Treatment of LPLD has two different objectives: immediate prevention of pancreatitis attacks and long term reduction of cardiovascular disease risk. Treatment is mainly based on medical nutrition therapy to maintain plasma triglyceride concentration below 11,3 mmol/L (1000 mg/dL). Maintenance of triglyceride levels below 22,6 mmol/L (2000 mg/dL) prevents in general from recurrent abdominal pain. Strict low fat diet and avoidance of simple carbohydrates Restriction of dietary fat to not more than 20 g/day or 15% of the total energy intake is usually sufficient to reduce plasma triglyceride concentration, although many patients report that to be symptom free a limit of less than 10g/day is optimal. Simple carbohydrates should be avoided as well. Medium-chain triglycerides can be used for cooking, because they are absorbed into the portal vein without becoming incorporated into chylomicrons. Fat-soluble vitamins A, D, E, and K, and minerals should be supplemented in patients with recurrent pancreatitis since they often have deficiencies as a result of malabsorption of fat. However, the diet approach is difficult to sustain for many of the patients. Lipid lowering drugs Lipid-lowering agents such as fibrates and omega-3-fatty acids can be used to lower TG levels in LPLD; however, those drugs are very often not effective enough to reach treatment goals in LPLD patients. Statins should be considered to lower elevated non-HDL-Cholesterol. Additional measures are avoidance of agents known to increase endogenous triglyceride levels, such as alcohol, estrogens, diuretics, isotretinoin, antidepressants (e.g. sertraline) and b-adrenergic blocking agents. Gene therapy In 2012, the European Commission approved alipogene tiparvovec (Glybera), a gene therapy for adults diagnosed with familial LPLD (confirmed by genetic testing) and suffering from severe or multiple pancreatitis attacks despite dietary fat restrictions. It was the first gene therapy to receive marketing authorization in Europe; it was priced at about $1 million per treatment, and as of 2016, only one person had been treated with it commercially. A total of 31 patients were treated with Glybera, most for free in clinical trials before the drug was taken off the market.
Lipoprotein lipase deficiency
Lecithin cholesterol acyltransferase deficiency
Apolipoprotein B deficiency
Lysosomal acid lipase deficiency
Acyl-CoA oxidase deficiency
Glycerol kinase deficiency
Acid lipase disease
2,4 Dienoyl-CoA reductase deficiency