Lipoprotein Lipase Deficiency Arising in Type V Dyslipidemia

A 40-year-old Japanese man presented with child-onset hypertriglyceridemia recently complicated by diabetes mellitus. The patient's diabetes mellitus was maintained, but he had persistent insulin resistance. The patient also had persistent severe hypertriglyceridemia (1,224-4,104 mg/dL), despit...

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Detalles Bibliográficos
Autores principales: Tanaka, Sho, Ueno, Takahiro, Tsunemi, Akiko, Nakamura, Yoshihiro, Kobayashi, Hiroki, Hatanaka, Yoshinari, Haketa, Akira, Fukuda, Noboru, Soma, Masayoshi, Abe, Masanori
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6378159/
https://www.ncbi.nlm.nih.gov/pubmed/30210108
http://dx.doi.org/10.2169/internalmedicine.0952-18
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author Tanaka, Sho
Ueno, Takahiro
Tsunemi, Akiko
Nakamura, Yoshihiro
Kobayashi, Hiroki
Hatanaka, Yoshinari
Haketa, Akira
Fukuda, Noboru
Soma, Masayoshi
Abe, Masanori
author_facet Tanaka, Sho
Ueno, Takahiro
Tsunemi, Akiko
Nakamura, Yoshihiro
Kobayashi, Hiroki
Hatanaka, Yoshinari
Haketa, Akira
Fukuda, Noboru
Soma, Masayoshi
Abe, Masanori
author_sort Tanaka, Sho
collection PubMed
description A 40-year-old Japanese man presented with child-onset hypertriglyceridemia recently complicated by diabetes mellitus. The patient's diabetes mellitus was maintained, but he had persistent insulin resistance. The patient also had persistent severe hypertriglyceridemia (1,224-4,104 mg/dL), despite the administration of bezafibrate and ezetimibe. Type V dyslipidemia was revealed by agarose gel electrophoresis and the refrigerator test, and a significantly reduced post-heparin lipoprotein lipase mass of 26 ng/mL was confirmed. Genetic testing confirmed two heterozygous LPL variants, p.Tyr88X and p.Gly215Glu in trans; thus, the patient was diagnosed with lipoprotein lipase deficiency. Lipoprotein lipase deficiency typically arises in type I dyslipidemia, but is latent in type V dyslipidemia.
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spelling pubmed-63781592019-02-21 Lipoprotein Lipase Deficiency Arising in Type V Dyslipidemia Tanaka, Sho Ueno, Takahiro Tsunemi, Akiko Nakamura, Yoshihiro Kobayashi, Hiroki Hatanaka, Yoshinari Haketa, Akira Fukuda, Noboru Soma, Masayoshi Abe, Masanori Intern Med Case Report A 40-year-old Japanese man presented with child-onset hypertriglyceridemia recently complicated by diabetes mellitus. The patient's diabetes mellitus was maintained, but he had persistent insulin resistance. The patient also had persistent severe hypertriglyceridemia (1,224-4,104 mg/dL), despite the administration of bezafibrate and ezetimibe. Type V dyslipidemia was revealed by agarose gel electrophoresis and the refrigerator test, and a significantly reduced post-heparin lipoprotein lipase mass of 26 ng/mL was confirmed. Genetic testing confirmed two heterozygous LPL variants, p.Tyr88X and p.Gly215Glu in trans; thus, the patient was diagnosed with lipoprotein lipase deficiency. Lipoprotein lipase deficiency typically arises in type I dyslipidemia, but is latent in type V dyslipidemia. The Japanese Society of Internal Medicine 2018-09-12 2019-01-15 /pmc/articles/PMC6378159/ /pubmed/30210108 http://dx.doi.org/10.2169/internalmedicine.0952-18 Text en Copyright © 2019 by The Japanese Society of Internal Medicine https://creativecommons.org/licenses/by-nc-nd/4.0/ The Internal Medicine is an Open Access journal distributed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. To view the details of this license, please visit (https://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Tanaka, Sho
Ueno, Takahiro
Tsunemi, Akiko
Nakamura, Yoshihiro
Kobayashi, Hiroki
Hatanaka, Yoshinari
Haketa, Akira
Fukuda, Noboru
Soma, Masayoshi
Abe, Masanori
Lipoprotein Lipase Deficiency Arising in Type V Dyslipidemia
title Lipoprotein Lipase Deficiency Arising in Type V Dyslipidemia
title_full Lipoprotein Lipase Deficiency Arising in Type V Dyslipidemia
title_fullStr Lipoprotein Lipase Deficiency Arising in Type V Dyslipidemia
title_full_unstemmed Lipoprotein Lipase Deficiency Arising in Type V Dyslipidemia
title_short Lipoprotein Lipase Deficiency Arising in Type V Dyslipidemia
title_sort lipoprotein lipase deficiency arising in type v dyslipidemia
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6378159/
https://www.ncbi.nlm.nih.gov/pubmed/30210108
http://dx.doi.org/10.2169/internalmedicine.0952-18
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