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Familial Hypercholesterolemia: Update and Review

Author(s):

Oscar Francisco Chacón Camacho*, Glustein Pozo Molina, Claudia Fabiola Méndez Catalá, Julia Reyes Reali, René Méndez Cruz and Juan Carlos Zenteno   Pages 1 - 14 ( 14 )

Abstract:


Knowledge of epidemiology, genetic etiopathogenesis, diagnostic criteria, and management of familial hypercholesterolemia have increased in the last two decades. Several population studies have shown that familial hypercholesterolemia is more frequent than previously thought, making this entity the most common metabolic disease with monogenic inheritence in the world. Identification of causal heterozygous pathogenic variants in LDLR, APOB, and PCSK9 genes have increased diagnostic accuracy of classical criteria (extreme hypercholesterolemia, personal / family history of premature coronary artery disease or other cardiovascular disease). Genetic screening has been recently introduced in many European countries to detect patients with familial hypercholesterolemia, mainly affected pediatric subjects, asymptomatic or those at the beggining of their disease, with the purpose of increasing surveillance and avoiding complications such as cardiovascular diseases. Cholesterol-lowering drugs should be started as soon as the diagnosis is made. Various combinations between drugs can be used when the goal is not achieved. New therapies, including small interference ribonucleic acids (siRNA) are being tested in different clinical trials.

Keywords:

Dyslipidemia, familial hypercholesterolemia, LDLR, acute myocardial infarction, xanthomas, NGS, mutation.

Affiliation:

Genetics Deparment, Institute of Ophthalmology “Conde de Valenciana, Mexico City, , Carrera de Médico Cirujano, Facultad de Estudios Superiores Iztacala, Universidad Nacional Autónoma de México, Tlalnepantla, , Carrera de Médico Cirujano, Facultad de Estudios Superiores Iztacala, Universidad Nacional Autónoma de México, Tlalnepantla, , Carrera de Médico Cirujano, Facultad de Estudios Superiores Iztacala, Universidad Nacional Autónoma de México, Tlalnepantla, , Carrera de Médico Cirujano, Facultad de Estudios Superiores Iztacala, Universidad Nacional Autónoma de México, Tlalnepantla, , Biochemistry Department, Faculty Medicine, National Autonomous University of Mexico, Mexico City



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