La importancia de la genética en el estudio de la hipertrigliceridemia / The importance of genetics in the study of hypertriglyceridemia

La hipertrigliceridemia engloba un conjunto de trastornos lipídicos comunes en la práctica clínica, generalmente definidos como una concentración superior a 150mg/dL en ayunas. Existen diversas clasificaciones de la gravedad de la hipertrigliceridemia en función de sus valores séricos, considerándose por norma general moderada cuando los niveles son inferiores a 500mg/dL y severa cuando son mayores de 1.000mg/dL. Su importancia radica en su asociación con otras alteraciones del perfil lipídico, contribuyendo al aumento del riesgo cardiovascular y de pancreatitis aguda, fundamentalmente con concentraciones superiores a 500mg/dL.(AU)

Hypertriglyceridemia encompasses a set of lipid disorders common in clinical practice, generally defined as a fasting concentration above 150mg/dL. There are various classifications of the severity of hypertriglyceridaemia based on serum values, with levels generally considered moderate when below 500mg/dL and severe when above 1000mg/dL. Its importance lies in its association with other alterations in the lipid profile, contributing to increased cardiovascular risk and increased risk of acute pancreatitis, mainly with concentrations above 500mg/dL.(AU)

[The importance of genetics in the study of hypertriglyceridemia]. / La importancia de la genética en el estudio de la hipertrigliceridemia.

Hypertriglyceridemia encompasses a set of lipid disorders common in clinical practice, generally defined as a fasting concentration above 150mg/dL. There are various classifications of the severity of hypertriglyceridaemia based on serum values, with levels generally considered moderate when below 500mg/dL and severe when above 1000mg/dL. Its importance lies in its association with other alterations in the lipid profile, contributing to increased cardiovascular risk and increased risk of acute pancreatitis, mainly with concentrations above 500mg/dL.

Influence of enlarged waist circumference and hypertriglyceridemia in the severity of acute pancreatitis: A retrospective study / Influencia del aumento de la circunferencia de la cintura y la hipertrigliceridemia en la gravedad de la pancreatitis aguda: un estudio retrospectivo

Introduction: Acute pancreatitis is a frequent inflammatory gastrointestinal disorder with high mortality rates in severe forms. An early evaluation of its severity is key to identify high-risk patients. This study assessed the influence of waist circumference together with hypertriglyceridemia on the severity of acute pancreatitis. Methods: A retrospective study was performed, which included patients admitted with acute pancreatitis from March 2014 to March 2021. Patients were classified into four phenotype groups according to their waist circumference and triglyceride levels: normal waist circumference and normal triglycerides; normal waist circumference and elevated triglycerides; enlarged waist circumference and normal triglycerides; and enlarged waist circumference and triglycerides, namely hypertriglyceridemic waist (HTGW) phenotype. Clinical outcomes were compared among the groups. Results: 407 patients were included. Systemic inflammatory response syndrome (SIRS) and intensive care unit admission were most frequent among patients in the HTGW phenotype group, at 44.9% and 8.2%, respectively. The incidence of local complications was higher in the normal waist circumference with elevated triglycerides group (27%). On multivariable analysis, an enlarged waist circumference was related to an increase of 4% and 2% in the likelihood of developing organ failure and SIRS, respectively. Hypertriglyceridemia was an independent risk factor for both organ failure and local complications. Conclusions: HTGW phenotype was significant related to developing of SIRS. It seems that an enlarged waist circumference has a greater role than hypertriglyceridemia in the development of SIRS. Obesity and hypertriglyceridemia were both independent risk factors for organ failure. Patients with hypertriglyceridemia were more likely to develop local complications. (AU)

Introducción: La pancreatitis aguda es una patología frecuente con altas tasas de mortalidad en sus formas graves. Este estudio evaluó la influencia de la circunferencia de la cintura (CC) junto con la hipertrigliceridemia en la gravedad de la pancreatitis aguda. Métodos: Se realizó un estudio retrospectivo que incluyó pacientes con pancreatitis aguda desde 2014 hasta 2021. Los pacientes se clasificaron en cuatro grupos fenotípicos según su CC y los niveles de triglicéridos: CC normal y triglicéridos normales, CC normal y triglicéridos elevados, CC aumentada y triglicéridos normales, y CC aumentada y triglicéridos elevados, es decir, el fenotipo cintura hipertrigliceridémica (HTGW). Resultados: Se incluyeron 407 pacientes. El síndrome de respuesta inflamatoria sistémica (SIRS) y la admisión a la unidad de cuidados intensivos fueron más frecuentes entre los pacientes con fenotipo HTGW, en 44,9 y 8,2%, respectivamente. La incidencia de complicaciones locales fue mayor en el grupo de CC normal con triglicéridos elevados (27%). En el análisis multivariable, una CC aumentada se relacionó con un aumento de 4 y 2% en la probabilidad de desarrollar fallo orgánico y SIRS, respectivamente. La hipertrigliceridemia fue un factor de riesgo tanto para el fallo orgánico como para las complicaciones locales. Conclusiones: El fenotipo HTGW se relacionó con el desarrollo de SIRS. Parece que una CC aumentada tiene un papel más importante que la hipertrigliceridemia en el desarrollo de SIRS. La obesidad y la hipertrigliceridemia fueron factores de riesgo independientes para el fallo orgánico. Los pacientes con hipertrigliceridemia tenían más probabilidades de desarrollar complicaciones locales. (AU)

Tendencia del programa de intervención en DemoMinga, como estrategia para mejorar las dislipidemias y glucemia en la población Norma Luisa, Minga Guazú / Trend of the DemoMinga intervention program as a strategy to improve dyslipidemia and glycemia in the Norma Luisa population, Minga Guazú

