Prevalence of Dysbetalipoproteinemia in the UK Biobank According to Different Diagnostic Criteria
Open accessAbstract
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.
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Familial dysbetalipoproteinemia (FD) is a highly atherogenic, prevalent, genetically based lipid disorder.
“Familial dysbetalipoproteinemia (FD) is a highly atherogenic, prevalent genetically based lipid disorder.”
From Spectrum and Prevalence of Rare APOE Variants and Their Association with Familial Dysbetalipoproteinemia (2024) · cites this paper as [4]
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- Authors
- Paquette, M., Trinder, M., Guay, S.-P., Brunham, L. R., & Baass, A.
- Affiliations
- Montreal Clinical Research Institute (CA)
- University of British Columbia (CA)
- Corresponding author
- Baass, Alexis
- Venue
- The Journal of Clinical Endocrinology & Metabolism
- Publisher
- The Endocrine Society
- Published
- 2024-04-16
- Volume
- 110
- Issue
- 3
- Pages
- e703-e709
- ISSN
- 0021-972X (ISSN-L)
- 1945-7197
- OpenAlex
- W4394857026
- Cited by
- 19
- References
- 23
- Citations by year
- 2026: 7 · 2025: 4 · 2024: 8
- FWCI
- 5.72
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- The Journal of Clinical Endocrinology & Metabolism (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Institut de Recherche Clinique De Montréal
- Topics
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Lipid metabolism and disorders
- Health Sciences › Medicine › Surgery › Lipoproteins and Cardiovascular Health
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Diabetes, Cardiovascular Risks, and Lipoproteins
- Keywords
- dysbetalipoproteinemia, prevalence, diagnostic criteria, remnant lipoproteins, mixed dyslipidemia, genetic ancestry, positive predictive value, screening, genetic testing, cardiovascular risk
- MeSH terms
- UK Biobank, Adult, Aged, Female, Genotype, United Kingdom, Humans, Hyperlipoproteinemia Type III, Male, Middle Aged, Cohort Studies, Prevalence, Biological Specimen Banks, Dyslipidemias, Apolipoprotein E2
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