Lipoprotein Lipase Deficiency

Indian J Pediatr. 2021 Feb;88(2):147-153. doi: 10.1007/s12098-020-03305-z. Epub 2020 May 30.


Objectives: To analyse the clinical and molecular spectrum of Lipoprotein Lipase (LPL) deficiency and to highlight the effect of a cost-effective indigenous diet for management of this disorder.

Methods: This is a single-centre retrospective study. Fifteen patients from 14 kindreds with severe hypertriglyceridemia (more than 1000 mg/dl) were evaluated for a period of 12.5 y at Amrita Institute of Medical Sciences, Kerala, India.

Results: Thirteen of 15 patients were referred after incidental detection of lipemic plasma, 1/15 had chylothorax in the neonatal period and 1/15 had pancreatitis. The mean age of presentation was 7 mo (ranging from 2 d to 4 y), and 20% of the patients had a positive history of consanguinity. Hepatomegaly (15/15), splenomegaly (9/15) and lipemia retinalis (14/15) were common findings. Lipemia retinalis was a useful non-invasive diagnostic tool. All the patients were subjected to diet modification and followed up at regular intervals. Fourteen of 15 complied with the diet, resulting in a dramatic improvement in the fasting lipid profile; only 1/15 developed pancreatitis. Genetic screening analysis was offered to 14/15 patients (1/15 was lost to follow-up); six different variants were identified, of which two were novel variants.

Conclusions: Lipemic serum, chylothorax and recurrent pancreatitis in children should raise the suspicion of Lipoprotein Lipase deficiency. Early diagnosis and prompt initiation of a stringent fat-restricted diet are the keys to success for the management of LPL deficiency and prevention of pancreatitis.

Keywords: Diet; Lipemia retinalis; Lipemic plasma; Lipoprotein lipase deficiency; Pancreatitis.

MeSH terms

  • Child
  • Humans
  • Hyperlipoproteinemia Type I* / diagnosis
  • Hyperlipoproteinemia Type I* / genetics
  • Hypertriglyceridemia*
  • India / epidemiology
  • Infant, Newborn
  • Lipoprotein Lipase / genetics
  • Retrospective Studies


  • Lipoprotein Lipase