Antecedentes: Las enfermedades no transmisibles siguen siendo un problema creciente en el mundo, sobre todo en los países de mediano y bajo ingresos. Los programas de intervención comunitaria se enfocan en su disminución mediante cambios en estilos de vida más saludables. Objetivos: Analizar la tendencia del programa de intervención en actividad física y nutrición, como estrategia para mejorar las dislipidemias y glucemia en los participantes del proyecto DemoMinga. Materiales y métodos: Estudio con enfoque cuantitativo. Diseño de investigación acción participativa, de carácter longitudinal, prospectivo. La población estuvo constituida por los participantes del Proyecto DemoMinga. Se determinó en cada participante: colesterol total, triglicéridos y glucemia en ayunas. Las muestras fueron procesadas en el Centro de Investigaciones Médicas de la FACISA-UNE. Se determinaron indicadores de tendencia central (mediana) de cada una de las variables. Resultados: Hubo mayor participación del sexo femenino, con predominio de personas con menos de 45 años. Las mediciones químicas arrojaron una tendencia de disminución a partir del quinto año de intervención, con talleres de cocina saludable incluyendo uso de aceite alto oleico, y actividad física. Sin embargo, la prueba no arrojó diferencias significativas de las mediciones entre la línea de base y el corte a los 6 años. Conclusión: El estudio resalta la importancia de los programas de intervención mediante terapias integrales para la promoción y prevención de las enfermedades cardiometabólicas a largo plazo.

Background: Non-communicable diseases remain a growing problem worldwide, especially in middle and low-income countries. Community intervention programs are focused on reducing their prevalence through promoting healthier lifestyle changes. Objectives: To analyze the trend of the physical activity and nutrition intervention program as a strategy to improve dyslipidemia and glycemia among participants of the DemoMinga project. Materials and methods: This study employed a quantitative approach with a participatory action research design, characterized as longitudinal and prospective. The population consisted of participants from the DemoMinga Project. For each participant, total cholesterol, triglycerides, and fasting glycemia were measured. Samples were processed at the Medical Research Center of FACISA-UNE. Indicators of central tendency (median) were determined for each of the variables. Results: There was a higher participation of females, with a predominance of individuals under the age of 45. Chemical measurements showed a decreasing trend starting from the fifth year of intervention, involving healthy cooking workshops that included the use of high oleic oil and physical activity. However, the test did not yield significant differences in measurements between the baseline and the 6-year cutoff. Conclusion: The study highlights the significance of intervention programs using comprehensive therapies for the long-term promotion and prevention of cardiometabolic diseases.

Tendencia del programa de intervención en DemoMinga, como estrategia para mejorar las dislipidemias y glucemia en la población Norma Luisa, Minga Guazú

Antecedentes: Las enfermedades no transmisibles siguen siendo un problema creciente en el mundo, sobre todo en los países de mediano y bajo ingresos. Los programas de intervención comunitaria se enfocan en su disminución mediante cambios en estilos de vida más saludables. Objetivos: Analizar la tendencia del programa de intervención en actividad física y nutrición, como estrategia para mejorar las dislipidemias y glucemia en los participantes del proyecto DemoMinga. Materiales y métodos: Estudio con enfoque cuantitativo. Diseño de investigación acción participativa, de carácter longitudinal, prospectivo. La población estuvo constituida por los participantes del Proyecto DemoMinga. Se determinó en cada participante: colesterol total, triglicéridos y glucemia en ayunas. Las muestras fueron procesadas en el Centro de Investigaciones Médicas de la FACISA-UNE. Se determinaron indicadores de tendencia central (mediana) de cada una de las variables. Resultados: Hubo mayor participación del sexo femenino, con predominio de personas con menos de 45 años. Las mediciones químicas arrojaron una tendencia de disminución a partir del quinto año de intervención, con talleres de cocina saludable incluyendo uso de aceite alto oleico, y actividad física. Sin embargo, la prueba no arrojó diferencias significativas de las mediciones entre la línea de base y el corte a los 6 años. Conclusión: El estudio resalta la importancia de los programas de intervención mediante terapias integrales para la promoción y prevención de las enfermedades cardiometabólicas a largo plazo.

Background: Non-communicable diseases remain a growing problem worldwide, especially in middle and low-income countries. Community intervention programs are focused on reducing their prevalence through promoting healthier lifestyle changes. Objectives: To analyze the trend of the physical activity and nutrition intervention program as a strategy to improve dyslipidemia and glycemia among participants of the DemoMinga project. Materials and methods: This study employed a quantitative approach with a participatory action research design, characterized as longitudinal and prospective. The population consisted of participants from the DemoMinga Project. For each participant, total cholesterol, triglycerides, and fasting glycemia were measured. Samples were processed at the Medical Research Center of FACISA-UNE. Indicators of central tendency (median) were determined for each of the variables. Results: There was a higher participation of females, with a predominance of individuals under the age of 45. Chemical measurements showed a decreasing trend starting from the fifth year of intervention, involving healthy cooking workshops that included the use of high oleic oil and physical activity. However, the test did not yield significant differences in measurements between the baseline and the 6-year cutoff. Conclusion: The study highlights the significance of intervention programs using comprehensive therapies for the long-term promotion and prevention of cardiometabolic diseases.

