Premature atherosclerosis in a Japanese diabetic patient with atypical familial partial lipodystrophy and hypertriglyceridemia

Intern Med. 2012;51(18):2573-9. doi: 10.2169/internalmedicine.51.7461. Epub 2012 Sep 15.

Abstract

We herein report a case of premature atherosclerosis in a patient with familial partial lipodystrophy (FPL), diabetes mellitus, hypertension and hypertriglyceridemia. Sequencing of the candidate genes LMNA, PPARG and CAV1 associated with FPL revealed no genetic abnormalities, which indicated the activity of a novel gene in this patient. The patient's son showed milder fat loss and similar fat distribution compared to the proband; however, the son showed no signs of any atherosclerotic disease. Although a cluster of atherogenic risk factors is likely to be the primary causes of atherosclerosis in our patient, other factors, including an unknown gene associated with FPL, the severity of fat loss and gender, might affect the development of atherosclerosis.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Caveolin 1 / genetics
  • Coronary Artery Disease / diagnosis*
  • Coronary Artery Disease / etiology*
  • Coronary Artery Disease / genetics
  • Diabetes Mellitus, Type 2 / complications*
  • Female
  • Humans
  • Hypertension / complications
  • Hypertriglyceridemia / complications*
  • Japan
  • Lamin Type A / genetics
  • Lipodystrophy, Familial Partial / complications*
  • Male
  • Middle Aged
  • Mutation / genetics
  • Obesity / complications
  • PPAR gamma / genetics
  • Pedigree

Substances

  • CAV1 protein, human
  • Caveolin 1
  • LMNA protein, human
  • Lamin Type A
  • PPAR gamma