Abstract
AimTo determine the prevalence of undiagnosed Fabry Disease (FD) in Western Australian (WA) patients undergoing dialysis.BackgroundFD 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.MethodsA 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.ResultsBetween 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.ConclusionAnalysis of this dialysis population has shown a prevalence of 0% undiagnosed FD. False positives results may occur through impaired protein synthesis and sample handling.
Highlights
Fabry disease (FD) is a multisystem X-linked lysosomal storage disease caused by deficient activity of alphagalactosidase-A (α-GAL-A)
Between February 2015 & September 2017, α-GAL-A activity was performed on 526 patients at 16 dialysis sites
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
Summary
FD is a multisystem X-linked lysosomal storage disease caused by deficient activity of alphagalactosidase-A (α-GAL-A). Diagnosis is often delayed by years or even decades. Screening high risk population such as dialysis patients may identify patients with undiagnosed Fabry disease. Fabry disease (FD) is a multisystem X-linked lysosomal storage disease caused by deficient activity of alphagalactosidase-A (α-GAL-A). This results in an accumulation of glycosphingolipids with terminal α-D-galactosyl residue globotriaosylceramide and globotriaosylsphingosine [1] in organs, namely kidney, heart, peripheral nerves and brain. Non-specificity and overlap of α-GAL-A activity with normal range amongst heterozygous women often leads to diagnostic delay or misdiagnosis, negatively impacting a patient’s diagnostic odyssey. Diagnosis in some instances can be delayed by years or decades [2]. Affected family members can be diagnosed through family screening and managed early to prevent irreversible complications
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