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Screening for Fabry Disease in patients with unexplained left ventricular hypertrophy
Chandu Sadasivan1,2, Josie T Y Chow3, Bun Sheng4
1Department of Medicine, University of Alberta, Edmonton, Canada.
Plos One
|September 28, 2020
Summary
Screening for Fabry Disease (FD) in patients with unexplained left ventricular hypertrophy (LVH) using Dried Blood Spot (DBS) testing detected FD in 2% of participants. This approach is effective for early diagnosis and treatment initiation.
Area of Science:
- Genetics and Genomics
- Cardiology
- Rare Diseases
Background:
- Fabry Disease (FD) is a systemic disorder impacting cardiovascular, renal, and neurovascular systems, often leading to reduced life expectancy.
- Unexplained left ventricular hypertrophy (LVH) is a key indicator for considering FD in differential diagnoses.
Purpose of the Study:
- To evaluate Dried Blood Spot (DBS) testing as a screening tool for Fabry Disease (FD) in patients with undiagnosed left ventricular hypertrophy (LVH).
- To determine the prevalence of FD in a cohort of patients with unexplained LVH.
Main Methods:
- Prospective screening study involving 266 patients with unexplained LVH in Edmonton and Hong Kong.
- Utilized Dried Blood Spot (DBS) testing to measure α-galactosidase (α-GAL) enzyme activity and perform α-galactosidase (GLA) gene mutation analysis.
Main Results:
- Detected Fabry Disease (FD) in 5 patients (2% prevalence) and one hydroxychloroquine-induced phenocopy.
- Patients with IVS4 + 919G > A mutations exhibited a higher left ventricular mass index (LVMI) compared to those without the mutation.
- Two FD patients were initiated on enzyme replacement therapy (ERT); hydroxychloroquine was discontinued for the phenocopy case.
Conclusions:
- Dried Blood Spot (DBS) testing is an effective and easily administered screening tool for Fabry Disease (FD) in patients with unexplained LVH.
- Screening for FD in this population is clinically significant due to available therapies and the potential for cascade screening in families.
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