Browsing by Author "Jannes, C.E."
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- Clinical and molecular aspects of familial hypercholesterolemia in Ibero-American countriesPublication . 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 NetworkBACKGROUND: 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.
- Composición genética de la Hipercolesterolemia Familiar en Argentina en relación a los países de la Red Iberoamericana de HFPublication . Bañares, V.G.; Alves, A.C.; Alonso, R.; Jannes, C.E.; Medeiros, A.M.; Corral, P.; DellOca, N.; Araujo, M.B.; Pereira, A.; Elikir, G.D.; Reyes, X.; Cuevas, A.; Vázquez Cárdenas, A.; Stoll, M.; Santos, R.; Mata, P.; Schreier, L.; Bourbon, MafaldaIntroducción: La Hipercolesterolemia Familiar (HF), de herencia codominante, lleva a la EC temprana debido a los niveles elevados de lipoproteínas de baja densidad (LDL) plasmáticas presentes desde el nacimiento. Funcionalmente el aclaramiento hepático de las LDL se ve disminuído. Se origina por mutaciones en los genes LDLR (94%), APOB (4%), PCSK9 (1%) generalmente y hay más de 1000 variantes patogénicas solo en el LDLR. Los países de iberoamerica (IBA) comparten orígenes y el estudio conjunto de las bases moleculares contribuirá al esclarecimiento de la relación fenotipo / genotipo y mejorará la prognosis de los pacientes, uno de los objetivos de la Red. En IBA se estiman 3 millones de HF que, detectados en forma temprana, podría prevenirse en ellos la EC.
- Molecular aspects of Homozygous Familial Hypercholesterolemia in Iberoamerican CountriesPublication . Alves, A.C.; Alonso, R.; Cuevas, A.; Medeiros, A.M.; Pereira, A.C.; Jannes, C.E.; Krieger, J.E.; Arroyo, R.; Schreier, L.; Corral, P.; Bañares, V.; Araujo, G.M.; Asenjo, S.; Stoll, M.; Dell'Oca, N.; Reyes, X.; Ressia, A.; Campo, R.; Merchan, A.; Magaña-Torres Teresa, M.; Vasques-Cardenas, A.; Mata, N.P.; Santos, R.D.; Bourbon, M.Homozygous Familial Hypercholesterolemia (HoFH) is a rare disorder, affecting 1 in 300,000 to 1,000,000 people in the general population. The Iberoamerican FH (IBAFH) network was constituted in 2013 with the main objectives to promote awareness and education on FH, and to improve and promote early diagnosis and treatment of the disorder in the network countries. In 2018, there are 8 countries (Argentina, Brazil, Chile, Colombia, Mexico, Portugal, Spain and Uruguay) belonging to the network representing 75% of region’s population. It is estimated that there are 600 to 1,800 HoFH in the Ibero-America, most of them not diagnosed and/or not treated adequately. The Iberoamerican community has an estimated population of 640 million inhabitants. The objective of this work is to describe molecular characteristics of HoFH diagnosis in Argentina, Brazil, Chile, Colombia, Mexico, Portugal, Spain, and Uruguay.
- Recommendations for LDLR variant interpretation by the ClinGen’s Familial Hypercholesterolemia Expert PanelPublication . Chora, J.R.; Iacocca, M.; Tichy, L.; Wand, H.; Kurtz, L.C.; Zimmermann, H.; Meredith, A.L.; Williams, M.; Humphries, S.E.; Hooper, A.J.; Brunham, L.; Pereira, A.C.; Chen, M.; Wang, J.; Trinder, M.; Jannes, C.E.; Chonis, J.; Kim, S.; Pesaran, T.; Johnston, T.; Carrie, A.; Leigh, S.; Hegele, R.A.; Sijbrands, E.; Freiberger, T.; Knowles, J.W.; Bourbon, M.Familial Hypercholesterolemia (FH): - Lipid metabolism autosomal dominant condition; - Elevated low-density lipoprotein cholesterol (LDL-C) and total cholesterol (TC) values since childhood → increased risk of atherosclerotic cardiovascular disease; - High heterozygote prevalence (1/250-1/500); Homozygous rare (1/ 300 000- 1/ 1 000 000); - Caused by pathogenic variants in LDLR (>90%), APOB (5- 10%) and PCSK9 (1-3%) genes; -Marked increase in FH variants submitted to ClinVar; -45% of variants were classified with more than one method and 466 variants submitted with potential clinical significance had conflicting or no classifications.