Published online Apr 16, 2015. doi: 10.12998/wjcc.v3.i4.371
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
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.
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.