Recomendaciones nutricionales en la prevención y tratamiento de la dislipemia aterogénica. Grupo de Trabajo Dislipemia Aterogénica, Sociedad Española de Arteriosclerosis / Nutritional recommendations in the prevention and treatment of atherogenic dyslipidemia

La incorporación de una dieta saludable, ejercicio físico regular junto a la supresión del hábito tabáquico son las primeras medidas para reducir el riesgo cardiovascular en los pacientes con dislipemia aterogénica. En estas personas se debe mejorar la calidad nutricional de su alimentación, sustituyendo los alimentos con mayor efecto aterogénico, por otros de efecto más saludable. Hay una sólida evidencia de que los patrones alimentarios de base vegetal, bajos en ácidos grasos saturados, colesterol y sodio, con un alto contenido en fibra, potasio y ácidos grasos insaturados, son beneficiosos y reducen la expresión de los factores de riesgo cardiovascular. Este documento se centra en el papel que juega la nutrición en la prevención y tratamiento de la dislipemia aterogénica, aportando las evidencias actuales que sirvan de herramienta a los profesionales de la salud en su manejo clínico. Para facilitar su lectura dichas recomendaciones se expondrán en un formato de tablas amigable, jerarquizando por diferentes niveles de evidencia.(AU)

The incorporation of a healthy diet, regular physical exercise and smoking cessation are the initial measures to reduce cardiovascular risk in patients with atherogenic dyslipidemia. In these patients, the nutritional quality of their diet should be improved, replacing foods with a greater atherogenic effect for others with a healthier effect. There is strong evidence that plant-based dietary patterns, low in saturated fatty acids, cholesterol and sodium, with a high content of fiber, potassium and unsaturated fatty acids, are beneficial and reduce the expression of cardiovascular risk factors. This document focuses on the role of nutrition in the prevention and treatment of atherogenic dyslipidemia, providing current evidence to serve as a tool for health professionals in its clinical management. To facilitate the reading of these recommendations, they are presented in a user-friendly table format, with a hierarchy of different levels of evidence.(AU)

Hipertrigliceridemia grave en Argentina: prevalencia y características clínicas / Severe Hypertriglyceridemia in Argentina: Prevalence and Clinical Characteristics

RESUMEN Introducción : La hipertrigliceridemia grave (HTGG) es un desorden metabólico con múltiples causas e implicancias tera péuticas. Se desconocen hasta la fecha las características clínicas, la prevalencia y sus posibles causas en nuestra población. Objetivo : estimar la prevalencia, describir las características clínicas y causas subyacentes de la HTGG en un hospital de tercer nivel del municipio de General Pueyrredón. Materia y métodos : Estudio descriptivo y observacional realizado con pacientes ambulatorios e internados de un hospital provincial. Se incluyeron pacientes adultos con triglicéridos (TG) mayores que 885 mg/dL (10 mmol/L) evaluados desde enero de 2018 a diciembre de 2021. Se extrajeron sus historias clínicas y, luego, se los contactó para obtener medidas antro pométricas, variables sociodemográficas, antecedentes personales y familiares, causas secundarias de hipertrigliceridemia y el tratamiento recibido. Resultados : Se analizaron 16 029 muestras; 46 presentaron HTGG, lo que representa una prevalencia total del 0,28% (IC 95% 0,20-0,40%) (IC 95% 0,20-0,40%); se incluyeron 19 participantes en el análisis. La edad media fue de 48,47 años (DE ±16); el 84,2% de ellos eran hombres. La mediana de triglicéridos fue 1821 mg/dL (rango intercuartílico 917-7000 mg/dL); 17 participantes (84,97%) presentaban hipercolesterolemia (colesterol total mayor que 200 mg/dL). Casi el 50% refirió consumo de alcohol, el 55% presentaba obesidad y el 68% diabetes tipo II. Solo 9 participantes se encontraban en tratamiento, 4 con fibratos y 5 con estatinas. Conclusión : se encontró una prevalencia del 0,28%, más alta que la esperada y reportada en series previas. Por otro lado, se destaca la subutilización de medicación para el tratamiento de esta dislipidemia grave.

ABSTRACT Background : Severe hypertriglyceridemia (SHTG) is a metabolic disorder with multiple origins and management implications. Prevalence, clinical characteristics, and its possible causes are unknown in Argentina. Objective : The aim of this study was to estimate the prevalence and describe the clinical characteristics and underlying SHTG causes in a third level hospital in the municipality of General Pueyrredón. Methods : An observational, descriptive study was performed using an electronic database from a provincial Hospital. It included adult patients with triglyceride (TG) levels above 885 mg/dL (10 mmol/L) evaluated from January 2018 to December 2021. Medical records were collected, and patients were then contacted to obtain anthropometric measurements, sociodemographic variables, personal and family history, secondary causes of hypertriglyceridemia, and treatment received. Results : Among 16 029 patients analyzed, 46 presented SHTG, representing a total prevalence of 0.28% (95% CI 0.20-0.40%). Finally, 19 participants with mean age 48.47±16 years and 84.2% men were included in the analysis. Median TG level was 1821 mg/dL (interquartile range 917-7000 mg/dL), and 17 participants (84.97%) had hypercholesterolemia (total cholesterol >200 mg/dL). Almost 50% reported alcohol consumption, 55% were obese and 68% had type II diabetes. Nine participants were under pharmacological treatment, 4 with fibrates and 5 with statins. Conclusion : A prevalence of 0.28% SHTG was found, higher than that reported in other series. Another finding was the underuse of medication for this severe dyslipidemia.

