Percorrer por autor "Alonso, Rodrigo"
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- Application of a Pilot Screening Program for Familial Hypercholesterolemia in a High-Complexity Hospital CenterPublication . Radojkovic, Claudia; Honorato, Paula; Portiño, René; Martínez, Catalina; Saez, Katia; Bourbon, Mafalda; Muñoz, Isabel; Alvarado, Cristóbal; Guzmán, Enrique; Bustos, Paulina; Alonso, Rodrigo; Sánchez, AndreaOne of the current challenges is the early identification of patients with Familial Hypercholesterolemia (FH) through clinical diagnosis and genetic analysis to initiate treatment and prevent the development of atherosclerotic disease. Aim: To describe the results of a pilot program for opportunistic screening of Familial Hypercholesterolemia index cases in a highly complex hospital laboratory. Materials and methods: Retrospective cross-sectional convenience recruitment study. Search for patients with clinical suspicion of FH was conducted by analyzing the lipid profile of users from the Las Higueras Hospital of Talcahuano, between 2019 and 2021. Patients were selected and stratified according to LDL-C concentrations using the Dutch Lipid Clinic Network (DLCN) Criteria. Patients with a DLCN score >6 were selected as candidates for genetic diagnosis. Results: 36,804 lipid profiles were obtained, of which 19,021 corresponded to a unique lipid profile per patient. After applying the exclusion criteria, 98 patients suspected of FH. According to the DLCN criteria, 5 patients were stratified with a definitive clinical diagnosis (DLCN ≥8) and 4 with a probable diagnosis of FH (DLCN 6-7). In 4 of the 6 patients who were contacted, 3 genetic variants associated with FH were identified. Conclusion: This work corresponds to the first report on the application of an FH screening program in a highly complex hospital center in Chile and allowed the definitive diagnosis of pediatric and adult patients with FH. These results demonstrate the importance of implementing an opportunistic screening program and performing genetic analysis for FH variants to a definitive diagnosis.
- Overview of the current status of familial hypercholesterolaemia care in over 60 countries - The EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)Publication . EAS Familial Hypercholesterolaemia Studies Collaboration; Vallejo-Vaz, Antonio J.; De Marco, Martina; Stevens, Christophe A.T.; Akram, Asif; Freiberger, Tomas; Hovingh, G. Kees; Kastelein, John J.P.; Mata, Pedro; Raal, Frederick J.; Santos, Raul D.; Soran, Handrean; Watts, Gerald F.; Abifadel, Marianne; Aguilar-Salinas, Carlos A.; Al-Khnifsawi, Mutaz; AlKindi, Fahad A.; Alnouri, Fahad; Alonso, Rodrigo; Al-Rasadi, Khalid; Al-Sarraf, Ahmad; Ashavaid, Tester F.; Binder, Christoph J.; Bogsrud, Martin P.; Bourbon, Mafalda; Bruckert, Eric; Chlebus, Krzysztof; Corral, Pablo; Descamps, Olivier; Durst, Ronen; Ezhov, Marat; Fras, Zlatko; Genest, Jacques; Groselj, Urh; Harada-Shiba, Mariko; Kayikcioglu, Meral; Lalic, Katarina; Lam, Carolyn S.P.; Latkovskis, Gustavs; Laufs, Ulrich; Liberopoulos, Evangelos; Lin, Jie; Maher, Vincent; Majano, Nelson; Marais, A. David; März, Winfried; Mirrakhimov, Erkin; Miserez, André R.; Mitchenko, Olena; Nawawi, Hapizah M.; Nordestgaard, Børge G.; Paragh, György; Petrulioniene, Zaneta; Pojskic, Belma; Postadzhiyan, Arman; Reda, Ashraf; Reiner, Željko; Sadoh, Wilson E.; Sahebkar, Amirhossein; Shehab, Abdullah; Shek, Aleksander B.; Stoll, Mario; Su, Ta-Chen; Subramaniam, Tavintharan; Susekov, Andrey V.; Symeonides, Phivos; Tilney, Myra; Tomlinson, Brian; Truong, Thanh-Huong; Tselepis, Alexandros D.; Tybjærg-Hansen, Anne; Vázquez-Cárdenas, Alejandra; Viigimaa, Margus; Vohnout, Branislav; Widén, Elisabeth; Yamashita, Shizuya; Banach, Maciej; Gaita, Dan; Jiang, Lixin; Nilsson, Lennart; Santos, Lourdes E.; Schunkert, Heribert; Tokgözoğlu, Lale; Car, Josip; Catapano, Alberico L.; Ray, Kausik K.; Hypercholesterolaemia Studies Collaboration (FHSC) InvestigatorsManagement of familial hypercholesterolaemia (FH) may vary across different settings due to factors related to population characteristics, practice, resources and/or policies. We conducted a survey among the worldwide network of EAS FHSC Lead Investigators to provide an overview of FH status in different countries.
