Lipoprotein Lipase Deficiency (R243H) in a Type 2 Diabetes Patient with Multiple Arterial Aneurysms

Intern Med. 2016;55(9):1131-6. doi: 10.2169/internalmedicine.55.5239. Epub 2016 May 1.


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.

Publication types

  • Case Reports

MeSH terms

  • Aged
  • Aneurysm / diagnostic imaging
  • Aneurysm / etiology*
  • Atherosclerosis / etiology
  • Base Sequence
  • Diabetes Mellitus, Type 2 / complications*
  • Female
  • Homozygote
  • Humans
  • Hyperlipoproteinemia Type I / complications*
  • Hyperlipoproteinemia Type I / genetics
  • Hypertriglyceridemia / etiology
  • Lipoprotein Lipase / genetics
  • Mutation, Missense
  • Tomography, X-Ray Computed
  • Triglycerides / blood


  • Triglycerides
  • Lipoprotein Lipase