Comparative use of three different laboratory methods to investigate a paradigmatic case of severe genetic dysbetalipoproteinemia

BACKGROUND: Lipoprotein separation and analysis is critical for the classification of different atherogenic dyslipidemias. Several methods are used in clinical practice to assess lipoprotein profile. Yet, those may give different diagnostic outcomes, as no standardization scale is currently available; thus, no effective comparison is possible. Combining results from different techniques may grant a more detailed lipid profile analysis, providing a better overview of dyslipidemias. METHODS: We analysed the lipoprotein profile of a male adult patient and his relatives, using three different techniques for lipoprotein subfractions analysis: cellulose acetate electrophoresis (CAE), polyacrylamide tube gel electrophoresis (PGGE, Lipoprint) and size-exclusion chromatography (SEC). RESULTS: Diagnosis based on plasma lipid analysis resulted in hypertriglyceridemia (Triglycerides, TG, between 250 and 900 mg/dL), while CAE showed an extra band, compatible with an electrophoretic pattern of broad beta disease (Dysebtalipoproteinemia, phenotype III by Fredrickson Classification). In addition, Lipoprint revealed the presence of small dense LDL, and SEC, confirming the presence of sdLDL, and noticing the presence of beta-VLDL remnants. CONCLUSIONS: The combined information coming from the three methods granted us access to more detailed and distinguished information, allowing a more specific diagnosis and a better evaluation of a patient’s cardiovascular risk.