Familial Hypercholesterolemia: Update and Review

(E-pub Ahead of Print)

Author(s): Oscar Francisco Chacón Camacho*, Glustein Pozo Molina, Claudia Fabiola Méndez Catalá, Julia Reyes Reali, René Méndez Cruz, Juan Carlos Zenteno

Journal Name: Endocrine, Metabolic & Immune Disorders - Drug Targets
Formerly Current Drug Targets - Immune, Endocrine & Metabolic Disorders

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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.

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Article Details

(E-pub Ahead of Print)
DOI: 10.2174/1871530321666210208212148
Price: $95

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