- Overweight, Obesity, And Cardiovascular Disease In Heterozygous Familial Hypercholesterolaemia: The EAS FH Studies Collaboration RegistryPublication . Elshorbagy, Amany; Vallejo-Vaz, Antonio J.; Barkas, Fotios; Lyons, Alexander R.M.; Stevens, Christophe A.T.; Dharmayat, Kanika I.; Catapano, Alberico L.; Freiberger, Tomas; Hovingh, G. Kees; Mata, Pedro; Raal, Frederick J.; Santos, Raul D.; Soran, Handrean; Watts, Gerald F.; Abifadel, Marianne; Aguilar-Salinas, Carlos A.; Alhabib, Khalid F.; Alkhnifsawi, Mutaz; Almahmeed, Wael; Alnouri, Fahad; Alonso, Rodrigo; Al-Rasadi, Khalid; Al-Sarraf, Ahmad; Arca, Marcello; Ashavaid, Tester F.; Averna, Maurizio; Banach, Maciej; Becker, Marianne; Binder, Christoph J.; Bourbon, Mafalda; Brunham, Liam R.; Chlebus, Krzysztof; Corral, Pablo; Cruz, Diogo; Davletov, Kairat; Descamps, Olivier S.; Dwiputra, Bambang; Ezhov, Marat; Groselj, Urh; Harada-Shiba, Mariko; Holven, Kirsten B.; Humphries, Steve E.; Kayikcioglu, Meral; Khovidhunkit, Weerapan; Lalic, Katarina; Latkovskis, Gustavs; Laufs, Ulrich; Liberopoulos, Evangelos; Lima-Martinez, Marcos M.; Maher, Vincent; Marais, A David; März, Winfried; Mirrakhimov, Erkin; Miserez, André R.; Mitchenko, Olena; Nawawi, Hapizah; Nordestgaard, Børge G.; Panayiotou, Andrie G.; Paragh, György; Petrulioniene, Zaneta; Pojskic, Belma; Postadzhiyan, Arman; Reda, Ashraf; Reiner, Željko; Reyes, Ximena; Sadiq, Fouzia; Sadoh, Wilson Ehidiamen; Schunkert, Heribert; Shek, Aleksandr B.; Stroes, Erik; Su, Ta-Chen; Subramaniam, Tavintharan; Susekov, Andrey V.; Tilney, Myra; Tomlinson, Brian; Truong, Thanh Huong; Tselepis, Alexandros D.; Tybjærg-Hansen, Anne; Vázquez-Cárdenas, Alejandra; Viigimaa, Margus; Vohnout, Branislav; Yamashita, Shizuya; Ray, Kausik K.; EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)Background and aims: Overweight and obesity are modifiable risk factors for atherosclerotic cardiovascular disease (ASCVD) in the general population, but their prevalence in individuals with heterozygous familial hypercholesterolaemia (HeFH) and whether they confer additional risk of ASCVD independent of LDL cholesterol (LDL-C) remains unclear. Methods: Cross-sectional analysis was conducted in 35 540 patients with HeFH across 50 countries, in the EAS FH Studies Collaboration registry. Prevalence of World Health Organization-defined body mass index categories was investigated in adults (n = 29 265) and children/adolescents (n = 6275); and their association with prevalent ASCVD. Results: Globally, 52% of adults and 27% of children with HeFH were overweight or obese, with the highest prevalence noted in Northern Africa/Western Asia. A higher overweight/obesity prevalence was found in non-high-income vs. high-income countries. Median age at familial hypercholesterolaemia diagnosis in adults with obesity was 9 years older than in normal weight adults. Obesity was associated with a more atherogenic lipid profile independent of lipid-lowering medication. Prevalence of coronary artery disease increased progressively across body mass index categories in both children and adults. Compared with normal weight, obesity was associated with higher odds of coronary artery disease in children (odds ratio 9.28, 95% confidence interval 1.77-48.77, adjusted for age, sex, lipids, and lipid-lowering medication) and coronary artery disease and stroke in adults (odds ratio 2.35, 95% confidence interval 2.10-2.63 and odds ratio 1.65, 95% confidence interval 1.27-2.14, respectively), but less consistently with peripheral artery disease. Adjusting for diabetes, hypertension and smoking modestly attenuated the associations. Conclusions: Overweight and obesity are common in patients with HeFH and contribute to ASCVD risk from childhood, independent of LDL-C and lipid-lowering medication. Sustained body weight management is needed to reduce the risk of ASCVD in HeFH.
