title: Clinical and molecular aspects of familial hypercholesterolemia in Ibero-American countries.
abstract: There is little information about familial hypercholesterolemia (FH) epidemiology and care in Ibero-American countries. The Ibero-American FH network aims at reducing the gap on diagnosis and treatment of this disease in the region.
  
  
  
  To describe clinical, molecular, and organizational characteristics of FH diagnosis in Argentina, Brazil, Chile, Colombia, Mexico, Portugal, Spain, and Uruguay.
  
  
  
  Descriptive analysis of country data related to FH cascade screening, molecular diagnosis, clinical practice guidelines, and patient organization presence in Ibero-America.
  
  
  
  From a conservative estimation of an FH prevalence of 1 of 500 individuals, there should be 1.2 million heterozygous FH individuals in Ibero-America and roughly 27,400 were diagnosed so far. Only Spain, Brazil, Portugal, and Uruguay have active cascade screening programs. The prevalence of cardiovascular disease ranged from 10% to 42% in member countries, and the highest molecular identification rates are seen in Spain, 8.3%, followed by Portugal, 3.8%, and Uruguay with 2.5%. In the 3 countries with more FH patients identified (Spain, Portugal, and Brazil) between 10 and 15 mutations are responsible for 30% to 47% of all FH cases. Spain and Portugal share 5 of the 10 most common mutations (4 in low density lipoprotein receptor [LDLR] and the APOB3527). Spain and Spanish-speaking Latin American countries share 6 of the most common LDLR mutations and the APOB3527. LDL apheresis is available only in Spain and Portugal and not all countries have specific FH diagnostic and treatment guidelines as well as patient organizations.
  
  
  
