Raul D Santos1, Mafalda Bourbon2, Rodrigo Alonso3, Ada Cuevas4, Norma Alexandra Vasques-Cardenas5, Alexandre C Pereira6, Alonso Merchan7, Ana Catarina Alves2, Ana Margarida Medeiros2, Cinthia E Jannes6, Jose E Krieger6, Laura Schreier8, Leopoldo Perez de Isla9, Maria Teresa Magaña-Torres10, Mario Stoll11, Nelva Mata12, Nicolas Dell Oca11, Pablo Corral13, Sylvia Asenjo14, Virginia G Bañares15, Ximena Reyes11, Pedro Mata12. 1. 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. 2. 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. 3. Departamento de Nutrición, Clínica Las Condes, Santiago, Chile; Fundación Hipercolesterolemia Familiar, Madrid, Spain. 4. Departamento de Nutrición, Clínica Las Condes, Santiago, Chile. 5. Facultad de Medicina Zapopan, Universidad Autónoma de Guadalajara, Guadalajara, Mexico. 6. Laboratory of Genetics and Molecular Cardiology, Heart Institute (InCor), University of São Paulo Medical School Hospital, São Paulo, Brazil. 7. Fundación Clínica SHAIO, Bogota, Colombia. 8. 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. 9. Fundación Hipercolesterolemia Familiar, Madrid, Spain; Department of Cardiology, Hospital Clinico San Carlos, IDISSC, Madrid, Spain. 10. Instituto Mexicano del Seguro Social, Centro de Investigacion Biomedica del Occidente, Guadalajara, Mexico. 11. Programa GENYCO, Laboratorio de Genetica Molecular, Comision Honoraria de Salud Cardiovascular, Montevideo, Uruguay. 12. Fundación Hipercolesterolemia Familiar, Madrid, Spain. 13. Departamento Investigación, Facultad de Medicina, Universidad FASTA, Buenos Aires, Argentina. 14. Universidad de Concepción, Concepción, Chile. 15. Centro Nacional de Genética Médica, Administración Nacional de Laboratorios e Institutos de Salud -ANLIS-"Dr Carlos Malbrán", Ciudad Autónoma de Buenos Aires, Argentina.
Abstract
BACKGROUND: 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. OBJECTIVE: To describe clinical, molecular, and organizational characteristics of FH diagnosis in Argentina, Brazil, Chile, Colombia, Mexico, Portugal, Spain, and Uruguay. METHODS: Descriptive analysis of country data related to FH cascade screening, molecular diagnosis, clinical practice guidelines, and patient organization presence in Ibero-America. RESULTS: 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. CONCLUSIONS: Ibero-American countries share similar mutations and gaps in FH care.
BACKGROUND: 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. OBJECTIVE: To describe clinical, molecular, and organizational characteristics of FH diagnosis in Argentina, Brazil, Chile, Colombia, Mexico, Portugal, Spain, and Uruguay. METHODS: Descriptive analysis of country data related to FH cascade screening, molecular diagnosis, clinical practice guidelines, and patient organization presence in Ibero-America. RESULTS: 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 FHpatients 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. CONCLUSIONS: Ibero-American countries share similar mutations and gaps in FH care.
Authors: Abhimanyu Garg; Sergio Fazio; P Barton Duell; Alexis Baass; Chandrasekhar Udata; Tenshang Joh; Tom Riel; Marina Sirota; Danielle Dettling; Hong Liang; Pamela D Garzone; Barry Gumbiner; Hong Wan Journal: J Endocr Soc Date: 2019-11-29
Authors: Pãmela Rodrigues de Souza Silva; Cinthia Elim Jannes; Theo G M Oliveira; Luz Marina Gómez Gómez; José E Krieger; Raul D Santos; Alexandre Costa Pereira Journal: Arq Bras Cardiol Date: 2018-08-23 Impact factor: 2.000