Cost Efficacy of α-Galactosidase A Enzyme Screening for Fabry Disease.

Autor:	Newman DB; Department of Cardiovascular Diseases, Mayo Clinic, Rochester, MN. Electronic address: newman.darrell@mayo.edu., Miranda WR; Department of Cardiovascular Diseases, Mayo Clinic, Rochester, MN., Matern D; Department of Pediatrics, Division of Pediatric Cardiology, Mayo Clinic, Rochester, MN; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN; Department of Clinical Genomics, Mayo Clinic, Rochester, MN., Peck DS; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN., Geske JB; Department of Cardiovascular Diseases, Mayo Clinic, Rochester, MN., Maleszewski JJ; Department of Cardiovascular Diseases, Mayo Clinic, Rochester, MN; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN; Department of Clinical Genomics, Mayo Clinic, Rochester, MN., Ommen SR; Department of Cardiovascular Diseases, Mayo Clinic, Rochester, MN., Ackerman MJ; Department of Cardiovascular Diseases, Mayo Clinic, Rochester, MN; Department of Pediatrics, Division of Pediatric Cardiology, Mayo Clinic, Rochester, MN; Department of Molecular Pharmacology and Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, MN.
Jazyk:	angličtina
Zdroj:	Mayo Clinic proceedings [Mayo Clin Proc] 2019 Jan; Vol. 94 (1), pp. 84-88.
DOI:	10.1016/j.mayocp.2018.08.009
Abstrakt:	The prevalence of Fabry disease (FD) in adult patients with suspected hypertrophic cardiomyopathy (HCM) has been reported between 0.3% and 4%. Fabry disease-specific therapy necessitates early diagnosis; however, the optimal screening strategy and cost efficacy of routine α-galactosidase A (α-gal A) vs comprehensive galactosidase alpha gene (GLA) testing remain poorly understood. We identified 1192 patients who underwent routine α-gal A screening between January 1, 2011, and December 31, 2017, for suspected HCM. Cost efficacy was explored using prevalence and cost estimates. Ten patients had reduced α-gal A enzyme activity, and 5 (3 women) were ultimately diagnosed with FD (prevalence estimate, 0.42%). An alternative cardiac diagnosis was made in 3 patients with mildly reduced enzyme activity. Two women with reduced borderline enzyme levels did not undergo confirmatory testing, but FD was not suspected. The number needed to screen to diagnose 1 patient with FD in a similar cohort is estimated at 238 (5 new cases per 1192 at-risk individuals) at a cost of approximately US $24,000 per diagnosis. We identified a 0.42% prevalence of FD using routine α-gal A screening in adult patients referred to a dedicated HCM center in the United States. Compared with more comprehensive genetic testing strategies, we identified a similar prevalence of FD at a lower cost per diagnosis. (Copyright © 2018 Mayo Foundation for Medical Education and Research. Published by Elsevier Inc. All rights reserved.)
Databáze:	MEDLINE
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