Liver disease and dyslipidemia as a manifestation of lysosomal acid lipase deficiency (LAL-D). Clinical and diagnostic aspects, and a new treatment. An update

Lysosomal acid lipase deficiency (LAL-D) is still a little recognized genetic disease with significant morbidity and mortality in children and adults. This document provides guidance on when to suspect LAL-D and how to diagnose it. It is recommended to add lysosomal acid lipase deficiency to the list of differential diagnoses of sepsis, oncological diseases, storage diseases, persistent diarrhea, chronic malnutrition, and hemophagocytic lymphohistiocytosis. It should also be considered in young patients with dyslipidemia and atherosclerosis as well as diseases associated with fatty liver and/or hepatomegaly. LAL-D should be suspected in patients with hepatomegaly, hyperlipidemia and/or elevated transaminases found during routine checks or testing for other conditions, and in patients with cryptogenic cirrhosis. At present, there is the option of a specific enzyme replacement treatment.Instituto de Estudios Inmunológicos y FisiopatológicosFacultad de Ciencias Exacta

Diagnosis and treatment of non-alcoholic fatty liver disease: Argentine Association for the Study of Liver Diseases, year 2019

El hígado graso no alcohólico (HGNA) es la enfermedad hepática crónica más frecuente en todo el mundo, con una prevalencia aproximada de 25% a nivel global. Su prevalencia es mucho mayor en pacientes con sobrepeso, obesidad y diabetes tipo 2 y es considerada como la manifestación hepática del síndrome metabólico. El espectro de la enfermedad hepática es muy amplio, desde la esteatosis simple a la esteatohepatitis, fibrosis, cirrosis y sus complicaciones, como el hepatocarcinoma. La mayoría de los pacientes afectados no progresará a la fibrosis avanzada/cirrosis. A pesar de esto, se ha descripto que la hepatopatía es la tercera causa de muerte entre los pacientes con HGNA, luego de las enfermedades cardiovasculares y las malignas. Entre la enorme cantidad de afectados, lo más importante es identificar a los que están en riesgo de evolución a la cirrosis o sus complicaciones y conocer las opciones de diagnóstico y tratamiento. En esta Guía organizada por la Asociación Argentina para el Estudio de las Enfermedades del Hígado se revisan las definiciones, los aspectos epidemiológicos, la historia natural y un enfoque práctico sobre algoritmos posibles para estimar la gravedad de la hepatopatía en cada caso, además de analizar los avances en el tratamiento y recomendaciones para el seguimiento. Es importante señalar que no se han publicado datos sobre incidencia o prevalencia de la enfermedad en población general de Argentina, y se alienta a la realización de los mismos.. Nonalcoholic fatty liver disease (NAFLD) is the most frequent chronic liver disease worldwide, with an estimated global prevalence of approximately 25%, that is much higher in patients with overweight, obesity and type 2 diabetes. NAFLD is considered as the hepatic manifestation of metabolic syndrome. It has a wide spectrum, from simple steatosis to steatohepatitis, fibrosis, cirrhosis and its complications, such as hepatocellular carcinoma. Most of the affected patients will not evolve to advanced fibrosis or cirrhosis. Despite this, it has been described that the hepatic disease is the third cause of death among patients with nonalcoholic fatty liver, after cardiovascular and malignant diseases. Among the huge number of patients affected, the main challenge is to identify those who are at risk of developing cirrhosis or its complications and to recognize the diagnostic and treatment options. In this Guideline, endorsed by the Argentine Association for the Study of Liver Diseases, the definitions, epidemiological aspects, natural history and a practical approach to possible algorithms to estimate the severity of liver disease in the individual patient are reviewed; in addition to analyzing advances in treatment and proposing recommendations for follow-up. It is important to note that no data on the incidence or prevalence of the disease have been published in the general population of Argentina, and it is encouraged to carry them out.Fil: Fassio, Eduardo. Hospital Nacional Profesor Alejandro Posadas; ArgentinaFil: Dirchwolf, Melisa. Hospital Privado de Rosario; ArgentinaFil: Barreyro, Fernando Javier. Universidad Nacional de Misiones. Facultad de Ciencias Exactas, Químicas y Naturales. Departamento de Microbiología; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Nordeste; ArgentinaFil: Adrover, Raúl. No especifíca;Fil: Alonso, M. Inés. No especifíca;Fil: Amante, Marcelo. No especifíca;Fil: Ameigeiras, Beatriz. No especifíca;Fil: Barreyro, Fernando J.. No especifíca;Fil: Benavides, Javier. No especifíca;Fil: Bessone, Fernando. No especifíca;Fil: Cairo, Fernando. No especifíca;Fil: Camino, Alejandra. No especifíca;Fil: Cañero Velasco, M. Cristina. No especifíca;Fil: Casciato, Paola. No especifíca;Fil: Cocozzella, Daniel. No especifíca;Fil: Daruich, Jorge. No especifíca;Fil: De Matteo, Elena. No especifíca;Fil: Dirchwolf, Melisa. No especifíca;Fil: Fassio, Eduardo. No especifíca;Fil: Fernández, José Luis. No especifíca;Fil: Fernández, Nora. No especifíca;Fil: Ferretti, Sebastián. No especifíca;Fil: Figueroa, Sebastián. No especifíca;Fil: Galoppo, Marcela. No especifíca;Fil: Godoy, Alicia. No especifíca;Fil: González Ballerga, Esteban. No especifíca;Fil: Graffigna, Mabel. No especifíca;Fil: Guma, Carlos. No especifíca;Fil: Lagues, Cecilia. No especifíca;Fil: Marino, Mónica. No especifíca;Fil: Mendizábal, Manuel. No especifíca;Fil: Mesquida, Marcelo. No especifíca;Fil: Odzak, Andrea. No especifíca;Fil: Peralta, Mirta. No especifíca;Fil: Ridruejo, Ezequiel. No especifíca;Fil: Ruffillo, Gabriela. No especifíca;Fil: Sordá, Juan A.. No especifíca;Fil: Tanno, Mario. No especifíca;Fil: Villamil, Alejandra. No especifíca;Fil: Colombato, Luis. No especifíca;Fil: Fainboim, Hugo. No especifíca;Fil: Gadano, Adrián. No especifíca;Fil: Galoppo, Cristina. No especifíca;Fil: Villamil, Federico. No especifíca

