraine and rare neurological disorders.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2020Review
- Symptoms and Quality of Life in Patients with Fabry Disease: Results from an International Patient Survey.Advances in therapy · 2019Article
- Parkinson's disease prevalence in Fabry disease: A survey study.Molecular genetics and metabolism reports · 2018Article
- Increased expression of Trpv1 in peripheral terminals mediates thermal nociception in Fabry disease mouse model.Molecular pain · 2016Article
- Self-administered version of the Fabry-associated pain questionnaire for adult patients.Orphanet journal of rare diseases · 2015Article
- Fabry disease in patients with migraine with aura.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2010Article
- Disease rarity, carrier status, and gender: a triple disadvantage for women with Fabry disease.Journal of genetic counseling · 2008Article
- Ion channels and pain in Fabry disease.Molecular painReview
Corrections and comments
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Authors and funding
5 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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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