Abstract

STOLL, Mario et al. Previniendo el infarto en el adulto joven: GENYCO, un registro nacional de hipercolesterolemia familiar. Rev.Urug.Cardiol. [online]. 2011, vol.26, n.1, pp.16-26. ISSN 1688-0420.

SUMMARY Familial hypercholesterolemia has been promoted internationally as an excellent model to demonstrate the benefit of prevention of coronary heart disease and early miocardial infarction in young adults, easily identifying a population group with high genetic risk, and using the molecular characterization of mutations in LDL receptor gene. Cardiologists in particular, should recognize these patients and family groups, and use the opportunity for an earlier and more individualized intervention. The GENYCO program (for Genes and Cholesterol) is intended to reverse the situation of insufficient diagnosis and inadequate treatment of a chronic disease that attacks young adults. In Uruguay we estimate between 5.000 and 7.000 FH affected patients. Pharmacological treatment of hypercholesterolemia with statins and other lipid-lowering drugs, based on knowledge of the molecular basis of this disease, produces a substantial reduction in risk of premature cardiovascular disease, postponed coronary artery bypass surgery 10 to 20 years and allows to achieve similar survival to the rest of the population. The pilot program, developed by the authors, identified 245 affected from 71 index cases with 18% of established coronary disease, 85% undiagnosed and untreated. This gives an average of 3.1 detections per index case by the family based cascade method. Molecular test was performed in 23 family groups, and identified 67 LDLR gene mutation carriers and 2 in ApoB100. We performed genetic and medical counseling. The tragedy of the death of young adults with coronary artery disease is reasonably preventable and avoidable.

Keywords :     HYPERCHOLESTEROLEMIA     PRIMARY PREVENTION     GENETICS     GENOMICS     DYSLIPIDEMIAS     HYPOLIPIDEMIC AGENTS.

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