Association of rs662799 and rs5070 genetic polymorphisms with hypertriglyceridemia and atherogenic dyslipidemia in pediatric patients in Southeast Mexico / Asociación de los polimorfismos genéticos rs662799 y rs5070 con hipertrigliceridemia y dislipidemia aterogénica en pacientes pediátricos del sureste de México

Background and aims: Triglycerides are the initiators of the metabolic changes that lead to atherogenic dyslipidemia (AD). The APOA5 and APOA1 genes are involved in the response and metabolism of serum lipids and lipoproteins, where single nucleotide polymorphisms (SNP) rs662799 (promoter region) and rs5070 (intronic region) have been associated with the susceptibility to dyslipidemia. Until now, few studies evaluate the association of these polymorphisms with the presentation of hypertriglyceridemia and AD among Mexican children. Therefore, the objective was to determine the association between rs662799 and rs5070 with hypertriglyceridemia and AD in a pediatric population of southeastern Mexico. Materials and methods: A case–control analysis was performed including 268 infants aged 2–16 years, anthropometric, clinical variables, and serum lipid profiles were analyzed. DNA was extracted from blood samples and genotyping of polymorphisms was executed with the TaqMan SNP genotyping assay. Allele and genotypic frequencies were calculated. For genetic association analysis, logistic regression models were fitted according to models of inheritance. Results: The SNP rs662799 (C) was significantly associated with hypertriglyceridemia in the overdominant model (OR=3.89, p=0.001) and AD in the dominant model (OR=4.01, p=0.001). The SNP rs5070 (T) has a protective effect against hypertriglyceridemia in the additive risk model (OR=0.68, p=0.03). Conclusion: Polymorphism rs662799 was significantly associated with cases of hypertriglyceridemia and AD in minors in southeastern Mexico. On the other hand, rs5070 polymorphism was not associated with cases of hypertriglyceridemia or AD.(AU)

Antecedentes y objetivos: Los triglicéridos son los iniciadores de los cambios metabólicos que conducen a la dislipidemia aterogénica (DA). Los genes APOA5 y APOA1 están implicados en la respuesta y metabolismo de lípidos séricos y lipoproteínas, donde los polimorfismos de nucleótido único (SNP) rs662799 (región promotora) y rs5070 (región intrónica) se han asociado con la susceptibilidad a la dislipidemia. Hasta ahora, pocos estudios evalúan la relación de estos polimorfismos con la presentación de hipertrigliceridemia y DA entre los niños mexicanos. Por lo tanto, el objetivo fue determinar la asociación entre rs662799 y rs5070 con hipertrigliceridemia y DA en una población pediátrica del sureste de México. Materiales y métodos: Se realizó un análisis de casos y controles con 268 niños de 2 a 16 años, se analizaron variables antropométricas, clínicas y perfiles de lípidos séricos. Se extrajo ADN de muestras de sangre y se realizó genotipado de polimorfismos con el ensayo de genotipado TaqMan SNP. Se calcularon las frecuencias alélicas y genotípicas. Para el análisis de asociación genética, los modelos de regresión logística se ajustaron según los modelos de herencia. Resultados: El SNP rs662799 se asoció significativamente con hipertrigliceridemia en el modelo sobredosis (OR=3,89, p=0,001) y DA en el modelo dominante (OR=4,01, p=0,001). El SNP rs5070 tiene un efecto protector contra la hipertrigliceridemia en el modelo de riesgo aditivo (OR=0,68, p=0,03). Conclusión: El polimorfismo rs662799 se asoció significativamente con casos de hipertrigliceridemia y DA en menores del sureste de México. Por otro lado, el polimorfismo rs5070 no se asoció con casos de hipertrigliceridemia o DA en esta población.(AU)

Volanesorsén, esperanza terapéutica para el síndrome de quilomicronemia familiar / Volanesorsén, therapeutic hope for family chylimicronemia syndrome

Objective: To reduce severe hypertriglyceridaemia and episodes of pancreatitis in patients with familial chylomicronemia syndrome (FCHS), in whom the response to diet and triglyceride (TG) lowering treatment has not been sufficient. Method: A 46-year-old woman diagnosed with genetically confirmed FFCS, with heterozygous presence of two variants and very severe elevation of triglycerides (≥2000 mg/dL), multiple admissions for acute pancreatitis since the age of 19, with associated side effects such as pancreatoprive Diabetes Mellitus with need for insulin and severe hepatic steatosis with grade I fibrosis diagnosed by liver biopsy. Given the intolerance to fibrates and insufficient response to diet and high doses of ω-3 fatty acids, we started treatment with Volanesorsen. Result: After 6 admissions for acute pancreatitis from January to April 2020, treatment with Volanesorsen was started on 7 August. Platelets at the start of treatment were 283x103/mm3 and triglycerides 1878 mg/dL. Platelet monitoring was performed every 2 weeks and at all times the figure remained >140x103/mm3. The treatment was well tolerated and after three months, the targets for continuing Volanesorsen were reached, reducing TG by more than 25% and reaching 624 mg/dL with platelets in the normal range. Conclusion: Volanesorsen is indicated as an adjunct to diet in adult patients with genetically confirmed FQS at high risk of pancreatitis, in whom the response to diet and triglyceride-lowering treatment has not been sufficient. (AU)

Objetivo: Reducción de la hipertrigliceridemia severa y episodios de pancreatitis en pacientes con síndrome de quilomicronemia familiar (SQF), en quienes la respuesta a la dieta y al tratamiento de reducción de triglicéridos (TG) no ha sido suficiente. Material y método: Mujer de 46 años diagnosticada de SQF confirmado genéticamente, con presencia en heterocigosis de dos variantes y con elevación muy grave de triglicéridos (≥2000 mg/dL), múltiples ingresos por pancreatitis agudas desde los 19 años, con efectos colaterales asociados como Diabetes Mellitus pancreatopriva con necesidad de insulina y esteatosis hepática severa con fibrosis grado I diagnosticada por biopsia hepática. Ante la intolerancia a fibratos e insuficiente respuesta a la dieta y altas dosis de ácidos grasos ω-3, iniciamos tratamiento con Volanesorsén. Resultado: Tras 6 ingresos por pancreatitis aguda desde enero hasta abril de 2020, el 7 de agosto inicia tratamiento con Volanesorsén. Plaquetas al inicio del tratamiento de 283x103/mm3 y triglicéridos 1878 mg/dL. Se realizó una monitorización plaquetaria cada 2 semanas y en todo momento la cifra se mantuvo >140x103/mm3 . El tratamiento fue bien tolerado y tras tres meses, se alcanzan los objetivos para poder continuar con Volanesorsén, reduciendo los TG más del 25% y alcanzando 624 mg/dL con plaquetas en rango de la normalidad. Conclusión: Volanesorsén está indicado como complemento a la dieta en pacientes adultos con SQF confirmado genéticamente y con riesgo alto de pancreatitis, en quienes la respuesta a la dieta y al tratamiento de reducción de triglicéridos no ha sido suficiente. (AU)

