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.

journal_name

World J Clin Cases

authors

Kei A,Miltiadous G,Bairaktari E,Hadjivassiliou M,Cariolou M,Elisaf M

doi

10.12998/wjcc.v3.i4.371

subject

Has Abstract

pub_date

2015-04-16 00:00:00

pages

371-6

issue

4

issn

2307-8960

journal_volume

3

pub_type

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