Prevalence of Dysbetalipoproteinemia in the UK Biobank According to Different Diagnostic Criteria

Author:

Paquette Martine1ORCID,Trinder Mark23ORCID,Guay Simon-Pierre14ORCID,Brunham Liam R23ORCID,Baass Alexis15ORCID

Affiliation:

1. Lipids, Nutrition, and Cardiovascular Prevention Clinic of the Montreal Clinical Research Institute , Montreal, Québec H2W 1R7 , Canada

2. Department of Medicine, Faculty of Medicine, University of British Columbia , Vancouver, British Columbia V6Z 1Y6 , Canada

3. Centre for Heart and Lung Innovation, University of British Columbia , Vancouver, British Columbia V6Z 1Y6 , Canada

4. Department of Medicine, Division of Endocrinology, Université de Montréal , Montréal, Québec H3T 1J4 , Canada

5. Department of Medicine, Divisions of Experimental Medicine and Medical Biochemistry, McGill University , Montreal, Québec H3G 2M1 , Canada

Abstract

Abstract Context Dysbetalipoproteinemia (DBL) is a multifactorial disorder that disrupts the normal metabolism of remnant lipoproteins, causing increased risk of cardiovascular disease. However, establishing a proper diagnosis is difficult, and the true prevalence of the disease in the general population remains unknown. Objective The objectives were to study the prevalence of the disease and to validate the performance of different clinical diagnostic criteria in a large population-based cohort. Methods This study included 453 437 participants from the UK Biobank. DBL was established in participants having an ε2ε2 genotype with mixed dyslipidemia or lipid-lowering therapy use (n = 964). The different diagnostic criteria for DBL were applied in individuals without lipid-lowering medication (n = 370 039, n = 534 DBL), to compare their performance. Results Overall, 0.6% of participants had an ε2ε2 genotype, of which 36% were classified as DBL, for a disease prevalence of 0.2% (1:469). The prevalence of DBL was similar between the different genetic ancestries (≤0.2%). Several diagnostic criteria showed good sensitivity for the diagnosis of DBL (>90%), but they suffered from a very low positive predictive value (0.6-15.4%). Conclusion This study reported for the first time the prevalence of DBL in the UK Biobank according to genetic ancestry. Furthermore, we provided the first external validation of different diagnostic criteria for DBL in a large population-based cohort and highlighted the fact that these criteria should not be used to diagnose DBL alone but should rather be used as a first screening step to determine which individuals may benefit from genetic testing to confirm the diagnosis.

Publisher

The Endocrine Society

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