ArticleClinical epidemiology2026
Positive Predictive Values of Familial Hypercholesterolemia Diagnoses in the Danish National Patient Registry and the Danish Familial Hypercholesterolemia Registry - A Validation Study.
Article in Clinical epidemiology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Introduction: The Danish Familial Hypercholesterolemia (FH) Registry (DFH) was established in 2020 to monitor the detection rate of FH and quality of care provided among patients with FH. DFH is nationwide, and together with the Danish National Patient Registry (DNPR) includes more than 10,000 registered cases of FH. However, the validity of FH diagnoses in the DNPR and DFH is unknown. Purpose: We aimed to investigate the positive predictive value of FH cases registered in the DNPR and DFH. Methods: We retrospectively retrieved a nationwide random sample of 800 patients with an FH diagnosis registered in the DNPR between 1 Results: We found a positive predictive value of 63.8% (95% CI: 60.7; 67.0) for an FH diagnosis recorded in the DNPR (510/800), and 88.1% (95% CI: 82.2; 92.3%) for those diagnosed with genetic FH (141/160). A primary diagnosis of FH registered by cardiological departments had a positive predictive value of 71.0% (95% CI: 67.2; 74.6%) (417/587), and 88.3% (95% CI: 82.6; 92.8%) for genetic FH (113/128), respectively. The positive predictive value of FH cases registered in the DFH was 83.0% (95% CI: 78.9; 86.5) (318/383). Conclusion: The validity of FH cases in the DFH was high, while the validity of an FH diagnosis in the DNPR was relatively low. However, restricting the analysis to a primary diagnosis obtained from cardiological departments may be used to improve the validity of FH diagnoses in the DNPR.
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