Resumen de Hipercolesterolemia familiar heterocigota: diagnóstico molecular y terapia combinada. Caso clínico

Antonio Arteaga Ll, Ada Cuevas M, Attilio Rigotti, Francisco González, Sergio Castillo, Pedro Mata L, Rodrigo Alonso K

• 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. In 2003, a sample of leukocyte DNA was obtained and the uncommon 1705 + 1G >A mutation of the LDL receptor gene was detected. No mutations in the apolipoprotein B gene were found. The patient was treated successfully with simvastatin 80 mg/day and ezetimibe 10 mg/day and LDL cholesterol levels were reduced below 200 mg/dl