Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.18/4816
Título: Clinical and molecular aspects of familial hypercholesterolemia in Ibero-American countries
Autor: Santos, R.D.
Bourbon, M.
Alonso, R.
Cuevas, A.
Vasques-Cardenas, N.A.
Pereira, A.C.
Merchan, A.
Alves, A.C.
Medeiros, A.M.
Jannes, C.E.
Krieger, J.E.
Schreier, L.
Perez de Isla, L.
Magaña-Torres, M.T.
Stoll, M.
Mata, N.
Dell Oca, N.
Corral, P.
Asenjo, S.
Bañares, V.G.
Reyes, X.
Mata, P.
Ibero-American Familial Hypercholesterolemia Network
Palavras-chave: Familial Hypercholesterolemia
Atherosclerosis
Cholesterol
Cascade Screening
Molecular Diagnosis
Ibero-American Countries
Doenças Cardio e Cérebro-vasculares
Data: Jan-2017
Editora: Elsevier
Citação: J Clin Lipidol. 2017 Jan - Feb;11(1):160-166. doi: 10.1016/j.jacl.2016.11.004. Epub 2016 Nov 23.
Resumo: 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 Spanishspeaking 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.
Peer review: yes
URI: http://hdl.handle.net/10400.18/4816
DOI: 10.1016/j.jacl.2016.11.004
ISSN: 1933-2874
Versão do Editor: http://www.sciencedirect.com/science/article/pii/S1933287416304196
Aparece nas colecções:DPSPDNT - Artigos em revistas internacionais

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