Lysosomal acid lipase deficiency: a hidden disease among cohorts of familial hypercholesterolemia?
Autor(a) principal: | |
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Data de Publicação: | 2017 |
Outros Autores: | , , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | http://hdl.handle.net/10400.18/4801 |
Resumo: | Highlights: - Dyslipidemia phenotype of patients with familial hypercholesterolemia and lysosomal acid lipase deficiency (LALD) can overlap; - Familial hypercholesterolemia negative patients should be investigated to identify possible LALD patients; - Correct identification of LALD patients is important for patient prognosis. Background: Lysosomal acid lipase deficiency (LALD) is an autosomal recessive disorder and an unrecognized cause of dyslipidemia. Patients usually present with dyslipidemia and altered liver function and mutations in LIPA gene are the underlying cause of LALD. Objective: The aim of this study was to investigate LALD in individuals with severe dyslipidemia and/or liver steatosis. Methods: Coding, splice regions, and promoter region of LIPA were sequenced by Sanger sequencing in a cohort of mutation-negative familial hypercholesterolemia (FH) patients (n = 492) and in a population sample comprising individuals with several types of dyslipidemia and/or liver steatosis (n = 258). Results: This study led to the identification of LALD in 4 children referred to the Portuguese FH Study, all with a clinical diagnosis of FH. Mild liver dysfunction was present at the age of FH diagnosis; however, a diagnosis of LALD was not considered. No adults at the time of referral have been identified with LALD. Conclusion: LALD is a life-threatening disorder, and early identification is crucial for the implementation of specific treatment to avoid premature mortality. FH cohorts should be investigated to identify possible LALD patients, who will need appropriate treatment. These results highlight the importance of correctly identifying the etiology of the dyslipidemia. |
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Lysosomal acid lipase deficiency: a hidden disease among cohorts of familial hypercholesterolemia?Cholesterol Ester Storage DiseaseFamilial HypercholesterolemiaLIPALysosomal Acid Lipase DeficiencyDoenças Cardio e Cérebro-vascularesHighlights: - Dyslipidemia phenotype of patients with familial hypercholesterolemia and lysosomal acid lipase deficiency (LALD) can overlap; - Familial hypercholesterolemia negative patients should be investigated to identify possible LALD patients; - Correct identification of LALD patients is important for patient prognosis. Background: Lysosomal acid lipase deficiency (LALD) is an autosomal recessive disorder and an unrecognized cause of dyslipidemia. Patients usually present with dyslipidemia and altered liver function and mutations in LIPA gene are the underlying cause of LALD. Objective: The aim of this study was to investigate LALD in individuals with severe dyslipidemia and/or liver steatosis. Methods: Coding, splice regions, and promoter region of LIPA were sequenced by Sanger sequencing in a cohort of mutation-negative familial hypercholesterolemia (FH) patients (n = 492) and in a population sample comprising individuals with several types of dyslipidemia and/or liver steatosis (n = 258). Results: This study led to the identification of LALD in 4 children referred to the Portuguese FH Study, all with a clinical diagnosis of FH. Mild liver dysfunction was present at the age of FH diagnosis; however, a diagnosis of LALD was not considered. No adults at the time of referral have been identified with LALD. Conclusion: LALD is a life-threatening disorder, and early identification is crucial for the implementation of specific treatment to avoid premature mortality. FH cohorts should be investigated to identify possible LALD patients, who will need appropriate treatment. These results highlight the importance of correctly identifying the etiology of the dyslipidemia.M. Bourbon received a project grant from Alexion to develop this study.Elsevier/ National Lipid AssociationRepositório Científico do Instituto Nacional de SaúdeChora, J.R.Alves, A.C.Medeiros, A.M.Mariano, C.Lobarinhas, G.Guerra, A.Mansilha, H.Cortez-Pinto, H.Bourbon, M.2021-03-01T01:30:13Z2017-032017-03-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.18/4801engJ Clin Lipidol. 2017 Mar - Apr;11(2):477-484.e2. doi: 10.1016/j.jacl.2016.11.002. Epub 2016 Nov 17.1933-287410.1016/j.jacl.2016.11.002info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-07-20T15:40:29Zoai:repositorio.insa.pt:10400.18/4801Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T18:39:30.673907Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
dc.title.none.fl_str_mv |
