ArticleEuropean journal of pain (London, England)2025
Prevalence of Fabry disease in patients with chronic pain: Lessons from the DOUFAB and DOUFABIS studies.
Article in European journal of pain (London, England), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02450604 (Prevalence of Fabry's Disease in a Population of Patients With Chronic Pain), which is not on this map. Cited by 2 papers.
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Prevalence of Fabry's Disease in a Population of Patients With Chronic Pain
Who cites it
2 citing papers in PubMed.
- Is Fabry disease more prevalent than we think? Understanding the critical role of family screening can make all the difference.International urology and nephrology · 2026Article
- Prevalence of Fabry disease in patients with chronic pain: Lessons from the DOUFAB and DOUFABIS studies.European journal of pain (London, England) · 2025Article
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Authors and funding
19 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundFabry disease (FD) is a rare X-linked lysosomal disorder caused by alpha-galactosidase deficiency consecutive to a pathogenic variant in the GLA gene. Age at onset is highly variable, with a wide clinical spectrum including frequent renal, cardiac, skin and nervous system manifestations. Since pain can be an indicator of underlying FD, we wanted to estimate the prevalence of FD in a population of chronic pain patients.
methodsTwo studies, DOUFAB and DOUFABIS, were carried out in expert centers for chronic pain to assess the prevalence of FD by measuring alpha galactosidase A activity in men and analysing the GLA gene in women.
resultsAnalysis of 893 patients, essentially adults, led to the diagnosis of FD in one female patient, now treated with enzyme replacement therapy.
conclusionsThe prevalence of FD is estimated about 1/1000 in our population of men and women suffering from various chronic pain. This is nearly the prevalence of FD observed in other previously screened high-risk populations with renal failure. SIGNIFICANCE: Although a systematic search for FD does not seem relevant in the context of unexplained chronic pain in adults, a positive family history of FD or the presence of additional FD related organ features must lead to consider this rare disease diagnosis. Therefore, pain specialists need to be aware of main features of FD, including pain characteristics.
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