Browsing by Author "Pessoa, Mario G."

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    High inherited risk predicts age-associated increases in fibrosis in patients with MASLD
    (2025) Díaz, Luis Antonio; Alazawi, William; Agrawal, Saaket; Arab, Juan Pablo; Arrese, Marco; Idalsoaga, Francisco; Barreyro, Fernando Javier; Gadano, Adrián; Marciano, Sebastián; Martínez Morales, Jorge; Villela Nogueira, Cristiane; Leite, Nathalie; Alves Couto, Claudia; Theodoro, Rafael; Dias Monteiro, Mísia Joyner de Sousa; Oliveira, Claudia P.; Pessoa, Mario G.; Reis Alvares-da-Silva, Mario; Madamba, Egbert; Bettencourt, Ricki; Richards, Lisa M.; Majithia, Amit R.; Khera, Amit V.; Loomba, Rohit; Ajmera, Veeral
    Background & AimsLimited data have prevented routine genetic testing from being integrated into clinical practice in metabolic dysfunction-associated steatotic liver disease (MASLD). We aimed to quantify the effect of genetic variants on changes in fibrosis severity per decade in MASLD.MethodsThis cross-sectional study included prospectively recruited adults with MASLD aged 18–70 who underwent magnetic resonance elastography (MRE) and genotyping for PNPLA3, TM6SF2, MBOAT7, GCKR, and HSD17B13. A genetic risk score (GRS) was calculated as the sum of established risk alleles in PNPLA3 minus protective variants in HSD17B13 (0=low risk, 1=high risk). We also estimated the polygenic risk score-hepatic fat content (PRS-HFC) and the adjusted version (PRS-5). The primary endpoint was the age-related change in liver stiffness measurement (LSM) on MRE by GRS. Findings were validated using an external cohort from Latin America.ResultsAmong 570 participants, the median age was 57 [49–64] years, 56.8% were women, and 34.2% were Hispanic. Median MRE was 2.4 [2.1–3.0] kPa, and 51% had high GRS. High GRS was independently associated with increased LSM (β=0.28 kPa, 95%CI:0.12–0.44, p=0.001) per 10-year age increase, while the low GRS group showed no significant difference. Similar findings were observed using PRS-HFC and PRS-5. PNPLA3 genotype alone also predicted higher LSM (C/G: β=0.32 kPa, 95%CI:0.02–0.61, p=0.034; G/G: β=0.87 kPa, 95%CI:0.52–1.22, p<0.0001) and G/G genotype was associated with significantly higher LSM by age 44, which was consistent in the validation population.ConclusionGRS, PRS-HFC, PRS-5, and PNPLA3 genotypes alone are associated with greater fibrosis per decade, resulting in divergent disease trajectories starting in midlife. Assessing genetic risk in MASLD will identify high-risk patients who require more frequent monitoring."
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    Implementation of a re-linkage to care strategy in patients with chronic hepatitis C who were lost to follow-up in Latin America
    (2023) Mendizabal, Manuel; Thompson, Marcos; Gonzalez-Ballerga, Esteban; Anders, Margarita; Castro-Narro, Graciela E.; Pessoa, Mario G.; Cheinquer, Hugo; Mezzano, Gabriel; Palazzo, Ana; Ridruejo, Ezequiel; Descalzi, Valeria; Velarde-Ruiz Velasco, Jose A.; Marciano, Sebastian; Munoz, Linda; Schinoni, Maria, I; Poniachik, Jaime; Perazzo, Rosalia; Cerda, Eira; Fuster, Francisco; Varon, Adriana; Ruiz Garcia, Sandro; Soza, Alejandro; Cabrera, Cecilia; Gomez-Aldana, Andres J.; de Maria Beltran, Flor; Gerona, Solange; Cocozzella, Daniel; Bessone, Fernando; Hernandez, Nelia; Alonso, Cristina; Ferreiro, Melina; Antinucci, Florencia; Torre, Aldo; Moutinho, Bruna D.; Coelho Borges, Silvia; Gomez, Fernando; Dolores Murga, Maria; Pinero, Federico; Sotera, Gisela F.; Ocampo, Jhonier A.; Cortes Mollinedo, Valeria A.; Simian, Daniela; Silva, Marcelo O.
