Lipoprotein lipase deficiency arising in type V dyslipidemia

Sho Tanaka; Takahiro Ueno; Akiko Tsunemi; Yoshihiro Nakamura; Hiroki Kobayashi; Yoshinari Hatanaka; Akira Haketa; Noboru Fukuda; Masayoshi Soma; Masanori Abe

doi:10.2169/internalmedicine.0952-18

Lipoprotein lipase deficiency arising in type V dyslipidemia

Sho Tanaka, Takahiro Ueno, Akiko Tsunemi, Yoshihiro Nakamura, Hiroki Kobayashi, Yoshinari Hatanaka, Akira Haketa, Noboru Fukuda, Masayoshi Soma, Masanori Abe

Nihon University

Research output: Contribution to journal › Article › peer-review

4 Citations (Scopus)

Abstract

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.

Original language	English
Pages (from-to)	251-257
Number of pages	7
Journal	Internal Medicine
Volume	58
Issue number	2
DOIs	https://doi.org/10.2169/internalmedicine.0952-18
Publication status	Published - 15 Jan 2019

Keywords

Chylomicronemia
Lipoprotein lipase
Triglycerides

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.2169/internalmedicine.0952-18

Cite this

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title = "Lipoprotein lipase deficiency arising in type V dyslipidemia",

abstract = "A 40-year-old Japanese man presented with child-onset hypertriglyceridemia recently complicated by diabetes mellitus. The patient{\textquoteright}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.",

keywords = "Chylomicronemia, Lipoprotein lipase, Triglycerides",

author = "Sho Tanaka and Takahiro Ueno and Akiko Tsunemi and Yoshihiro Nakamura and Hiroki Kobayashi and Yoshinari Hatanaka and Akira Haketa and Noboru Fukuda and Masayoshi Soma and Masanori Abe",

note = "Publisher Copyright: {\textcopyright} 2019 The Japanese Society of Internal Medicine.",

year = "2019",

month = jan,

day = "15",

doi = "10.2169/internalmedicine.0952-18",

language = "English",

volume = "58",

pages = "251--257",

journal = "Internal Medicine",

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publisher = "Japanese Society of Internal Medicine",

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TY - JOUR

T1 - Lipoprotein lipase deficiency arising in type V dyslipidemia

AU - Tanaka, Sho

AU - Ueno, Takahiro

AU - Tsunemi, Akiko

AU - Nakamura, Yoshihiro

AU - Kobayashi, Hiroki

AU - Hatanaka, Yoshinari

AU - Haketa, Akira

AU - Fukuda, Noboru

AU - Soma, Masayoshi

AU - Abe, Masanori

PY - 2019/1/15

Y1 - 2019/1/15

N2 - 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.

AB - 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.

KW - Chylomicronemia

KW - Lipoprotein lipase

KW - Triglycerides

UR - https://www.scopus.com/pages/publications/85060046709

U2 - 10.2169/internalmedicine.0952-18

DO - 10.2169/internalmedicine.0952-18

M3 - Article

C2 - 30210108

AN - SCOPUS:85060046709

SN - 0918-2918

VL - 58

SP - 251

EP - 257

JO - Internal Medicine

JF - Internal Medicine

IS - 2

ER -

Lipoprotein lipase deficiency arising in type V dyslipidemia

Abstract

Keywords

UN SDGs

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