Lipoprotein lipase deficiency (R243h) in a type 2 diabetes patient with multiple arterial aneurysms

Toru Suzuki, Shojiro Sawada, Yasushi Ishigaki, Sohei Tsukita, Shinjiro Kodama, Takashi Sugisawa, Junta Imai, Tetsuya Yamada, Takashi Yamaguchi, Takeyoshi Murano, Hideki Katagiri

Research output: Contribution to journalArticlepeer-review

6 Citations (Scopus)

Abstract

Lipoprotein lipase (LPL) deficiency is a rare monogenic disorder that manifests as severe hypertriglyceridemia. Whether or not LPL deficiency accelerates the development of atherosclerosis remains controversial. We herein report a 66-year-old woman who was homozygous for the R243H LPL mutation. She had developed multiple arterial aneurysms and systemic atherosclerosis despite good control of other atherogenic risk factors, including diabetes. Furthermore, although intensive pharmaceutical therapies had been minimally effective, medium chain triglyceride (MCT) therapy reduced the serum triglyceride levels. Thus, this case suggests important role that mutated LPL protein plays in the progression of atherosclerosis and that MCT therapy is potentially effective, even for severe hypertriglyceridemia due to LPL deficiency.

Original languageEnglish
Pages (from-to)1131-1136
Number of pages6
JournalInternal Medicine
Volume55
Issue number9
DOIs
Publication statusPublished - 2016

Keywords

  • Aneurysm
  • Atherosclerosis
  • Lipoprotein lipase (LPL) deficiency
  • Medium chain triglyceride (MCT) therapy
  • R243H

ASJC Scopus subject areas

  • Internal Medicine

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