    To achieve WHO's goal of eliminating hepatitis C virus (HCV), innovative strategies must be designed to diagnose and treat more patients. Therefore, we aimed to describe an implementation strategy to identify patients with HCV who were lost to follow-up (LTFU) and offer them re-linkage to HCV care. We conducted an implementation study utilizing a strategy to contact patients with HCV who were not under regular follow-up in 13 countries from Latin America. Patients with HCV were identified by the international classification of diseases (ICD-9/10) or equivalent. Medical records were then reviewed to confirm the diagnosis of chronic HCV infection defined by anti-HCV+ and detectable HCV-RNA. Identified patients who were not under follow-up by a liver specialist were contacted by telephone or email, and offered a medical reevaluation. A total of 10,364 patients were classified to have HCV. After reviewing their medical charts, 1349 (13%) had undetectable HCV-RNA or were wrongly coded. Overall, 9015 (86.9%) individuals were identified with chronic HCV infection. A total of 5096 (56.5%) patients were under routine HCV care and 3919 (43.5%) had been LTFU. We were able to contact 1617 (41.3%) of the 3919 patients who were LTFU at the primary medical institution, of which 427 (26.4%) were cured at a different institutions or were dead. Of the remaining patients, 906 (76.1%) were candidates for retrieval. In our cohort, about one out of four patients with chronic HCV who were LTFU were candidates to receive treatment. This strategy has the potential to be effective, accessible and significantly impacts on the HCV care cascade.
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    Inherited Genetic Risk of Liver Fibrosis in Lean Versus Nonlean Metabolic Dysfunction–Associated Steatotic Liver Disease (MASLD)
    (John Wiley & Sons Ltd., 2025) Tesfai, Kaleb; Díaz Piga, Luis Antonio; Arab, Juan Pablo; Arrese, Marco; Idalsoaga, Francisco; Ayares, Gustavo; Agrawal, Saaket; Barreyro, Fernando Javier; Gadano, Adrian; Marciano, Sebastián; Martínez Morales, Jorge; Villela‐Nogueira, Cristiane; Leite, Nathalie; Salles, Gil; Regina Cardoso, Claudia; Alves Couto, Claudia; Theodoro, Rafael; Monteiro. Mísia Joyner de Sousa Dias; Oliveira, Claudia P.; Pessoa, Mario G.; Alvares‐da‐Silva, Mario Reis; Huang, Daniel Q.; Madamba, Egbert; Singh, Seema; Lokanadham, Snigdha; Bettencourt, Ricki; Richards, Lisa M.; Khera, Amit V.; Loomba, Rohit; Ajmera, Veeral
    Introduction Previous studies have revealed conflicting results regarding liver fibrosis risk in lean metabolic dysfunction–associated steatotic liver disease (MASLD). We aimed to compare the risk of significant fibrosis in lean versus nonlean MASLD and identify fibrosis-associated factors in lean MASLD. Methods The study was a cross-sectional analysis of prospectively enrolled adults with MASLD. Individuals with lean MASLD were age- and sex-matched with nonlean MASLD. Fibrosis assessment included vibration-controlled transient elastography, magnetic resonance elastography and liver biopsy. A genetic risk score (GRS), summating the effect alleles of PNPLA3 and TM6SF2 minus the protective HSD17B13 genotype, was estimated to consider inherited genetic risk across BMI categories. Results were validated in an external Latin American cohort.ResultsThe mean ( SD) age of 312 included participants with MASLD was 58.3  11.6 years and 69.2% were female. 44 (14.1%) individuals were lean, 90 (28.9%) were overweight, 90 (28.9%) had class I obesity and 88 (28.1%) had class II or greater obesity. The prevalence of significant fibrosis was 27.3% in lean and 31.1% in nonlean (p = 0.653). Individuals with a high GRS had a higher prevalence of significant fibrosis compared to patients with low GRS (36.5% vs. 25.2%, p = 0.043) and the prevalence of significant fibrosis was similar in lean and nonlean patients with high GRS (31.3% vs. 37.1%, p = 0.645). The Latin American cohort exhibited similar results. Conclusions The prevalence of significant fibrosis and the effect of GRS were similar in lean and nonlean MASLD, highlighting that lean MASLD patients may have a comparable risk to overweight and obese MASLD.