Influence of enlarged waist circumference and hypertriglyceridemia in the severity of acute pancreatitis: A retrospective study.

INTRODUCTION: Acute pancreatitis is a frequent inflammatory gastrointestinal disorder with high mortality rates in severe forms. An early evaluation of its severity is key to identify high-risk patients. This study assessed the influence of waist circumference together with hypertriglyceridemia on the severity of acute pancreatitis. METHODS: A retrospective study was performed, which included patients admitted with acute pancreatitis from March 2014 to March 2021. Patients were classified into four phenotype groups according to their waist circumference and triglyceride levels: normal waist circumference and normal triglycerides; normal waist circumference and elevated triglycerides; enlarged waist circumference and normal triglycerides; and enlarged waist circumference and triglycerides, namely hypertriglyceridemic waist (HTGW) phenotype. Clinical outcomes were compared among the groups. RESULTS: 407 patients were included. Systemic inflammatory response syndrome (SIRS) and intensive care unit admission were most frequent among patients in the HTGW phenotype group, at 44.9% and 8.2%, respectively. The incidence of local complications was higher in the normal waist circumference with elevated triglycerides group (27%). On multivariable analysis, an enlarged waist circumference was related to an increase of 4% and 2% in the likelihood of developing organ failure and SIRS, respectively. Hypertriglyceridemia was an independent risk factor for both organ failure and local complications. CONCLUSIONS: HTGW phenotype was significant related to developing of SIRS. It seems that an enlarged waist circumference has a greater role than hypertriglyceridemia in the development of SIRS. Obesity and hypertriglyceridemia were both independent risk factors for organ failure. Patients with hypertriglyceridemia were more likely to develop local complications.

Association of rs662799 and rs5070 genetic polymorphisms with hypertriglyceridemia and atherogenic dyslipidemia in pediatric patients in Southeast Mexico.

BACKGROUND AND AIMS: Triglycerides are the initiators of the metabolic changes that lead to atherogenic dyslipidemia (AD). The APOA5 and APOA1 genes are involved in the response and metabolism of serum lipids and lipoproteins, where single nucleotide polymorphisms (SNP) rs662799 (promoter region) and rs5070 (intronic region) have been associated with the susceptibility to dyslipidemia. Until now, few studies evaluate the association of these polymorphisms with the presentation of hypertriglyceridemia and AD among Mexican children. Therefore, the objective was to determine the association between rs662799 and rs5070 with hypertriglyceridemia and AD in a pediatric population of southeastern Mexico. MATERIALS AND METHODS: A case-control analysis was performed including 268 infants aged 2-16 years, anthropometric, clinical variables, and serum lipid profiles were analyzed. DNA was extracted from blood samples and genotyping of polymorphisms was executed with the TaqMan SNP genotyping assay. Allele and genotypic frequencies were calculated. For genetic association analysis, logistic regression models were fitted according to models of inheritance. RESULTS: The SNP rs662799 (C) was significantly associated with hypertriglyceridemia in the overdominant model (OR=3.89, p=0.001) and AD in the dominant model (OR=4.01, p=0.001). The SNP rs5070 (T) has a protective effect against hypertriglyceridemia in the additive risk model (OR=0.68, p=0.03). CONCLUSION: Polymorphism rs662799 was significantly associated with cases of hypertriglyceridemia and AD in minors in southeastern Mexico. On the other hand, rs5070 polymorphism was not associated with cases of hypertriglyceridemia or AD.

Treatment of hypertriglyceridaemia with icosapent ethyl in patients with high/very high cardiovascular risk. Consensus document of the Sociedad Española de Cardiología [Spanish Society of Cardiology] and the Sociedad Española de Diabetes [Spanish Diabetes Society].

The Working Groups of Cardiovascular Pharmacotherapy of the Sociedad Española de Cardiología and Cardiovascular Disease of the Sociedad Española de Diabetes have prepared a consensus document on the treatment of hypertriglyceridaemia in patients with high/very-high-cardiovascular risk with icosapent ethyl, a highly purified and stable eicosapentaenoic acid ethyl ester. This document is necessary since there are differences among the three main omega-3 fatty acids and there is large-scale clinical evidence with icosapent ethyl that demonstrates that in addition to its efficacy in lowering triglyceridaemia, it reduces the risk of cardiovascular events in both patients with atherosclerotic cardiovascular disease and in those with type 2 diabetes, with a good safety profile. The number needed to treat to avoid a major cardiovascular event is analysed, comparing it with other pivotal studies of pharmacological intervention in cardiovascular prevention, and an estimate of the Spanish population likely to be treated with ethyl icosapent is carried out. These recommendations are of interest to all clinicians who manage patients with lipid metabolism disorders, cardiovascular disease and diabetes.

Nutritional recommendations in the prevention and treatment of atherogenic dyslipidemia. / Recomendaciones nutricionales en la prevención y tratamiento de la dislipemia aterogénica. Grupo de Trabajo Dislipemia Aterogénica, Sociedad Española de Arteriosclerosis.

