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

Article type: Research Article

Authors: Gaddi, Antonio V.^a | Giovannini, Marina^b | Cenni, Giovanna^c | Tempesta, Sergio^d | Pinto, Alessandro^e | Carnevali, Lucio^f | Capello, Fabio^{g; *}

Affiliations: [a] Health Lab, GTechnology Foundation, Modena, Italy and “TP Eurogenlab”, Bologna, Italy | [b] ‘GC Descovich’ Atherosclerosis and Metabolic Diseases Research Unit, Internal Medicine, Department of Aging and Kidney Diseases, Sant’Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy | [c] Clinical Analysis Laboratory “Caravelli”, Bologna, Italy | [d] Medical Genetics Laboratory “TP Eurogenlab”, Bologna, Italy | [e] Alma Mater Studiorum, University of Bologna, Italy | [f] Department of Clinical Medicine and Prevention, Geriatric Clinic, University of Milan-Bicocca and San Gerardo Hospital, Monza, Italy | [g] Departments of Paediatrics, AUSL della Romagna, Ospedale Morgagni-Pierantoni, Forlì, Italy

Correspondence: [*] Corresponding author: Fabio Capello, AUSL della Romagna, Ospedale Morgagni-Pierantoni, U.O Pediatria, 47121, Forlì, Italy. Tel.:+39 0543 731111; Fax:+39 0543 73; E-mail: [email protected].

Abstract: 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.

Keywords: Lipoproteins, LDL (low density lipoproteins), HDL (high density lipoproteins), cholesterol, triglycerides, dyslipidemias, acetate cellulose electrophoresis, polyacrylamide gel tube electrophoresis, size-exclusion chromatography

DOI: 10.3233/MNM-180268

Journal: Mediterranean Journal of Nutrition and Metabolism, vol. 12, no. 3, pp. 293-303, 2019