  Ibero-American countries share similar mutations and gaps in FH care.
authors.affiliation: Lipid Clinic Heart Institute (InCor), University of Sao Paulo Medical School Hospital, Sao Paulo, Brazil; Preventive Medicine Centre and Cardiology Program, Hospital Israelita Albert Einstein, Sao Paulo, Brazil. Electronic address: rdsf@uol.com.br.
authors.forename: Raul D
authors.initials: RD
authors.lastname: Santos
authors.affiliation: Departamento de Promoção da Saúde e Doenças Não Transmissíveis, Unidade I&D, Grupo de Investigação Cardiovascular, Instituto Nacional de Saúde Doutor Ricardo Jorge, Lisboa, Portugal; University of Lisboa, Faculty of Sciences, BioISI-Biosystems & Integrative Sciences Institute, Lisboa, Portugal.
authors.forename: Mafalda
authors.initials: M
authors.lastname: Bourbon
authors.affiliation: Departamento de Nutrición, Clínica Las Condes, Santiago, Chile; Fundación Hipercolesterolemia Familiar, Madrid, Spain.
authors.forename: Rodrigo
authors.initials: R
authors.lastname: Alonso
authors.affiliation: Departamento de Nutrición, Clínica Las Condes, Santiago, Chile.
authors.forename: Ada
authors.initials: A
authors.lastname: Cuevas
authors.affiliation: Facultad de Medicina Zapopan, Universidad Autónoma de Guadalajara, Guadalajara, Mexico.
authors.forename: Norma Alexandra
authors.initials: NA
authors.lastname: Vasques-Cardenas
authors.affiliation: Laboratory of Genetics and Molecular Cardiology, Heart Institute (InCor), University of São Paulo Medical School Hospital, São Paulo, Brazil.
authors.forename: Alexandre C
authors.initials: AC
authors.lastname: Pereira
authors.affiliation: Fundación Clínica SHAIO, Bogota, Colombia.
authors.forename: Alonso
authors.initials: A
authors.lastname: Merchan
authors.affiliation: Departamento de Promoção da Saúde e Doenças Não Transmissíveis, Unidade I&D, Grupo de Investigação Cardiovascular, Instituto Nacional de Saúde Doutor Ricardo Jorge, Lisboa, Portugal; University of Lisboa, Faculty of Sciences, BioISI-Biosystems & Integrative Sciences Institute, Lisboa, Portugal.
authors.forename: Ana Catarina
authors.initials: AC
authors.lastname: Alves
authors.affiliation: Departamento de Promoção da Saúde e Doenças Não Transmissíveis, Unidade I&D, Grupo de Investigação Cardiovascular, Instituto Nacional de Saúde Doutor Ricardo Jorge, Lisboa, Portugal; University of Lisboa, Faculty of Sciences, BioISI-Biosystems & Integrative Sciences Institute, Lisboa, Portugal.
authors.forename: Ana Margarida
authors.initials: AM
authors.lastname: Medeiros
authors.affiliation: Laboratory of Genetics and Molecular Cardiology, Heart Institute (InCor), University of São Paulo Medical School Hospital, São Paulo, Brazil.
authors.forename: Cinthia E
authors.initials: CE
authors.lastname: Jannes
authors.affiliation: Laboratory of Genetics and Molecular Cardiology, Heart Institute (InCor), University of São Paulo Medical School Hospital, São Paulo, Brazil.
authors.forename: Jose E
authors.initials: JE
authors.lastname: Krieger
authors.affiliation: Facultad de Farmacia y Bioquímica, Departamento de Bioquímica Clínica, Laboratorio de Lípidos y Aterosclerosis, Universidad de Buenos Aires, Buenos Aires, Argentina; Universidad de Buenos Aires, Instituto de Fisiopatologia y Bioquímica Clínica, INFIBIOC. Buenos Aires, Argentina.
authors.forename: Laura
authors.initials: L
authors.lastname: Schreier
authors.affiliation: Fundación Hipercolesterolemia Familiar, Madrid, Spain; Department of Cardiology, Hospital Clinico San Carlos, IDISSC, Madrid, Spain.
authors.forename: Leopoldo
authors.initials: L
authors.lastname: Perez de Isla
authors.affiliation: Instituto Mexicano del Seguro Social, Centro de Investigacion Biomedica del Occidente, Guadalajara, Mexico.
authors.forename: Maria Teresa
authors.initials: MT
authors.lastname: Magaña-Torres
authors.affiliation: Programa GENYCO, Laboratorio de Genetica Molecular, Comision Honoraria de Salud Cardiovascular, Montevideo, Uruguay.
authors.forename: Mario
authors.initials: M
authors.lastname: Stoll
authors.affiliation: Fundación Hipercolesterolemia Familiar, Madrid, Spain.
authors.forename: Nelva
authors.initials: N
authors.lastname: Mata
authors.affiliation: Programa GENYCO, Laboratorio de Genetica Molecular, Comision Honoraria de Salud Cardiovascular, Montevideo, Uruguay.
authors.forename: Nicolas
authors.initials: N
authors.lastname: Dell Oca
authors.affiliation: Departamento Investigación, Facultad de Medicina, Universidad FASTA, Buenos Aires, Argentina.
authors.forename: Pablo
authors.initials: P
authors.lastname: Corral
authors.affiliation: Universidad de Concepción, Concepción, Chile.
authors.forename: Sylvia
authors.initials: S
authors.lastname: Asenjo
authors.affiliation: Centro Nacional de Genética Médica, Administración Nacional de Laboratorios e Institutos de Salud -ANLIS-"Dr Carlos Malbrán", Ciudad Autónoma de Buenos Aires, Argentina.
authors.forename: Virginia G
authors.initials: VG
authors.lastname: Bañares
authors.affiliation: Programa GENYCO, Laboratorio de Genetica Molecular, Comision Honoraria de Salud Cardiovascular, Montevideo, Uruguay.
authors.forename: Ximena
authors.initials: X
authors.lastname: Reyes
authors.affiliation: Fundación Hipercolesterolemia Familiar, Madrid, Spain.
authors.forename: Pedro
authors.initials: P
authors.lastname: Mata
mesh_terms: D002318:Cardiovascular Diseases / Q000150:complications; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000150:complications / Q000453:epidemiology*; D011174:Portugal / Q000453:epidemiology; D013020:South America / Q000453:epidemiology; D013030:Spain / Q000453:epidemiology
keywords: Atherosclerosis; Cascade screening; Cholesterol; Familial hypercholesterolemia; Molecular diagnosis