Chylomicronemia Syndrome–A Rare Metabolic Disorder of Infancy


  • Vani Padmaja GJ
  • Rajyalakshmi S
  • Madhavi G
  • Shravan Kumar O


Chylomicronemia syndrome is a disorder passed down through families in which the body does not metabolize lipids. This causes fat particles called chylomicrons to build up in the blood. It is also known as Familial lipoprotein lipase (LpL) defi ciency. Chylomicronemia syndrome occurs due to a rare genetic disorder in which the enzyme LpL is broken or missing and it causes accumulation of chylomicrons. This is known as Chylomicronemia. LpL is normally found in adipose tissue and muscle. It helps in the breakdown of lipids. Symptoms may start in infancy and include: Abdominal pain due to pancreatitis, neurological symptoms, xanthomas and failure to thrive. Peripheral smear showed blasts with normocytic hypochromic anemia and thrombocytopenia and the Refrigeration test was positive. We report 3 cases of Chylomicronemia syndrome in the last 2 years.


Ameis D, Kobayashi J, Davis RC, Ben-Zeev O, Malloy MJ, Kane JP, Lee G, Wong H, Havel RJ, Schotz MC:

Familial chylomicronemia (type I hyperlipoproteinemia) due to a single missense mutation in the lipoprotein

lipase gene: Veterans Administration Wadsworth Medical Center, Los Angeles, California April 1991. J

Clin Invest. (1991). 87(4): 1165–70.

James William D, Berger Timothy G et al. (2006). Andrews’ Diseases of the Skin: clinical Dermatology.

Saunders Elsevier. ISBN 0-7216-2921-0. OCLC 62736861.

Rapini Ronald P, Bolognia, Jean L, Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby.

ISBN 1-4160-2999-0. OCLC 212399895.

Online ‘Mendelian Inheritance in Man’ (OMIM) Hyperlipoproteinemia, Type I -238600, updated

/18/2004 as of (October 2012).

A.D.A.M. Editorial Board (2011-05-29). ‘Familial lipoprotein lipase defi ciency’, David C.; Zieve, (National

Center for Biotechnology Information, published May 29, 2011). Retrieved (October 15, 2012).

Chait A, Brunzell JD. ‘Acquired hyperlipidemia (secondary dyslipoproteinemias)’. Endocrinol. Metab.

Clin. North Am. (1990 June). 19(2): 259–78.

Fredrickson DS, Lees RS (1965). A system for phenotyping hyperlipoproteinemia (PDF). Circulation

(3): 321–7. doi:10.1161/01.CIR.31.3.321.

Barnes-Jewish Hospital Laboratory-collection of sample for Refrigeration test in EDTA tube-jpg-net searchen.

Pie chart: developed by the American Pharmacists Association and supported by an educational grant from

AstraZeneca LP. (19 July 2011). Mikael Häggström.

Brunzell JD, Bierman EL. Chylomicronemia syndrome. Interaction of genetic and acquired hypertriglyceridemia. Med Clin North Am. (Mar 1982). 66(2): 455–68.

Chait A, Brunzell JD. Chylomicronemia syndrome. Adv Intern Med. (1992). 37: 249–73.

Michelle A. Fung, Jiri J. Frohlich. Common problems in the management of hypertriglyceridemia. JAMC;

(2002). 26 Nov.; 167 (11).






Case Report