JOSE EDUARDO KRIEGER
Projetos de Pesquisa
Unidades Organizacionais
Departamento de Cardio-Pneumologia, Faculdade de Medicina - Docente
Instituto do Coração, Hospital das Clínicas, Faculdade de Medicina
LIM/13 - Laboratório de Genética e Cardiologia Molecular, Hospital das Clínicas, Faculdade de Medicina - Líder
Instituto do Coração, Hospital das Clínicas, Faculdade de Medicina
LIM/13 - Laboratório de Genética e Cardiologia Molecular, Hospital das Clínicas, Faculdade de Medicina - Líder
2 resultados
Resultados de Busca
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- Clinical and molecular aspects of familial hypercholesterolemia in Ibero-American countries(2017) SANTOS, Raul D.; BOURBON, Mafalda; ALONSO, Rodrigo; CUEVAS, Ada; VASQUES-CARDENAS, Norma Alexandra; PEREIRA, Alexandre C.; VILLAMIZAR, Alonso M.; ALVES, Ana Catarina; MEDEIROS, Ana Margarida; JANNES, Cinthia E.; KRIEGER, Jose E.; SCHREIER, Laura; ISLA, Leopoldo Perez de; MAGANA-TORRES, Maria Teresa; STOLL, Mario; MATA, Nelva; OCA, Nicolas Dell; CORRAL, Pablo; ASENJO, Sylvia; BANARES, Virginia G.; REYES, Ximena; MATA, PedroBACKGROUND: 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.
- Pharmacological treatment with lipid-lowering agents after molecular identification of familial hypercholesterolemia: results from the Hipercol Brasil cohort(2022) SILVA, P. R. D. S.; JANNES, C. E.; OLIVEIRA, T. G. M.; KRIEGER, J. E.; SANTOS, R. D.; PEREIRA, A. C.Background: Familial hypercholesterolemia (FH) is an autosomal dominant disease characterized by the presence of high levels of total and low-density lipoprotein cholesterol (LDL-C). Statin treatment is recommended for all adults with FH. Objective: Here we have studied the main predictors of the use of lipid-lowering agents at one-year follow-up in a large cohort of FH patients. Methods: Open prospective cohort of individuals resident in São Paulo, Brazil who were enrolled in a FH cascade screening program. We used a multivariate logistic regression analysis to determine predictive variables for the non-adherence of lipid-lowering drugs. Results: A total of 1,360 HF participants were included. At the one-year follow-up (T1), the rates of lipid-lowering treatment were 92%, 76%, and 78% from the genetic positive proband (index cases, IC), genetic negative IC and genetic positive first-degree relatives, respectively. Receiving a positive genetic test for FH (OR: 4.85; CI 95%: 2.97 – 7.93, p value < 0.05), use of lipid-lowering treatment at T0 (OR: 5.01; CI 95%: 3.18 – 7.90, p value < 0.05) and age (OR: 1.04; CI 95%: 1.02 – 1.06) were independently associated with the use of a lipid-lowering drug at T1. Conclusion: Index cases with a positive genetic result increase their prevalence of lipid-lowering medication use. Positive relatives did not have the expected adherence; we could notice a significant increase in the prevalence of treatment starting after a positive genetic test. The independent predictors for lipid-lowering treatment were age, a positive genetic test and previous institution of treatment before the genetic test result. © 2022