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

Year: 2026

Type: article

Abstract: BACKGROUND: It is unclear whether cardiovascular risk factors are more common or if cardiovascular disease occurs more frequently in adults with late-onset Pompe disease (LOPD) than in the general population. We investigated the prevalence of cardiovascular risk factors and cardiovascular events in adults with LOPD compared to an individually matched control cohort. METHODS: ). Assessments included measurement of height, weight, waist-hip circumference, 30 min blood pressure measurement, electrocardiogram, and blood and urine laboratory analysis. Medical history of cardiovascular risk factors and events were collected via questionnaires and patient records. RESULTS: ) were included. Patients had a higher resting heart rate (76 vs. 66 BPM, p < 0.001), larger waist circumference (93 vs. 90 cm, p = 0.011) and waist-to-hip ratio (0.91 vs. 0.86, p = 0.005). A greater proportion of patients than controls had a history of hypertension (32% vs. 14%; p = 0.026). More patients than controls (19 vs. 9%) experienced a cardiovascular event in the past, but this difference was not statistically significant. CONCLUSION: Patients with LOPD showed a less favorable cardiovascular risk profile compared to an individually matched control cohort. The prevalence of cardiovascular events did not significantly differ between the cohorts, although our study is likely underpowered to detect subtle differences due to the low number of events.

Source: Orphanet Journal of Rare Diseases

DOI: 10.1186/s13023-026-04400-8