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Fabry disease: results of the first UK hemodialysis screening study

E F Wallin1, M R Clatworthy, N R Pritchard

  • 1Division of Renal Medicine, University of Cambridge Department of Medicine, and Addenbrooke's Hospital, Cambridge, UK. lizwallin@doctors.org.uk

Clinical Nephrology
|May 27, 2011
PubMed

Insights

This study screened 155 UK hemodialysis patients for Fabry disease using the dried blood spot (DBS) test. No new cases were identified, and the DBS assay showed a 2.6% false positive rate, highlighting the need for confirmatory testing.

Area of Science:

  • Biochemistry
  • Genetics
  • Nephrology

Background:

  • Fabry disease is an X-linked lysosomal storage disorder caused by alpha-Galactosidase A (α-Gal A) deficiency.
  • Accumulation of glycosphingolipids affects the vascular endothelium, kidneys, and heart.
  • Adult-onset renal impairment can occur in individuals with atypical, low α-Gal A activity.

Purpose of the Study:

  • To screen undiagnosed Fabry disease in end-stage renal failure (ESRF) patients using the dried blood spot (DBS) enzyme activity test.
  • To evaluate the utility of DBS screening in a UK hemodialysis population.

Main Methods:

  • Screened 155 male hemodialysis patients at a UK center using the DBS assay for α-Gal A activity.
  • Performed confirmatory testing of plasma and leucocyte α-Gal A activity in patients with low DBS enzyme activity.

Main Results:

  • Low enzyme activity was observed on DBS in 8 out of 155 patients (5%).
  • Confirmatory testing revealed normal α-Gal A activity in all tested cases, indicating false positive DBS results.
  • The DBS enzyme assay demonstrated a false positive rate of 2.6% in this cohort.

Conclusions:

  • This initial screening program in UK hemodialysis patients did not identify new cases of Fabry disease.
  • The study underscores the necessity of validating DBS enzyme assay results with alternative diagnostic techniques due to observed false positives.
  • The findings emphasize careful interpretation of DBS screening for Fabry disease in ESRF populations.
Abstract

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