文章基本信息

标题：The panorama of familial hypercholesterolemia in Latin America: a systematic review
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作者：Roopa Mehta ; Rafael Zubirán ; Alexandro J. Martagón 等
期刊名称：JLR Papers In Press
印刷版ISSN：0022-2275
电子版ISSN：1539-7262
出版年度：2016
卷号：57
期号：12
页码：2115-2129
DOI：10.1194/jlr.R072231
语种：English
出版社：American Society for Biochemistry and Molecular Biology
摘要：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.
关键词：heterozygous familial hypercholesterolemia ; homozygous familial hypercholesterolemia ; autosomal recessive hypercholesterolemia