The incorporation of a healthy diet, regular physical exercise and smoking cessation are the initial measures to reduce cardiovascular risk in patients with atherogenic dyslipidemia. In these patients, the nutritional quality of their diet should be improved, replacing foods with a greater atherogenic effect for others with a healthier effect. There is strong evidence that plant-based dietary patterns, low in saturated fatty acids, cholesterol and sodium, with a high content of fiber, potassium and unsaturated fatty acids, are beneficial and reduce the expression of cardiovascular risk factors. This document focuses on the role of nutrition in the prevention and treatment of atherogenic dyslipidemia, providing current evidence to serve as a tool for health professionals in its clinical management. To facilitate the reading of these recommendations, they are presented in a user-friendly table format, with a hierarchy of different levels of evidence.

Pancreatitis aguda por hipertrigliceridemia severa, caracterización en un hospital terciario / Acute pancreatitis due to severe hypertriglyceridemia, characterization in a tertiary hospital

La hipertrigliceridemia severa es una de las principales causas etiológicas de la pancreatitis aguda, donde la literatura internacional la posiciona como la tercera causa. Sus causas gatillantes, comorbilidades, severidad y evolución son importantes de conocer para evitar futuros episodios. En Chile, a nuestro entender, no tenemos literatura sobre esta asociación, por lo que presentamos datos de un hospital terciario, destacando 15 casos de pancreatitis aguda en 5 años de estudio, casi la mitad de ellos con antecedentes previos de hipertrigliceridemia, un porcentaje importante de los casos con cuadros graves y con complicaciones intrahospitalarias y que la diabetes mellitus tipo 2 fue la principal condición asociada a la hipertrigliceridemia severa.

Severe hypertriglyceridaemia is one of the main aetiological causes of acute pancreatitis, with international literature ranking it as the third leading cause. Its triggering causes, comorbidities, severity and evolution are important to know in order to avoid future episodes. In Chile, to our knowledge, we have no literature on this association, so we present data from a tertiary hospital, highlighting 15 cases of acute pancreatitis in 5 years of study, almost half of them with a previous history of hypertriglyceridaemia, a significant percentage of cases with severe symptoms and in-hospital complications, and that type 2 diabetes mellitus was the main condition associated with severe hypertriglyceridaemia.

Prevalencia de síndrome metabólico en adolescentes escolarizados del Departamento Central en el año 2021

Introducción : El Síndrome Metabólico (SM) es una entidad clínica que se manifiesta por obesidad central, dislipidemia, hiperglicemia y/o hipertensión arterial y se relaciona con el desarrollo de Diabetes Mellitus tipo 2 y enfermedades cardiovasculares. Objetivo : Determinar la prevalencia del SM en adolescentes escolarizados del Departamento Central en el 2021 y evaluar los factores de riesgo relacionados. Materiales y Métodos: Estudio descriptivo con componente analítico. Ingresaron 279 adolescentes de 10 a 16 años de 6 escuelas elegidas aleatoriamente. Se realizó una encuesta sobre estilos de vida, prácticas alimentarias, antecedentes familiares y perinatales. Se realizó medición de peso, talla, circunferencia de cintura (CC), glicemia, perfil lipídico y presión arterial. Para el diagnóstico de SM se utilizó los criterios de Cook. Aprobado por el Comité de Ética del IICS y del Hospital de Clínicas. Para el análisis se utilizaron tablas de frecuencias, mediana y Prueba del Chi cuadrado para razón de prevalencias (RP) con nivel de significancia p p90 36%. La prevalencia de SM fue del 10,7 %. La CC >p90 con RP de 31,4 (7,6-128), y la hipertrigliceridemia con RP de 46,8(14,8-147,7), fueron los componentes preponderantes de SM. El peso elevado al nacer y no realizar actividad física, fueron identificados como factores de riesgo significativo. Conclusiones: La prevalencia de SM fue 10,7%, se relacionó con mayor peso al nacimiento, obesidad y sedentarismo.

Introduction: Metabolic Syndrome (MS) is a clinical entity that is manifested by central obesity, dyslipidemia, hyperglycemia and/or arterial hypertension and is related to the development of Type 2 Diabetes Mellitus and cardiovascular diseases. Objective: To determine the prevalence of MS in adolescents enrolled in school in the Central Department in 2021 and to evaluate their related risk factors. Materials and Methods: This was a descriptive study with an analytical component. 279 adolescents aged 10 to 16 years old from 6 randomly chosen schools were included. A survey on lifestyles, eating practices, family and perinatal history was performed. Weight, height, waist circumference (WC), glycemia, lipid profile, and blood pressure were measured. Cook's criteria were used for the diagnosis of MS. The study was approved by the Ethics Committee of the IICS and the University Hospital. For data analysis, tables of frequencies, median and Chi-square test were used for the prevalence ratio (PR) with a significance level of p p90 in 36%. The prevalence of MS was 10.7%. WC >p90 with a PR of 31.4 (7.6-128), and hypertriglyceridemia with a PR of 46.8 (14.8-147.7), were the predominant components of MS. High birth weight and physical inactivity were identified as significant risk factors. Conclusions: The prevalence of MS was 10.7%, it was related to higher birth weight, obesity and sedentary lifestyle.

