title: Dysbetalipoproteinemia: Two cases report and a diagnostic algorithm.
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.
authors: Anastazia Kei, Moses Elisaf, Department of Internal Medicine, University of Ioannina Medical School, 45110 Ioannina, Greece.
authors: Anastazia
authors: A
authors: Kei
authors: Anastazia Kei, Moses Elisaf, Department of Internal Medicine, University of Ioannina Medical School, 45110 Ioannina, Greece.
authors: George
authors: G
authors: Miltiadous
authors: Anastazia Kei, Moses Elisaf, Department of Internal Medicine, University of Ioannina Medical School, 45110 Ioannina, Greece.
authors: Eleni
authors: E
authors: Bairaktari
authors: Anastazia Kei, Moses Elisaf, Department of Internal Medicine, University of Ioannina Medical School, 45110 Ioannina, Greece.
authors: Marilena
authors: M
authors: Hadjivassiliou
authors: Anastazia Kei, Moses Elisaf, Department of Internal Medicine, University of Ioannina Medical School, 45110 Ioannina, Greece.
authors: Marios
authors: M
authors: Cariolou
authors: Anastazia Kei, Moses Elisaf, Department of Internal Medicine, University of Ioannina Medical School, 45110 Ioannina, Greece.
authors: Moses
authors: M
authors: Elisaf
keywords: Chylomicronemia; Dysbetalipoproteinemia; Hyperlipoproteinemia type III; Hypertriglyceridemia