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Practical guidelines for familial combined hyperlipidemia diagnosis: an up-date

Authors Antonio Gaddi, AFG Cicero, FO Odoo, A Poli A, R Paoletti

Published 15 January 2008 Volume 2007:3(6) Pages 877—886

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Antonio Gaddi1, AFG Cicero1, FO Odoo2, A Poli A3, R Paoletti4

On behalf of the Atherosclerosis and Metabolic Diseases Study Group 1Center for Metabolic diseases and Atherosclerosis, University of Bologna, Italy; 2Creighton University Medical Center, Omaha, NE, USA; 3Nutrition Foundation of Italy, Milan, Italy; 4Department of Pharmacological Sciences, University of Milan, Milan, Italy

Abstract: Familial combined hyperlidemia (FCH) is a common metabolic disorder characterized by: (a) increase in cholesterolemia and/or triglyceridemia in at least two members of the same family, (b) intra-individual and intrafamilial variability of the lipid phenotype, and (c) increased risk of premature coronary heart disease (CHD). FCH is very frequent and is one of the most common genetic hyperlipidemias in the general population (prevalence estimated: 0.5%–2.0%), being the most frequent in patients affected by CHD (10%) and among acute myocardial infarction survivors aged less than 60 (11.3%). This percentage increases to 40% when all the myocardial infarction survivors are considered without age limits. However, because of the peculiar variability of laboratory parameters, and because of the frequent overlapping with the features of metabolic syndrome, this serious disease is often not recognized and treated. The aim of this review is to define the main characteristics of the disease in order to simplify its detection and early treatment by all physicians by mean of practical guidelines.

Keywords: familial combined hyperlipidemia, guidelines, diagnosis, management

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