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Familial Chylomicronemia Syndrome (FCS)

Serious disease that prevents the body from breaking down fats

What is Familial Chylomicronemia Syndrome? 

Familial chylomicronemia syndrome (FCS) is a very rare, genetic disease that prevents the body from breaking down fats (triglycerides). Approximately 80% of people with familial chylomicronemia syndrome are either unable to make lipoprotein lipase (a digestive enzyme in the blood), or have an impaired form of it, leading to an increase in triglyceride levels.1,2,3

Symptoms of familial chylomicronemia syndrome include fatigue, impaired cognition, small yellowish bumps on the skin, abdominal pain, retinal veins that are milky in appearance, and unpredictable and potentially fatal pancreatitis.4,5,6,7 Patients may also have emotional and psychosocial effects, including anxiety, social withdrawal, depression and brain fog. Symptoms can develop as early as infancy, but some patients may not have symptoms until they are adults.

How Common is Familial Chylomicronemia Syndrome?  

Familial chylomicronemia syndrome is estimated to affect 1 individual per 700,000 to one million.8 Males and females are equally affected.9

How is PTC Working to Treat Familial Chylomicronemia Syndrome? 

Waylivra® (volanesorsen) is an antisense oligonucleotide, which blocks the production of a protein that slows the breakdown of specific fats, thereby reducing the level of triglycerides in the blood. PTC has in-licensed the rights to market Waylivra from Ionis Pharmaceuticals in Latin America.   


[1] Moulin P, Dufour R, Averna M, et al. Atherosclerosis 2018;275:265–272

[2] Baass A, Paquette M, Bernard S, et al. J Intern Med 2020;287:340–348.

[3] Stroes E, Moulin P, Parhofer KG, et al. Atheroscler Suppl 2017;23:1–7.

[4] Brahm AJ, Hegele RA. Nat Rev Endocrinol 2015;11:352–362.

[5] Gelrud A, Williams KR, Hsieh A, et al. Expert Rev Cardiovasc Ther 2017;15:879–887.

[6] Davidson M, Stevenson M, Hsieh A, et al. J Clin Lipidol 2018;12:898–907.

[7] Stroes E, Moulin P, Parhofer KG, et al. Atheroscler Suppl 2017;23:1–7.

[8] Goldberg RB, Chait A. Front Endocrinol (Lausanne) 2020;11.

[9] Burnett JR, Hooper AJ, Hegele RA. Familial Lipoprotein Lipase Deficiency. In MP Adam, HH Ardinger, RA Pagon, et al., editors. GeneReviews® – NCBI Bookshelf. Seattle, WA: University of Washington, Seattle; 1993–2021.

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