Síndrome de quilomicronemia familiar: primer caso reportado en Ecuador / Familial chylomicronemia syndrome: The first case reported in Ecuador

El síndrome de quilomicronemia familiar (SQF) es una entidad genética de herencia autosómica recesiva. Las mutaciones en genes (como APOC2, APOAV, LMF-1, GPIHBP-1) que codifican para proteínas que regulan la maduración, transporte o polimerización de lipoproteína lipasa-1 son las causas más comunes, pero no las únicas. El objetivo de este estudio fue reportar el primer caso documentado en el Ecuador.Caso clínico: hombre de 38 años que presentó hepatoesplenomegalia crónica, trombocitopenia, atrofia pancreática e hipertrigliceridemia severa refractaria al tratamiento. Se realizó un análisis molecular por secuenciación de nueva generación que determinó una deficiencia de lipoproteína lipasa OMIM #238600 en homocigosis. La confirmación genética es necesaria a fin de poder establecer la etiología de HTGS para un adecuado manejo de esta patología.(AU)

Familial chylomicronemia syndrome (FCS) is a genetic entity with autosomal recessive inheritance. Mutations in genes (such as APOC2, APOAV, LMF-1, GPIHBP-1) that code for proteins that regulate the maturation, transport, or polymerization of lipoprotein lipase-1 are the most common causes, but not the only ones. The objective of this study was to report the first documented case in Ecuador.Clinical caseA 38-year-old man presented with chronic hepatosplenomegaly, thrombocytopenia, pancreatic atrophy, and severe hypertriglyceridemia refractory to treatment. A molecular analysis was performed by next generation sequencing that determined a deficiency of Lipoprotein Lipase OMIM #238600 in homozygosis. Genetic confirmation is necessary in order to establish the etiology of HTGS for an adequate management of this pathology.(AU)

Familial chylomicronemia syndrome: The first case reported in Ecuador. / Síndrome de quilomicronemia familiar: primer caso reportado en Ecuador.

Familial chylomicronemia syndrome (FCS) is a genetic entity with autosomal recessive inheritance. Mutations in genes (such as APOC2, APOAV, LMF-1, GPIHBP-1) that code for proteins that regulate the maturation, transport, or polymerization of lipoprotein lipase-1 are the most common causes, but not the only ones. The objective of this study was to report the first documented case in Ecuador. CLINICAL CASE: A 38-year-old man presented with chronic hepatosplenomegaly, thrombocytopenia, pancreatic atrophy, and severe hypertriglyceridemia refractory to treatment. A molecular analysis was performed by next generation sequencing that determined a deficiency of Lipoprotein Lipase OMIM #238600 in homozygosis. Genetic confirmation is necessary in order to establish the etiology of HTGS for an adequate management of this pathology.

Síndrome de quilomicronemia familiar: experiencia pediátrica en Argentina / Familial chylomicronemia syndrome: pediatric experience in Argentina

El síndrome de quilomicronemia familiar (SQF) es unaenfermedad autosómica recesiva rara, con una prevalencia1:200 000 - 1:1 000 000, y se caracteriza por quilomicronemiaen ayunas y niveles muy elevados de triglicéridos (> 880 mg/dl). LPL es el gen más frecuentemente afectado, luego APOC2,GPIHBP1, APOA5 y LMF1; todos ellos comprometen la función de la lipoproteinlipasa endotelial. El SQF suele presentarseen la infancia con dolor abdominal recurrente, xantomaseruptivos, retraso del crecimiento, pancreatitis y, en ocasiones,asintomático. El tratamiento convencional es la restriccióndietética de grasas. Se muestra el resultado clínico de 20 pacientes pediátricoscon SQF reclutados de 4 hospitales en Argentina.

Familial chylomicronemia syndrome (FCS) is a rare autosomalrecessive disease, prevalence 1:200,000 - 1:1,000,000, andis characterized by fasting chylomicrons and very hightriglycerides > 880 mg/dl. LPL is the most frequentlyaffected gene, then APOC2, GPIHBP1, APOA5, LMF1, all ofthem compromising the function of lipoproteinlipase. FCScommonly presents in childhood with recurrent abdominalpain, eruptive xanthomas, failure to thrive, pancreatitis, andsometimes asymptomatic. The conventional treatment isdietetic fat restriction. The clinical outcome of 20 pediatric patients with FCS recruited from 4 hospitals in Argentina is reported.

Complicaciones asociadas a la nutrición parenteral en los enfermos con infección por SARS-CoV-2 / Parenteral nutrition-associated complications in patients with SARS-CoV-2 infection

Introducción: se desconoce si los pacientes diagnosticados de infección respiratoria aguda por SARS-CoV-2 (COVID-19) presentan más riesgo de complicaciones asociadas a la nutrición parenteral (NP). Objetivo: conocer la incidencia, los factores de riesgo y la mortalidad de las complicaciones asociadas a la NP en esta población. Métodos: estudio de cohortes prospectivo de 87 pacientes diagnosticados de infección por SARS-CoV-2. Se analizan la tasa de incidencia de las complicaciones y las odds ratio (OR) de diferentes factores. Resultados: la edad ≥ 65 años (OR: 2,52, IC 95 %: 1,16 a 5,46), los antecedentes de obesidad (OR: 3,34, IC 95 %: 2,35 a 4,33) y el tratamiento con propofol (OR: 2,45, IC 95 %: 1,55 a 3,35) o lopinavir/ritonavir (OR: 4,98, IC 95 %: 3,60 a 6,29) se asociaron al desarrollo de hipertrigliceridemia. Los pacientes con obesidad (OR: 3,11, IC 95 %: 1,10 a 8,75) o dislipemia (OR: 3,22, IC 95 %: 1,23 a 8,40) y los tratados con propofol (OR: 5,47, IC 95 %: 1,97 a 15,1) presentaron mayor riesgo de infección asociada al catéter (IAC). No se observó ningún factor de riesgo relacionado con el desarrollo de hiperglucemia. La mortalidad fue mayor en los pacientes con IAC (46,7 % vs. 10,8 %, p = 0,014). El riesgo de mortalidad fue superior en los enfermos de ≥ 65 años (OR: 2,74, IC 95 %: 1,08 a 6,95) o con IAC (OR: 3,22, IC 95 %: 1,23 a 8,40). Conclusiones: la incidencia de complicaciones asociadas a la NP en pacientes diagnosticados de infección por SARS-CoV-2 es elevada. El riesgo de mortalidad es superior en los enfermos mayores de 65 años o con IAC (AU)

