Liver disease and dyslipidemia as a manifestation of lysosomal acid lipase deficiency (LAL-D). Clinical and diagnostic aspects, and a new treatment. An update
| Autor: | Paula Rozenfeld, Andrea Cotti, Mirta Ciocca, Eduardo Fassio, Federico Piñero, Marcela Galoppo, Cristina Canero Velasco, Luisa Bay, Miriam Cuarterolo, Alejandro Fainboim |
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| Rok vydání: | 2016 |
| Předmět: |
Adult
medicine.medical_specialty CIENCIAS MÉDICAS Y DE LA SALUD Cirrhosis Adolescent Inmunología Lysosomal acid lipase deficiency Gastroenterology 03 medical and health sciences Liver disease 0302 clinical medicine Chyrrosis Internal medicine Hyperlipidemia medicine Humans Child Ciencias Exactas Dyslipidemias Hemophagocytic lymphohistiocytosis business.industry Liver Diseases Fatty liver Non Alcoholic Fatty Liver Disease Infant Newborn Wolman Disease Infant purl.org/becyt/ford/3.1 [https] medicine.disease Medicina Básica 030220 oncology & carcinogenesis Child Preschool Ciencias Médicas Pediatrics Perinatology and Child Health Elevated transaminases 030211 gastroenterology & hepatology purl.org/becyt/ford/3 [https] business Dyslipidemia Non-alcoholic fatty liver disease |
| Zdroj: | CONICET Digital (CONICET) Consejo Nacional de Investigaciones Científicas y Técnicas instacron:CONICET |
| ISSN: | 1668-3501 |
| Popis: | 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 Fisiopatológicos Facultad de Ciencias Exactas |
| Databáze: | OpenAIRE |
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