title: The panorama of familial hypercholesterolemia in Latin America: a systematic review.
abstract: The burden caused by familial hypercholesterolemia (FH) varies among countries and ethnic groups. The prevalence and characteristics of FH in Latin American (LA) countries is largely unknown. We present a systematic review (following the PRISMA statement) of FH in LA countries. The epidemiology, genetics, screening, management, and unique challenges encountered in these countries are discussed. Published reports discussing FH in Hispanic or LA groups was considered for analysis. Thirty studies were included representing 10 countries. The bulk of the data was generated in Brazil and Mexico. Few countries have registries and there was little commonality in FH mutations between LA countries. LDL receptor mutations predominate; APOB and PCSK9 mutations are rare. No mutation was found in an FH gene in nearly 50% of cases. In addition, some country-specific mutations have been reported. Scant information exists regarding models of care, cascade screening, cost, treatment effectiveness, morbidity, and mortality. In conclusion, FH is largely underdiagnosed and undertreated in the LA region. The genetic admixture with indigenous populations, producing mestizo's groups, may influence the mutational findings in Latin America. Potential opportunities to close gaps in knowledge and health care are identified.
authors: Departamento de Endocrinologia y Metabolismo, Instituto Nacional de Ciencias Médicas y Nutrición "Salvador Zubirán", Mexico City, Mexico.
authors: Roopa
authors: R
authors: Mehta
authors: Departamento de Endocrinologia y Metabolismo, Instituto Nacional de Ciencias Médicas y Nutrición "Salvador Zubirán", Mexico City, Mexico.
authors: Rafael
authors: R
authors: Zubirán
authors: Escuela Nacional de Medicina, Tecnológico de Monterrey, Monterrey, Mexico.
authors: Alexandro J
authors: AJ
authors: Martagón
authors: Facultad de Medicina, Universidad Autónoma de Guadalajara, Zapopan, Mexico.
authors: Alejandra
authors: A
authors: Vazquez-Cárdenas
authors: Departamento de Endocrinologia y Metabolismo, Instituto Nacional de Ciencias Médicas y Nutrición "Salvador Zubirán", Mexico City, Mexico; Unidad de Biología Molecular y Medicina Genómica Instituto de Investigaciones Biomédicas, Universidad Nacional Autónoma de México, Mexico City, Mexico.
authors: Yayoi
authors: Y
authors: Segura-Kato
authors: Departamento de Endocrinologia y Metabolismo, Instituto Nacional de Ciencias Médicas y Nutrición "Salvador Zubirán", Mexico City, Mexico; Unidad de Biología Molecular y Medicina Genómica Instituto de Investigaciones Biomédicas, Universidad Nacional Autónoma de México, Mexico City, Mexico.
authors: María Teresa
authors: MT
authors: Tusié-Luna
authors: Departamento de Endocrinologia y Metabolismo, Instituto Nacional de Ciencias Médicas y Nutrición "Salvador Zubirán", Mexico City, Mexico. Electronic address: caguilarsalinas@yahoo.com.
authors: Carlos A
authors: CA
authors: Aguilar-Salinas
mesh_terms: D001055:Apolipoproteins B / Q000235:genetics; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000453:epidemiology* / Q000235:genetics / Q000628:therapy; D007843:Latin America / Q000453:epidemiology; D009154:Mutation; D011973:Receptors, LDL / Q000235:genetics; D012307:Risk Factors
chemical_list: D001055:Apolipoproteins B; C573412:LDLR protein, human; D011973:Receptors, LDL
keywords: autosomal recessive hypercholesterolemia; heterozygous familial hypercholesterolemia; homozygous familial hypercholesterolemia