FCS background information
Familial Chylomicronaemia Syndrome (FCS), was previously known under the name Lipoprotein Lipase Deficiency (LPLD). FCS is an inherited, ultra-rare recessive condition which arises from genetic mutations on any one of five currently identified genes. Having FCS means that patients are unable to metabolise fat which accumulates in their blood and makes it milky white. The fat accumulates as triglycerides which clump together as chylomicrons, causing symptoms such as abdominal pain, xanthomas (spots where fats accumulate), fatigue and pancreatitis which often requires hospitalisation. No drug therapy is currently available so the only way to manage symptoms is through a severely restricted diet of less than 20g fat daily, no sugar and no alcohol. Many patients aim to eat less than 10g fat and can still experience symptoms despite adherence to the restrictions.
How it started
The LPLD Alliance was created by a patient with a small board of trustees, it was changed to FCS Action in 2020 . Its aim is to raise awareness of the condition and to share information on how patients might manage these dietary restrictions. Before the charity was created, the patient had created a patient community on the EURORDIS platform RareConnect. This was the first online community for people with the condition, attracting patients from across the world. It soon became apparent that to best represent the patient experience the community needed to be formalised, so the charity was formed.
Sharing information
FCS Action’s main outlet is their website, where invaluable information for their community is provided. They have an active social media group which now has over 70 members. As the incidence of FCS is 1:1,000,000, this growth is a great achievement. The website encourages people to share their stories to reach out to other patients and invites physicians to work with them through their medical board.
Detailed examples of recipes are shared between patients and tips and tricks to help to manage the restrictions while participating in daily life, food shopping advice, recent developments in research and more can be found on the site.
Understanding what works
FCS Action’s dietary approach is not a list of rules set in stone. As each patient’s experience of FCS is different, the goal behind communicating with their community is to provide them with the knowledge and tools they need to make informed choices about how they approach their nutrition. This way they can build their own sustainable eating habits throughout their lives.
Many aspects of ordinary life present challenges for FCS patients. Doing a simple grocery shop immediately becomes challenging when trying to understand what products are safe for them. Eating out is particularly difficult, as identifying the fat content of food is often impossible. Explaining and being sure the extreme restrictions are understood when being catered for is often very stressful, and things can easily go wrong resulting in something unsuitable being served. It is here that the community comes together to help each other live a more enjoyable life.
Building a community
The most important aspect of building a community and reaching out to other patients is the ability to share experiences and find out what works and what doesn’t. FCS Action has accumulated a body of information where previously there was none, which is a very important aspect of providing help to those in need. The charity also strives to raise awareness and build the community through events. For example, their 10g Fat Challenge encourages people to eat only 10g of fat in a day to understand how difficult it is to manage the restrictions people with FCS face daily.
You can try the 10g fat challenge for yourself, with more details and much more at the FCS Action website.