Background: it is unknown whether patients with acute respiratory distress syndrome (ARDS) secondary to COVID-19 are at greater risk of developing complications associated with parenteral nutrition (PN). Aim: to describe the incidence, risk factors, and clinical impact of complications in patients with ARDS-COVID-19 receiving PN. Methods: a prospective cohort study of 87 patients with ARDS-COVID-19 infection. The incidence of complications and odds ratios of risk factors were analysed. Results: age ≥ 65 years (OR, 2.52, 95 % CI: 1.16 to 5.46), obesity (OR, 3.34, 95 % CI: 2.35 to 4.33) and treatment with propofol (OR, 2.45, 95 % CI: 1.55 to 3.35) or lopinavir/ritonavir (OR, 4.98, 95 % CI: 3.60 to 6.29) were risk factors for hipertriglyceridemia. Obesity (OR, 3.11, 95 % CI: 1.10 to 8.75), dyslipidemia (OR, 3.22, 95 % CI: 1.23 to 8.40) or treatment with propofol (OR, 5.47, 95 % CI: 1.97 to 15.1) were risk factors for intravascular catheter-related infection. No risk factors were described for hiperglycemia. Mortality was higher in patients with intravascular catheter-related infection (46.7 % vs 10.8 %, p = 0.014). Mortality risk was higher in older patients (OR, 2.74, 95 % CI: 1.08 to 6.95) or patients with intravascular catheter-related infection (OR, 3.22, 95 % CI: 1.23 to 8.40). Conclusions: the incidence of complications associated with PN in patients with COVID-19-related ARDS is frequent. The mortality risk is higher in older patients or those with catheter-related infection (AU)

El ácido bempedoico como activador PPAR alfa: Nuevas perspectivas para el tratamiento de la esteatosis hepática en un modelo experimental de rata hembra / Bempedoic acid as a PPAR alfa activator: new perspectives for hepatic steatosis treatment in a female rat experimental model

INTRODUCCIÓN: La enfermedad del hígado graso no alcohólico cursa, en sus fases iniciales, con hipertrigliceridemia y acúmulo de lípidos en el hígado (esteatosis hepática). El ácido bempedoico es un inhibidor de la ATP:citrato liasa que promueve una inhibición dual de la síntesis de colesterol y ácidos grasos. Sin embargo, no se ha investigado su efecto en la prevención/tratamiento de la esteatosis hepática y la hipertrigliceridemia. El objetivo de nuestro trabajo ha sido elucidar si el ácido bempedoico, mediante un mecanismo diferente/alternativo a la inhibición de la ATP:citrato liasa, revierte estas alteraciones metabólicas. DISEÑO EXPERIMENTAL: El estudio se realizó con un modelo animal de rata Sprague-Dawley hembra alimentada, durante 3 meses, con una dieta rica en grasa saturada suplementada con fructosa al 10% (p/v) en el agua de bebida. Se administró, durante el último mes, ácido bempedoico (30mg/kg/día) a un grupo de animales. Se analizaron parámetros zoométricos, se realizaron valoraciones plasmáticas, de expresión génica y proteica en muestras de hígado y se determinó la actividad de unión PPAR-PPRE. RESULTADOS: Nuestro modelo de intervención dietética desarrolló esteatosis hepática e hipertrigliceridemia. A pesar de un aumento en la ingesta calórica total, no se observó un incremento de peso corporal de los animales. La administración de ácido bempedoico redujo significativamente la esteatosis hepática y promovió una marcada hipertrofia de los hepatocitos. Se observó un incremento del 66% en el peso del hígado de los animales tratados con el fármaco, que no se acompañó de modificaciones en los marcadores de inflamación, estrés oxidativo o estrés de retículo endoplasmático. El ácido bempedoico activó el receptor nuclear activado por proliferadores peroxisómicos (PPARα) y sus genes diana.

INTRODUCTION: In its initial stages, nonalcoholic fatty liver disease presents hypertriglyceridemia and accumulation of lipids in the liver (hepatic steatosis). Bempedoic acid is an ATP:citrate lyase inhibitor that promotes a dual inhibition of the synthesis of cholesterol and fatty acids. However, its effect in the prevention / treatment of hepatic steatosis and hypertriglyceridemia has not been investigated. The aim of our work has been to elucidate whether bempedoic acid, through a mechanism other than ATP:citrate lyase inhibition, reverses these metabolic alterations. EXPERIMENTAL DESIGN: The study was carried out in female Sprague-Dawley rats fed, for three months, with a high fat diet supplemented with fructose (10% w/v) in drinking water. During the last month, bempedoic acid (30mg/kg/day) was administered to a group of animals. Zoometric and plasmatic parameters were analyzed, gene and protein expression analysis were performed in liver samples and PPAR-PPRE binding activity was determined. RESULTS: Our interventional model developed hepatic steatosis and hypertriglyceridemia. Despite an increase in total caloric intake, there was no increase in body weight of the animals. The administration of bempedoic acid significantly reduced hepatic steatosis and promoted a marked hepatocyte hypertrophy. There was a 66% increase in the liver weight of the animals treated with the drug that was not accompanied by modifications in the markers of inflammation, oxidative stress, or endoplasmic reticulum stress. Bempedoic acid activated the peroxisome proliferator activated nuclear receptor (PPARα) and its target genes.