Browsing by Author "Mata, Pedro"

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    Molecular diagnosis and combined lipid lowering therapy of heterozygous familial hypercholesterolemia. Report of one case
    (SOC MEDICA SANTIAGO, 2007) Arteaga, Antonio; Cuevas, Ada; Rigotti, Attilio; Gonzalez, Francisco; Castillo, Sergio; Mata, Pedro; Alonso, Rodrigo
    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 hypercbolesterolemia. In 2003, a sample of leukocyte DNA was obtained and the uncommon 1705 + 1G > A mutation of the LDL receptorgene was detected. No mutations in the apolipoprotein B gene were,found. The patient was treated successfully with simvastatin SO mg/day and ezetimibe 10 mg/day and LDL cholesterol levels were reduced below 200 mg/dl.