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Nailfold capillaroscopy: Specific features in Fabry disease.

Jan S Wasik1, Roger W Simon, Thomas Meier

  • 1Division of Angiology, Department of Internal Medicine, University Hospital of Zurich, Zurich, Switzerland.

Clinical Hemorheology and Microcirculation
|May 13, 2009
PubMed
Summary

Nailfold capillaroscopy reveals microvascular changes in Fabry disease, a rare genetic disorder. This non-invasive technique may aid in diagnosing Fabry disease and understanding associated Raynaud phenomenon.

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Published on: October 27, 2015

Area of Science:

  • Vascular biology
  • Rare genetic disorders
  • Diagnostic imaging

Background:

  • Fabry disease is an X-linked disorder caused by alpha-galactosidase A deficiency.
  • Metabolic defects lead to globotriaosylceramide accumulation, affecting renal, cardiac, and cerebrovascular systems.
  • Understanding in vivo capillary changes is crucial for diagnosis and management.

Purpose of the Study:

  • To assess nailfold capillaroscopy as a non-invasive diagnostic tool for Fabry disease.
  • To characterize in vivo morphological and functional capillary alterations in Fabry patients.
  • To explore the link between capillary changes and Raynaud phenomenon in Fabry disease.

Main Methods:

  • Fluorescence nailfold capillaroscopy performed on 25 Fabry disease patients (17 males) not on enzyme-replacement therapy.
  • Digital pulse volume recording used to assess macrocirculation in digital arteries.
  • Patient-reported Raynaud phenomenon incidence was recorded.

Main Results:

  • Fabry patients exhibited significantly more bushy capillaries and clusters (72%) compared to healthy controls (10%).
  • Avascular fields were absent; atypical architecture and giant capillaries were rare findings.
  • Enhanced sodium-fluorescein diffusion observed in 3 male patients; 6 patients reported Raynaud phenomenon.

Conclusions:

  • Morphological and functional microangiopathy of nailfold capillaries is evident in Fabry disease.
  • These findings may explain the high frequency of Raynaud phenomenon in Fabry patients.
  • Capillaroscopy shows potential as an additional non-invasive diagnostic tool for Fabry disease.