Familial Chylomicronemia Syndrome: Bringing to Life Dietary Recommendations Throughout the Life Span

J Clin Lipidol. Jul-Aug 2018;12(4):908-919. doi: 10.1016/j.jacl.2018.04.010. Epub 2018 Apr 27.


Background: Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive disorder with loss of function mutations of lipoprotein lipase resulting in hypertriglyceridemia and accumulation of chylomicrons in plasma, often leading to acute pancreatitis. The mainstay of treatment is a specialized very-low-fat diet. Even adhering to the diet, some patients may experience high triglycerides and pancreatitis. There currently are no comprehensive dietary guidelines.

Objective: To report best practices and develop comprehensive dietary guidelines for nutrition therapy in patients with FCS.

Methods: Registered dietitian nutritionists (RDNs) convened to develop this report based on experience treating patients with FCS and a review of current literature on the topic. One author provided a patient perspective of living with FCS.

Results: This report provides guidelines and rationales for nutrition therapy associated with FCS across the life span. The top global guidelines are to (1) limit fat to <15 to 20 g per day (<10%-15% of total daily energy intake); (2) meet recommendations for essential fatty acids: α-linolenic acid and linoleic acid; (3) choose complex carbohydrate foods while limiting simple and refined carbohydrate foods; (4) supplement with fat-soluble vitamins, minerals, and medium-chain triglyceride oil, as needed; (5) adjust calories for weight management. Recommended foods include vegetables, whole grains, legumes, lean protein foods, fruits in limited amounts, and fat-free milk products without added sugars. Foods to avoid include alcohol and products high in sugar.

Conclusions: These patient-centered nutrition guidelines provide guidance to help patients adhere to the recommended diet and optimize nutritional needs.

Keywords: Chylomicronemia; Dietary recommendations; Familial chylomicronemia syndrome (FCS); Hyperlipoproteinemia; Hypertriglyceridemia; Lipoprotein lipase deficiency; Low-fat diet; Pancreatitis; Pediatrics; Type 1 hyperlipoproteinemia.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Diet, Fat-Restricted*
  • Energy Intake
  • Guidelines as Topic
  • Humans
  • Hyperlipoproteinemia Type I / complications
  • Hyperlipoproteinemia Type I / diet therapy
  • Hyperlipoproteinemia Type I / pathology*
  • Life Style
  • Longevity
  • Nutrition Therapy
  • Pancreatitis / diagnosis
  • Pancreatitis / etiology

Supplementary concepts

  • Familial hyperchylomicronemia syndrome