Lysosomal acid lipase deficiency: a hidden disease among cohorts of familial hypercholesterolemia? |
title |
Lysosomal acid lipase deficiency: a hidden disease among cohorts of familial hypercholesterolemia? |
spellingShingle |
Lysosomal acid lipase deficiency: a hidden disease among cohorts of familial hypercholesterolemia? Chora, J.R. Cholesterol Ester Storage Disease Familial Hypercholesterolemia LIPA Lysosomal Acid Lipase Deficiency Doenças Cardio e Cérebro-vasculares |
title_short |
Lysosomal acid lipase deficiency: a hidden disease among cohorts of familial hypercholesterolemia? |
title_full |
Lysosomal acid lipase deficiency: a hidden disease among cohorts of familial hypercholesterolemia? |
title_fullStr |
Lysosomal acid lipase deficiency: a hidden disease among cohorts of familial hypercholesterolemia? |
title_full_unstemmed |
Lysosomal acid lipase deficiency: a hidden disease among cohorts of familial hypercholesterolemia? |
title_sort |
Lysosomal acid lipase deficiency: a hidden disease among cohorts of familial hypercholesterolemia? |
author |
Chora, J.R. |
author_facet |
Chora, J.R. Alves, A.C. Medeiros, A.M. Mariano, C. Lobarinhas, G. Guerra, A. Mansilha, H. Cortez-Pinto, H. Bourbon, M. |
author_role |
author |
author2 |
Alves, A.C. Medeiros, A.M. Mariano, C. Lobarinhas, G. Guerra, A. Mansilha, H. Cortez-Pinto, H. Bourbon, M. |
author2_role |
author author author author author author author author |
dc.contributor.none.fl_str_mv |
Repositório Científico do Instituto Nacional de Saúde |
dc.contributor.author.fl_str_mv |
Chora, J.R. Alves, A.C. Medeiros, A.M. Mariano, C. Lobarinhas, G. Guerra, A. Mansilha, H. Cortez-Pinto, H. Bourbon, M. |
dc.subject.por.fl_str_mv |
Cholesterol Ester Storage Disease Familial Hypercholesterolemia LIPA Lysosomal Acid Lipase Deficiency Doenças Cardio e Cérebro-vasculares |
topic |
Cholesterol Ester Storage Disease Familial Hypercholesterolemia LIPA Lysosomal Acid Lipase Deficiency Doenças Cardio e Cérebro-vasculares |
description |
Highlights: - Dyslipidemia phenotype of patients with familial hypercholesterolemia and lysosomal acid lipase deficiency (LALD) can overlap; - Familial hypercholesterolemia negative patients should be investigated to identify possible LALD patients; - Correct identification of LALD patients is important for patient prognosis. Background: Lysosomal acid lipase deficiency (LALD) is an autosomal recessive disorder and an unrecognized cause of dyslipidemia. Patients usually present with dyslipidemia and altered liver function and mutations in LIPA gene are the underlying cause of LALD. Objective: The aim of this study was to investigate LALD in individuals with severe dyslipidemia and/or liver steatosis. Methods: Coding, splice regions, and promoter region of LIPA were sequenced by Sanger sequencing in a cohort of mutation-negative familial hypercholesterolemia (FH) patients (n = 492) and in a population sample comprising individuals with several types of dyslipidemia and/or liver steatosis (n = 258). Results: This study led to the identification of LALD in 4 children referred to the Portuguese FH Study, all with a clinical diagnosis of FH. Mild liver dysfunction was present at the age of FH diagnosis; however, a diagnosis of LALD was not considered. No adults at the time of referral have been identified with LALD. Conclusion: LALD is a life-threatening disorder, and early identification is crucial for the implementation of specific treatment to avoid premature mortality. FH cohorts should be investigated to identify possible LALD patients, who will need appropriate treatment. These results highlight the importance of correctly identifying the etiology of the dyslipidemia. |
publishDate |
2017 |
dc.date.none.fl_str_mv |
2017-03 2017-03-01T00:00:00Z 2021-03-01T01:30:13Z |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://hdl.handle.net/10400.18/4801 |
url |
http://hdl.handle.net/10400.18/4801 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
J Clin Lipidol. 2017 Mar - Apr;11(2):477-484.e2. doi: 10.1016/j.jacl.2016.11.002. Epub 2016 Nov 17. 1933-2874 10.1016/j.jacl.2016.11.002 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf |
dc.publisher.none.fl_str_mv |
Elsevier/ National Lipid Association |
publisher.none.fl_str_mv |
Elsevier/ National Lipid Association |
dc.source.none.fl_str_mv |
reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
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Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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RCAAP |
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RCAAP |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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1799132134430998528 |