Resumo

AGUILAR-SALINAS, Carlos; GOMEZ-DIAZ, Rita  e  TUSIE-LUNA, María Teresa. Fifty years studying hiperlipidemias: The case of familial combined hyperlipidemia. Invest. clín [online]. 2010, vol.51, n.2, pp.145-158. ISSN 0535-5133.

Familial combined hyperlipidemia (FCHL) is the most frequent primary dyslipidemia. Its manifestations include hypercholesterolemia, hypertriglyceridemia or the combination of both abnormalities. In spite of its high frequency, the proper diagnosis is rarely done. For this purpose, the measurement of a lipid profile is required in at least three first-degree relatives. A critical review of the current literature in this field is presented in this paper. Prospective studies have confirmed the atherogenicity of the disease. It is possible to identify the FCHL causal genes with the current methodology because it is an oligogenic disease. Based on the use of new technologies, several loci that regulate apolipoprotein B concentrations have been identified. In addition it was demostrated that variations of the activity or the expression of various nuclear factors (USF1, TCF7L2, HNF4alfa) have a major role in the pathophysiology of FCHL. These nuclear factors regulate the expression of multiple genes involved in the metabolism of lipids or carbohydrates.

Palavras-chave : Familial combined hyperlipidemia; apolipoprotein B; cholesterol; triglycerides; HDL cholesterol.

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