Hepatic lipase deficiency in a Middle-Eastern-Arabic male

BMJ Case Rep. 2010 Nov 12:2010:bcr1220092589. doi: 10.1136/bcr.12.2009.2589.

Abstract

Hepatic lipase (HL) deficiency is a rare genetic disorder that has been associated with premature atherosclerosis despite high plasma high-density lipoprotein (HDL) cholesterol concentrations in the affected individuals. The authors describe the clinical and biochemical features of HL deficiency in a young male of Middle-Eastern-Arabic origin. This is the first report of cholesterol ester transfer protein (CETP) activity and mass in HL deficiency in a patient from this ethnic group. While the CETP mass was high, its activity was low, a discrepancy likely due to the abnormal composition of patient's HDL particles.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Arabs / genetics*
  • Fluorobenzenes / therapeutic use
  • Genetic Diseases, Inborn / diagnosis
  • Genetic Diseases, Inborn / genetics
  • Humans
  • Hydroxymethylglutaryl-CoA Reductase Inhibitors / therapeutic use
  • Lipase / deficiency*
  • Lipase / genetics
  • Lipoproteins, HDL / blood
  • Male
  • Middle East
  • Pyrimidines / therapeutic use
  • Rosuvastatin Calcium
  • Sulfonamides / therapeutic use

Substances

  • Fluorobenzenes
  • Hydroxymethylglutaryl-CoA Reductase Inhibitors
  • LIPC protein, human
  • Lipoproteins, HDL
  • Pyrimidines
  • Sulfonamides
  • Rosuvastatin Calcium
  • Lipase