FCS: the challenges of a low-fat life
Today, 5 November, is FCS Awareness Day, a day to learn more about familial chylomicronaemia syndrome (FCS) and how it affects life for those living with the syndrome.
Life with FCS is a challenge every day. The rare genetic disease can cause extreme pain and lead to social isolation and emotional distress.
An inherited condition that disrupts the way the body breaks down fats, FCS can lead to a build-up of fat in the blood, which can in turn cause other serious health problems.[1] These can include pancreatitis (inflammation of the pancreas), severe abdominal pain, enlargement of the liver and spleen, and small yellow skin lesions.
People living with FCS need to follow an extremely low-fat diet, limited to 10-20g of any type of fat each day. That is the equivalent of one or two teaspoons of low-fat oil per day. Such a diet makes it difficult to join in many social activities revolving around food which most people take for granted.
The symptoms including severe pain, and the burden of complying with such a stringent diet, can have a negative effect on social and emotional well-being. Unemployed people living with FCS often attribute their unemployment to the disease.[2]
As Anna Rundcrantz, Portfolio Director for Specialty Care at Sobi, says: “FCS has a major impact on quality of life. If you are living with chronic abdominal pain, you can’t work, you can’t socialise, you can’t go to school.”[3]
FCS is thought to affect one to two people per million, and an estimated 3,000 to 5,000 people globally are thought to live with the disease.[4]
The standard of care has been the extremely low-fat diet, but it does not bring the disease under control for everyone, meaning that many people continue to live with pain and other severe symptoms.
Prevalence is around 1 per million: Sweden has around 10 patients, the UK 50-60. [5]
References
[1] Familial chylomicronemia syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program (nih.gov)
[2] Davidson M, et al. J Clin Lipidol. 2018;12(4):898–907.
Arca M, et al. Expert Rev Cardivasc Ther. DOI: 10.1080/14779072.2018.1487290.
[3] Davidson M, et al. J Clin Lipidol. 2018;12(4):898–907.
Arca M, et al. Expert Rev Cardivasc Ther. DOI: 10.1080/14779072.2018.1487290.
[4] The burden of familial chylomicronemia syndrome: Results from the global IN-FOCUS study - ScienceDirect
[5] Gaudet D, et al. Lipids Health Dis. 2020;19(120):1–13.