[Molecular diagnosis and combined lipid lowering therapy of heterozygous familial hypercholesterolemia. Report of one case].

Heterozygous familial hypercholesterolemia affects one every 400 individuals, is caused by mutations in the LDL receptor gene and is associated with premature coronary artery disease. Nowadays, LDL cholesterol can be efficiently reduced with the new therapies to reduce blood lipids. We report a female patient who consulted in 1975, when she was 46 years old, for severe hypercholesterolemia.

[Intensive cholesterol lowering therapy to reduce cardiovascular risk].

Primary and secondary prevention trials have clearly demonstrated that lowering serum cholesterol levels with statins reduces the incidence of cardiovascular events. Recent studies plus post hoc analysis of previous clinical trials show that risk reduction is proportional to the magnitude of LDL cholesterol lowering. Therefore, new recommendations of the National Cholesterol Education Program (USA) have defined a category of patients with very high cardiovascular risk, who should achieve serum LDL cholesterol levels below 70 mg/dl.