Modern prevalence of dysbetalipoproteinemia (Fredrickson-Levy-Lees type III hyperlipoproteinemia)
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Ciccarone Center for the Prevention of Cardiovascular Disease, Division of Cardiology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA
Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, USA
Department of Medicine, Community Hospital General Medical Center, Sterling, IL, USA
Welch Center for Prevention, Epidemiology, and Clinical Research, Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, USA
Cardiovascular Research Centre, University of Zielona Gora, Zielona Gora, Poland
Department of Internal Medicine, University of Cape Town Health Sciences, Cape Town, South Africa
Department of Medicine and Institute for Translational Medicine and Therapeutics, University of Pennsylvania Health System, Philadelphia, PA
Division of Cardiology, McGill University Health Centre, Montreal, Quebec, Canada
Submission date: 2019-07-03
Acceptance date: 2019-07-04
Online publication date: 2019-08-02
Publication date: 2020-08-06
Arch Med Sci 2020;16(5):993-1003
Dysbetalipoproteinaemia (HLP3) is a disorder characterized by excess cholesterol-enriched, triglyceride-rich lipoprotein remnants in genetically predisposed individuals that powerfully promote premature cardiovascular disease if untreated. The current prevalence of HLP3 is largely unknown.

Material and methods:
We performed cross-sectional analysis of 128,485 U.S. adults from the Very Large Database of Lipids (VLDbL), using four algorithms to diagnose HLP3 employing three Vertical Auto Profile ultracentrifugation (UC) criteria and a previously described apolipoprotein B (apoB) method. We evaluated 4,926 participants from the 2011–2014 National Health and Nutrition Examination Survey (NHANES) with the apoB method. We examined demographic and lipid characteristics stratified by presence of HLP3 and evaluated lipid characteristics in those with HLP3 phenotype discordance and concordance as determined by apoB and originally defined UC criteria 1.

In U.S. adults in VLDbL and NHANES, a 1.7–2.0% prevalence is observed for HLP3 with the novel apoB method as compared to 0.2–0.8% prevalence in VLDbL via UC criteria 1–3. Participants who were both apoB and UC criteria HLP3 positive had higher remnant particles as well as more elevated triglyceride/apoB and total cholesterol/apoB ratios (all p < 0.001) than those who were apoB method positive and UC criteria 1 negative.

HLP3 may be more prevalent than historically and clinically appreciated. The apoB method increases HLP3 identification via inclusion of milder phenotypes. Further work should evaluate the clinical implications of HLP3 diagnosis at various lipid algorithm cut-points to evaluate the ideal standard in the modern era.

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