Case Report
Copyright ©The Author(s) 2015. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Apr 16, 2015; 3(4): 371-376
Published online Apr 16, 2015. doi: 10.12998/wjcc.v3.i4.371
Dysbetalipoproteinemia: Two cases report and a diagnostic algorithm
Anastazia Kei, George Miltiadous, Eleni Bairaktari, Marilena Hadjivassiliou, Marios Cariolou, Moses Elisaf
Anastazia Kei, Moses Elisaf, Department of Internal Medicine, University of Ioannina Medical School, 45110 Ioannina, Greece
George Miltiadous, Marilena Hadjivassiliou, Marios Cariolou, Department of Cardiovascular Genetics and the Laboratory of Forensic Genetics, Cyprus Institute of Neurology and Genetics, 2408 Nicosia, Cyprus
Eleni Bairaktari, Department of Biochemistry, University of Ioannina Medical School, 45110 Ioannina, Greece
Author contributions: All authors contributed to this work.
Ethics approval: The Ethics Committee of the University Hospital of Ioannina approved the case report.
Informed consent: Both patients of our case report gave their written informed consent.
Conflict-of-interest: None stated.
Open-Access: This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Correspondence to: Dr. Moses Elisaf, MD, FRSH, FASA, FISA, Professor of Internal Medicine, University of Ioannina Medical School, Stavrou Niarchou avenue, University Campus, 45110 Ioannina, Greece. egepi@cc.uoi.gr
Telephone: +30-26-51007516 Fax: +30-26-51007016
Received: October 14, 2014
Peer-review started: October 14, 2014
First decision: November 27, 2014
Revised: January 7, 2015
Accepted: January 18, 2015
Article in press: January 20, 2015
Published online: April 16, 2015
Processing time: 181 Days and 13.6 Hours
Abstract

Dysbetalipoproteinemia is a rare familial dyslipidemia characterized by approximately equally elevated serum cholesterol and triglyceride levels due to accumulated remnant lipoproteins in apolipoprotein E2/E2 homozygotes. It is associated with an increased risk for premature cardiovascular disease. Thus, making a diagnosis of dysbetalipoproteinemia aids in assessing cardiovascular risk correctly and allows for genetic counseling. However, the diagnostic work-up can be challenging. Diagnosis of dysbetalipoproteinemia should be considered in patients mixed dyslipidemia when the apolipoprotein B concentration is relatively low in relation to the total cholesterol concentration or when there is significant disparity between the calculated low density lipoprotein (LDL) and directly measured LDL cholesterol concentrations. Other indices are also informative in the diagnostic process. We present herein two phenotypically different cases (a 44-year-old man with severe hypertriglyceridemia and a 49-year-old woman with mixed dyslipidemia) of genotypically proven familial dysbetalipoproteinemia and a diagnostic algorithm of the disease.

Keywords: Dysbetalipoproteinemia; Chylomicronemia; Hyperlipoproteinemia type III; Hypertriglyceridemia

Core tip: Dysbetalipoproteinemia is associated with an increased risk for premature cardiovascular disease and its diagnosis may be challenging since its phenotype may significantly vary when specific environmental, hormonal and genetic factors that affect triglyceride (TG) metabolism co-exist. An algorithm with a number of dysbetalipoproteinemia indices may be helpful for the diagnosis of the disease and roughly equally elevated levels of both total cholesterol (TC) and TG and a low apolipoprotein B to TC ratio seem to comprise the two most helpful indices.