Prevalence of Raynaud Phenomenon and Nailfold Capillaroscopic Abnormalities in Fabry Disease

Abstract

Fabry disease (FD) is a lysosomal disorder leading to progressive systemic involvement, including microvascular damage that leads to neurological and cardiovascular disorders. We hypothesize that the latter could be documented at an early stage by performing a microcirculation study with nailfold capillaroscopy and evaluation of Raynaud phenomenon.The objective was to measure the prevalence of Raynaud phenomenon and nailfold capillaroscopic abnormalities in FD.This cross-sectional study included a standardized questionnaire and a nailfold capillaroscopy that assessed previously reported patterns in FD (dystrophic and giant capillaries, avascular fields, irregular architecture, dilatation and density of capillaries, hemorrhage), and was conducted on 32 Fabry patients and 39 controls. Capillaroscopic photographs were reviewed by 2 independent blinded investigators.Twelve Fabry patients (38%) suffered from Raynaud phenomenon, 5 were males (ie, 50% of male Fabry patients), compared with 2 controls (13%) (P < 0.001), of whom none were males (P < 0.001). Raynaud phenomenon was concomitant or before the occurrence of pain in the extremities in 42% of Fabry patients.More ramified capillaries were significantly observed in Fabry patients (12/32, 38%) than in controls (5/39, 13%, P = 0.016).Secondary Raynaud phenomenon should lead to screening for FD, especially in men. By extension, in high-risk populations for FD, the presence of Raynaud phenomenon and ramified capillaries should be assessed.

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BibTeX RIS

BibTeX

@article{deshayes2026prevalence,
  title = {{Prevalence of Raynaud Phenomenon and Nailfold Capillaroscopic Abnormalities in Fabry Disease}},
  author = {Samuel Deshayes and Laurent Auboire and Roland Jaussaud and Olivier Lidove and Jean-Jacques Parienti and Nathalie Triclin and Bernard Imbert and Boris Bienvenu and Achille Aouba},
  journal = {Medicine (Wolters)},
  year = {2026},
  month = sep,
  doi = {10.1097/md.0000000000000780},
  url = {https://hal.science/hal-05750521v1},
  note = {CC BY},
}

RIS

TY  - JOUR
TI  - Prevalence of Raynaud Phenomenon and Nailfold Capillaroscopic Abnormalities in Fabry Disease
AU  - Samuel Deshayes
AU  - Laurent Auboire
AU  - Roland Jaussaud
AU  - Olivier Lidove
AU  - Jean-Jacques Parienti
AU  - Nathalie Triclin
AU  - Bernard Imbert
AU  - Boris Bienvenu
AU  - Achille Aouba
PY  - 2026
DA  - 2026/09/15
JO  - Medicine (Wolters)
DO  - 10.1097/md.0000000000000780
UR  - https://hal.science/hal-05750521v1
AB  - Fabry disease (FD) is a lysosomal disorder leading to progressive systemic involvement, including microvascular damage that leads to neurological and cardiovascular disorders. We hypothesize that the latter could be documented at an early stage by performing a microcirculation study with nailfold capillaroscopy and evaluation of Raynaud phenomenon.The objective was to measure the prevalence of Raynaud phenomenon and nailfold capillaroscopic abnormalities in FD.This cross-sectional study included a standardized questionnaire and a nailfold capillaroscopy that assessed previously reported patterns in FD (dystrophic and giant capillaries, avascular fields, irregular architecture, dilatation and density of capillaries, hemorrhage), and was conducted on 32 Fabry patients and 39 controls. Capillaroscopic photographs were reviewed by 2 independent blinded investigators.Twelve Fabry patients (38%) suffered from Raynaud phenomenon, 5 were males (ie, 50% of male Fabry patients), compared with 2 controls (13%) (P < 0.001), of whom none were males (P < 0.001). Raynaud phenomenon was concomitant or before the occurrence of pain in the extremities in 42% of Fabry patients.More ramified capillaries were significantly observed in Fabry patients (12/32, 38%) than in controls (5/39, 13%, P = 0.016).Secondary Raynaud phenomenon should lead to screening for FD, especially in men. By extension, in high-risk populations for FD, the presence of Raynaud phenomenon and ramified capillaries should be assessed.
SN  - 0025-7974
SN  - 1536-5964
ER  -

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