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Unfavorable cardiovascular risk profile without increased event prevalence in late-onset Pompe disease: an

Harmke A van Kooten1, Danny van Zoest2, Michelle Michels3

  • 1Department of Neurology, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.

Orphanet Journal of Rare Diseases
|May 28, 2026
PubMed

Insights

Adults with late-onset Pompe disease (LOPD) have more cardiovascular risk factors like hypertension and larger waist circumference than the general population. However, cardiovascular events did not significantly differ, though more research is needed.

Area of Science:

  • Cardiology
  • Rare Diseases
  • Metabolic Disorders

Background:

  • Cardiovascular risk and disease prevalence in adults with late-onset Pompe disease (LOPD) remain unclear compared to the general population.
  • Investigating cardiovascular risk factors and events in LOPD patients is crucial for understanding disease impact.

Purpose of the Study:

  • To compare the prevalence of cardiovascular risk factors and events in adults with LOPD against a matched control group.
  • To assess the cardiovascular health profile of individuals diagnosed with late-onset Pompe disease.

Main Methods:

  • Individually matched cohort study comparing 78 LOPD patients with 78 controls based on sex, smoking status, age, and BMI.
  • Comprehensive assessments included anthropometry, blood pressure, ECG, laboratory analysis, and review of medical history for cardiovascular risk factors and events.

Main Results:

  • LOPD patients exhibited higher resting heart rate (76 vs. 66 BPM), larger waist circumference (93 vs. 90 cm), and increased waist-to-hip ratio (0.91 vs. 0.86) compared to controls.
  • A significantly greater proportion of LOPD patients had a history of hypertension (32% vs. 14%).
  • While 19% of LOPD patients reported past cardiovascular events versus 9% in controls, this difference was not statistically significant.

Conclusions:

  • Adults with LOPD present a less favorable cardiovascular risk profile than matched controls, characterized by elevated heart rate, central obesity, and hypertension.
  • The study suggests a potential increased cardiovascular risk in LOPD, though the prevalence of cardiovascular events did not significantly differ, possibly due to study power limitations.
Abstract

Keywords:
Cardiovascular diseaseCardiovascular risk factorsElectrocardiogramHypertensionLate-onset Pompe disease

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