Abstract
Familial chylomicronemia syndrome is a rare inherited disease. Recessive mutations in genes encoding lipoprotein lipase or modulator proteins result in loss of enzyme function. As a result, the removal of triglyceride-rich lipoproteins from plasma is impaired, severe hypertriglyceridemia develops, and the risk of acute pancreatitis sharply increases. The mainstay of treatment for patients with familial chylomicronemia syndrome is a specialized, very low-fat diet.
Reference21 articles.
1. Burnett JR, Hooper AJ, Hegele RA. Familial lipoprotein lipase deficiency. GeneReviews®. Seattle (WA): University of Washington, Seattle, 1993.
2. Pouwels ED, Blom DJ, Firth JC, et al. Severe Hypertriglyceridaemia as a result of Familial Chylomicronaemia. S Afr Med J. 2008;98(2):105-8.
3. Gotoda T, Shirai K, Ohta T, et al. Diagnosis and management of type I and type V hyperlipoproteinemia. J Atheroscler Thromb. 2012;19(1):1-12.
4. Nilsson SK, Heeren J, Olivecrona G, Merkel M. Apolipoprotein AV; a potent triglyceride reducer. Atherosclerosis. 2011;219(1):15-21.
5. Beigneux AP, Miyashita K, Ploug M, et al. Autoantibodies against GPIHBP1 as a cause of hypertriglyceridemia. New Eng J Med. 2017;376(17):1647-58.