Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2022 Aug 1;33(4):227-230.
doi: 10.1097/MOL.0000000000000831.

Diagnosis of remnant hyperlipidaemia

Martine Paquette  1 , Sophie Bernard  1   2 , Alexis Baass  1   3
Affiliations
Review

Diagnosis of remnant hyperlipidaemia

Martine Paquette et al. Curr Opin Lipidol. .

Abstract

Purpose of review: In recent years, there has been interest for the development of simplified diagnosis algorithms of dysbetalipoproteinemia (DBL) in order to avoid the complex testing associated with the Fredrickson criteria (reference method). The purpose of this review is to present recent advances in the field of DBL with a focus on screening and diagnosis.

Recent findings: Recently, two different multi-step algorithms for the diagnosis of DBL have been published and their performance has been compared to the Fredrickson criteria. Furthermore, a recent large study demonstrated that only a minority (38%) of DBL patients are carriers of the E2/E2 genotype and that these individuals presented a more severe phenotype.

Summary: The current literature supports the fact that the DBL phenotype is more heterogeneous and complex than previously thought. Indeed, DBL patients can present with either mild or more severe phenotypes that can be distinguished as multifactorial remnant cholesterol disease and genetic apolipoprotein B deficiency. Measurement of apolipoprotein B as well as APOE gene testing are both essential elements in the diagnosis of DBL.

PubMed Disclaimer

References

    1. Higgins V, Leiter LA, Delaney SR, Beriault DR. Validating the NIH LDL-C equation in a specialized lipid cohort: does it add up? Clin Biochem 2022; 99:60–68.
    1. Koopal C, Marais AD, Westerink J, Visseren FL. Autosomal dominant familial dysbetalipoproteinemia: a pathophysiological framework and practical approach to diagnosis and therapy. J Clin Lipidol 2017; 11:12.e1–23.e1.
    1. Heidemann BE, Wolters FJ, Kavousi M, et al. Adiposity and the development of dyslipidemia in APOE ε2 homozygous subjects: a longitudinal analysis in two population-based cohorts. Atherosclerosis 2021; 325:57–62.
    1. Paquette M, Bernard S, Paré G, Baass A. Triglycerides, hypertension, and smoking predict cardiovascular disease in dysbetalipoproteinemia. J Clin Lipidol 2020; 14:46–52.
    1. Balling M, Afzal S, Varbo A, et al. VLDL cholesterol accounts for one-half of the risk of myocardial infarction associated with apoB-containing lipoproteins. J Am Coll Cardiol 2020; 76:2725–2735.