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. 2025 Jan;29(1):e4708.
doi: 10.1002/ejp.4708. Epub 2024 Aug 4.

Prevalence of Fabry disease in patients with chronic pain: Lessons from the DOUFAB and DOUFABIS studies

Chloé Angelini  1   2 , Claire Bar  2   3 , Marie Pierre Baudier  1 , Patricia Fergelot  4 , Gwenaëlle Lancelot  4 , Caroline Rooryck  4   5 , Dominique P Germain  6   7 , Firas Jabbour  6   7 , Anne-Sophie Blanchet  8 , Alexandre Cauchie  8 , Elisabeth Sarrazin  9 , Rémi Bellance  9 , Jean-Pascal Lefaucheur  10   11 , Julie Bismuth  10   11 , Stéphanie Ranque-Garnier  12 , Virginie Corand  8 , Isabelle Coupry  2   5 , Cyril Goizet  1   2   5 ; DOUFABIS Consortium
Collaborators, Affiliations

Prevalence of Fabry disease in patients with chronic pain: Lessons from the DOUFAB and DOUFABIS studies

Chloé Angelini et al. Eur J Pain. 2025 Jan.

Abstract

Background: Fabry 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.

Methods: Two 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.

Results: Analysis of 893 patients, essentially adults, led to the diagnosis of FD in one female patient, now treated with enzyme replacement therapy.

Conclusions: The 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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Conflict of interest statement

I.C. received financial support for research activity from Sanofi. C.G. received consulting fees from Sanofi and Amicus; honoraria from Takeda, Sanofi, Amicus and Chiesi for participation in an advisory board, and for lectures; financial support for research activities from TKT5S, Shire, Sanofi and inscriptions and travels for congresses were funded by Shire, Sanofi, Takeda, Amicus and Chiesi. D.P.G. is a consultant for Chiesi, Sanofi and Takeda. Others: No conflict of interest. None of the above relationships influenced the conduct of the present study.

Figures

FIGURE 1
FIGURE 1
Schematic representation of the process and main results of the DOUFAB and DOUFABIS projects.
See this image and copyright information in PMC

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