High prevalence of Familial Hypercholesterolemia in Argentina: results of the first Detection Program

CORRAL, PABLO; LOPEZ, GRACIELA; CRISTALDI, ALEJANDRO; TUSEDO, JULIO; CACCIAGIÚ L; BERG GABRIELA; SCHREIER LE

Innsbruck

Congreso; 84 EAS Congress; 2016

European Atherosclerosis Society

Familial hypercholesterolemia (FH) is one the most common inherited diseases, however it is underdiagnosed and undertreated worldwide. In Argentina, the First Detection Program was launched in April 2015 in a district of Buenos Aires. Our aim is to show preliminary results of our experience. A record of 38033 subjects attended in the health system during 2012-2015, with lipid measurements, has been provided by the local Direction of Health. Cutoff values of 300 mg% for cholesterol and 190 mg% for LDL-cholesterol were established, thus1460 patients had at least one parameter above the cutoff. Patients were contacted and up to date 216 hypercholesterolemic patients (Female:139, Male:77; 20-73 years old) have been recruited, giving their informed consent for the study. Dutch Lipid Clinic Criteria (DLCC) scores were applied. As 90 out of the 216 patients were under hypolipidemic treatment, scores were corrected by LDL-chol values according to published recommendations. Complete lipid profile was assessed in non-fasting blood. Hepatic enzymes, TSH and creatinine were measured to exclude secondary causes (n=11). According to DLCC, 37 out of 216 patients presented definitive diagnosis (score>8) and 30 probable diagnosis (score:6-7), not homozygous FH patients were detected. Tendinous xanthomas were detected in 7 patients and corneal arch in 28 subjects under 40 years old. All patients received appropriate counseling and treatment. Genetic studies will provide more accurate prevalence, however, current data estimated that 1/152 subjects may present definitive diagnosis of FH according to DLCC. This frequency is significantly higher than expected.