- Phenotypical, Clinical, and Molecular Aspects of Adults and Children With Homozygous Familial Hypercholesterolemia in IberoamericaPublication . Alves, Ana Catarina; Alonso, Rodrigo; Diaz-Diaz, José Luís; Medeiros, Ana Margarida; Jannes, Cinthia E.; Merchan, Alonso; Vasques-Cardenas, Norma A.; Cuevas, Ada; Chacra, Ana Paula; Krieger, Jose E.; Arroyo, Raquel; Arrieta, Francisco; Schreier, Laura; Corral, Pablo; Bañares, Virginia G.; Araujo, Maria B.; Bustos, Paula; Asenjo, Sylvia; Stoll, Mario; Dell'Oca, Nicolás; Reyes, Maria; Ressia, Andrés; Campo, Rafael; Magaña-Torres, Maria T; Metha, Roopa; Aguilar-Salinas, Carlos A; Ceballos-Macias, José J; Morales, Álvaro J Ruiz; Mata, Pedro; Bourbon, Mafalda; Santos, Raul DObjective: Characterize homozygous familial hypercholesterolemia (HoFH) individuals from Iberoamerica. Approach and Results: In a cross-sectional retrospective evaluation 134 individuals with a HoFH phenotype, 71 adults (age 39.3±15.8 years, 38.0% males), and 63 children (age 8.8±4.0 years, 50.8% males) were studied. Genetic characterization was available in 129 (96%). The majority (91%) were true homozygotes (true HoFH, n=79, 43.0% children, 46.8% males) or compound heterozygotes (compound heterozygous familial hypercholesterolemia, n=39, 51.3% children, 46.2% males) with putative pathogenic variants in the LDLR. True HoFH due to LDLR variants had higher total (P=0.015) and LDL (low-density lipoprotein)-cholesterol (P=0.008) compared with compound heterozygous familial hypercholesterolemia. Children with true HoFH (n=34) tended to be diagnosed earlier (P=0.051) and had a greater frequency of xanthomas (P=0.016) than those with compound heterozygous familial hypercholesterolemia (n=20). Previous major cardiovascular events were present in 25 (48%) of 52 children (missing information in 2 cases), and in 43 (67%) of 64 adults with LDLR variants. Children who are true HoFH had higher frequency of major cardiovascular events (P=0.02), coronary heart (P=0.013), and aortic/supra-aortic valve diseases (P=0.022) than compound heterozygous familial hypercholesterolemia. In adults, no differences were observed in major cardiovascular events according to type of LDLR variant. From 118 subjects with LDLR variants, 76 (64%) had 2 likely pathogenic or pathogenic variants. In 89 subjects with 2 LDLR variants, those with at least one null allele were younger (P=0.003) and had a greater frequency of major cardiovascular events (P=0.038) occurring at an earlier age (P=0.001). Conclusions: There was a high frequency of cardiovascular disease even in children. Phenotype and cardiovascular complications were heterogeneous and associated with the type of molecular defect.