Prevalence of Fabry disease in dialysis patients: Western Australia Fabry disease screening study - the FoRWARD study

Jahan, Sadia, Sarathchandran, Subashini, Akhter, Shamina, Goldblatt, Jack, Stark, Samantha, Crawford, Douglas, Mallett, Andrew, and Thomas, Mark (2020) Prevalence of Fabry disease in dialysis patients: Western Australia Fabry disease screening study - the FoRWARD study. Orphanet Journal of Rare Diseases, 15. 10.

PDF (Published Version) - Published Version
Available under License Creative Commons Attribution.

Download (573kB) | Preview
View at Publisher Website:


Aim: To determine the prevalence of undiagnosed Fabry Disease (FD) in Western Australian (WA) patients undergoing dialysis.

Background: FD is a multisystem X-linked lysosomal storage disease caused by deficient activity of alpha-galactosidase-A (α-GAL-A). Affected individuals are at risk of developing small-fibre neuropathy, rash, progressive kidney disease, hypertrophic cardiomyopathy and ischaemic stroke. Diagnosis is often delayed by years or even decades. Screening high risk population such as dialysis patients may identify patients with undiagnosed Fabry disease.

Methods: A cross-sectional study was undertaken of all adult patients receiving dialysis in WA, without previously known FD. After informed consent they were screened for α-GAL-A activity by dried blood spot samples. Low or inconclusive activity were repeated via Centogene in Rostock, Germany with GLA genetic analysis. Ethics approval was granted by Royal Perth Hospital Human Research Ethic Committee REG 14–136; site-specific approval was granted from appropriate authorities; ANZ Clinical Trials Registry U1111–1163-7629.

Results: Between February 2015 & September 2017, α-GAL-A activity was performed on 526 patients at 16 dialysis sites. Twenty-nine patients had initial low α-GAL-A; repeat testing & GLA genotyping showed no confirmed FD cases. The causes of false positive rates were thought to be secondary to impaired protein synthesis due to patient malnutrition and chronic inflammation, which is common among dialysis patients, in addition to poor sampling handling.

Conclusion: Analysis of this dialysis population has shown a prevalence of 0% undiagnosed FD. False positives results may occur through impaired protein synthesis and sample handling.

Item ID: 67858
Item Type: Article (Research - C1)
ISSN: 1750-1172
Copyright Information: © The Author(s) 2020. This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (, which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver ( applies to the data made available in this article, unless otherwise stated.
Date Deposited: 05 Jul 2022 23:56
FoR Codes: 32 BIOMEDICAL AND CLINICAL SCIENCES > 3202 Clinical sciences > 320214 Nephrology and urology @ 50%
32 BIOMEDICAL AND CLINICAL SCIENCES > 3202 Clinical sciences > 320213 Medical genetics (excl. cancer genetics) @ 50%
SEO Codes: 20 HEALTH > 2001 Clinical health > 200105 Treatment of human diseases and conditions @ 100%
Downloads: Total: 193
Last 12 Months: 80
More Statistics

Actions (Repository Staff Only)

Item Control Page Item Control Page