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Impact of the single-dose immunization strategy against hepatitis A in Argentina

Fil: Vizzotti, Carla. Ministerio de Salud de la Nación; Argentina.Fil: González, Jorge. ANLIS Dr.C.G.Malbrán. Instituto Nacional de Enfermedades Infecciosas; Argentina.Fil: Gentile, Angela. Sociedad Argentina de Pediatría; Argentina.Fil: Rearte, Analía. Ministerio de Salud de la Nación; Argentina.Fil: Ramonet, Margarita. Sociedad Argentina de Pediatría; Argentina.Fil: Cañero-Velasco, María Cristina. Sociedad Argentina de Pediatría; Argentina.Fil: Pérez Carrega, María Eugenia. Ministerio de Salud de la Nación; Argentina.Fil: Urueña, Analía. Ministerio de Salud de la Nación; Argentina.Fil: Diosque, Máximo. Ministerio de Salud de la Nación; Argentina.Background: After a country wide outbreak occurred during 2003-2004, 1 dose of hepatitis A vaccine was introduced into Argentinian regular immunization schedule for all children aged 12 months in June 2005. The aim of this study was to assess the impact of this novel intervention. Methods: A longitudinal analysis was done of hepatitis A virus (HAV) infection rates reported to the National Epidemiological Surveillance System from 2000 to 2011. Occurrence of fulminant hepatic failure (FHF) and liver transplantation cases up to 2011 were also assessed. Incidence rates and clinical impact were compared between pre- and postvaccination periods (2000-2002 vs. 2006-2011). Notification rates were also compared by age groups and geographical regions. Results: Since 2006, an abrupt decline was observed in HAV infection rates, as well as in FHF and liver transplantation cases. The mean incidence rate of 7.9/100,000 in the postvaccination period represents a reduction of 88.1% (P 14 years of age. Conclusions: The single-dose vaccination strategy has been highly effective for controlling HAV infection in all age groups till now in Argentina. Long-term surveillance will be critical to document the sustained success of this unique intervention

Liver disease and dyslipidemia as a manifestation of lysosomal acid lipase deficiency (LAL-D). Clinical and diagnostic aspects, and a new treatment. An update

Lysosomal acid lipase deficiency (LAL-D) is stilla little recognized genetic disease with significantmorbidity and mortality in children and adults.This document provides guidance on whento suspect LAL-D and how to diagnose it. Itis recommended to add lysosomal acid lipasedeficiency to the list of differential diagnoses ofsepsis, oncological diseases, storage diseases,persistent diarrhea, chronic malnutrition, andhemophagocytic lymphohistiocytosis. It shouldalso be considered in young patients withdyslipidemia and atherosclerosis as well as diseasesassociated with fatty liver and/or hepatomegaly.LAL-D should be suspected in patients withhepatomegaly, hyperlipidemia and/or elevatedtransaminases found during routine checks ortesting for other conditions, and in patientswith cryptogenic cirrhosis. At present, thereis the option of a specific enzyme replacementtreatment.Fil: Bay, Maria Luisa. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; ArgentinaFil: Cañero Velasco, Cristina. Hospital de Niños de San Justo; ArgentinaFil: Ciocca, Mirta. Hospital Alemán; ArgentinaFil: Cotti, Andrea. Hospital Universitario Austral; ArgentinaFil: Cuarterolo, Miriam. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; ArgentinaFil: Fainboim, Alejandro. Hospital de Niños Ricardo Gutiérrez; ArgentinaFil: Fassio, Eduardo. Hospital Nacional Prof. Alejandro Posadas; ArgentinaFil: Galoppo, Marcela. Hospital de Niños Ricardo Gutiérrez; ArgentinaFil: Piñero, Federico. Hospital Universitario Austral; ArgentinaFil: Rozenfeld, Paula Adriana. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto de Estudios Inmunológicos y Fisiopatológicos. Universidad Nacional de La Plata. Facultad de Ciencias Exactas. Instituto de Estudios Inmunológicos y Fisiopatológicos; Argentin