Nailfold capillaroscopy: Specific features in Fabry disease.

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.