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Isolation and Analysis of Plasma Lipoproteins by Ultracentrifugation

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Dysbetalipoproteinemia: Two cases report and a diagnostic algorithm.

Anastazia Kei¹, George Miltiadous¹, Eleni Bairaktari¹

¹Anastazia Kei, Moses Elisaf, Department of Internal Medicine, University of Ioannina Medical School, 45110 Ioannina, Greece.

World Journal of Clinical Cases

|April 17, 2015

Summary

Familial dysbetalipoproteinemia, a rare genetic lipid disorder, presents diagnostic challenges. Early identification is crucial for assessing cardiovascular risk and enabling genetic counseling.

Keywords:

Chylomicronemia Dysbetalipoproteinemia Hyperlipoproteinemia type III Hypertriglyceridemia

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Area of Science:

Lipidology
Genetics
Cardiovascular Disease

Background:

Familial dysbetalipoproteinemia is a rare genetic dyslipidemia.
Characterized by elevated cholesterol and triglycerides due to remnant lipoproteins in individuals with apolipoprotein E2/E2 homozygosity.
Associated with increased risk of premature cardiovascular disease.

Observation:

Diagnostic work-up can be challenging.
Consider diagnosis in mixed dyslipidemia with low apolipoprotein B relative to total cholesterol or disparity between calculated and measured LDL cholesterol.
Other indices can aid diagnosis.

Findings:

Presents two phenotypically distinct cases of genotypically proven familial dysbetalipoproteinemia.
Includes a diagnostic algorithm for the disease.
Highlights diagnostic challenges and informative indices.

Implications:

Accurate diagnosis of familial dysbetalipoproteinemia is vital for correct cardiovascular risk assessment.
Facilitates appropriate genetic counseling for affected individuals and families.
A proposed diagnostic algorithm may simplify the identification process.