P6266Homozygous familial hypercholesterolemia: A study of 36 cases with phenotype of homozygous familiar hypercholesterolemia in Colombia

Homozygous familial hypercholesterolemia (Ho-FH) is a genetic disorder due to mutations in both alleles of LDLR or in other gens (ApoB, LDLRAP1 or PCSK9), resulting in elevated levels of LDL cholesterol and cardiovascular disease in very early ages. In Colombia the data available are scanty. Several data suggest that finding and treating this population promptly, could reduce mortality and improve their quality of life. Methods: Nationwide case series, to describe patients with homozygous familial hypercholesterolemia. Subjects with clinical suspect of Ho-HF were enrolled and genetic tests were made. In each subject, basal serum cholesterol, LDL, HDL and triglycerides, as well as transaminases were measured. All fatal and non-fatal events were collected, among which those related to a CV cause were identified, as stroke, carotid stenosis, aortic stenosis and coronary disease. Patients were classified for age, sex, location, type of gene mutation, genotype associated with statins improving, genotype of plasma levels of lipoprotein A, levels of LDL at the diagnostic and finally clinical features. Lipid inCode and Ferrer inCode were used for the diagnosis, which study 7 genes (LDLR, APOPB, PCSK9, EPOE, STAP1, LDLPARP1 and LIPA) involved in HoHF.