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

Darrell B Newman1, William R Miranda1, Dietrich Matern2

  • 1Department of Cardiovascular Diseases, Mayo Clinic, Rochester, MN.

Mayo Clinic Proceedings
|January 7, 2019
PubMed

Insights

Routine alpha-galactosidase A screening effectively identifies Fabry disease (FD) in hypertrophic cardiomyopathy patients. This approach offers a similar prevalence detection to genetic testing but at a lower cost per diagnosis.

Area of Science:

  • Cardiology
  • Genetics
  • Rare Diseases

Background:

  • Fabry disease (FD) affects 0.3%-4% of adults with suspected hypertrophic cardiomyopathy (HCM).
  • Early FD diagnosis is crucial for initiating timely, disease-specific therapies.
  • Optimal screening strategies and cost-effectiveness of alpha-galactosidase A (α-gal A) versus comprehensive GLA gene testing are unclear.

Purpose of the Study:

  • To determine the prevalence of FD in adult patients with suspected HCM using routine α-gal A screening.
  • To evaluate the cost-effectiveness of α-gal A screening compared to comprehensive genetic testing for FD.
  • To assess the utility of α-gal A screening in a dedicated HCM center.

Main Methods:

  • Retrospective analysis of 1192 patients screened for suspected HCM between 2011-2017.
  • Routine α-gal A enzyme activity testing was performed.
  • Prevalence and cost estimates were used to explore cost-effectiveness.

Main Results:

  • A prevalence of 0.42% for FD was identified (5 new cases out of 1192 patients).
  • Ten patients exhibited reduced α-gal A activity; 5 were diagnosed with FD (3 women).
  • The number needed to screen was 238, with an estimated cost of $24,000 per diagnosis.

Conclusions:

  • Routine α-gal A screening detected FD with a 0.42% prevalence in adult HCM patients.
  • This screening method identified a similar FD prevalence to comprehensive genetic testing at a lower cost per diagnosis.
  • α-gal A screening is a cost-effective strategy for diagnosing FD in patients referred to HCM centers.

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