FCS Awareness Day – attention and knowledge can save lives
November 3 is Familial chylomicronemia syndrome (FCS) Awareness Day. Research, diagnostic tools, and the rapid development of genetic diagnostics have completely changed the possibility to give patients with FCS a correct diagnosis and treatment.1-3 Despite this, many patients do not receive a correct diagnosis or the opportunity to receive a genetically determined diagnosis.1
FCS is an ultra-rare disease which causes extremely high levels of triglycerides in the blood, which are a type of fat that come from food. FCS is often poorly recognised in the primary-care setting.1 Lack of disease awareness and the heterogeneity of signs and symptoms are key barriers leading to a low rate of appropriate referrals and follow-up.1 The patient’s journey from first symptom to diagnosis can be potentially life-threatening due to recurrent pancreatitis.1,2
Giovanni Bader, MD, PhD, Medical Programme Lead at Sobi, says: “It is very important to reach out with up-to-date knowledge about FCS so that healthcare professionals are aware of the new genetic diagnostic possibilities when triglyceride levels are extremely high otherwise there is a risk that the correct diagnosis will be further delayed.”
The standard of care has been an extremely low-fat diet, but this doesn’t bring the disease under control for everyone, meaning that many people continue to live with pain and other severe symptoms.1
To increase awareness of FCS and guide towards diagnosis, FCS Awareness Day provides a rare opportunity to recognise individuals and meet families living with FCS.
Anna Rundcrantz, Portfolio Director for Specialty Care at Sobi, says: ”Coping with FCS presents a constant struggle. When you endure persistent abdominal pain, fatigue, the threat of pancreatitis – a potentially fatal condition – and also need to adhere to a strict diet, it becomes difficult to keep a job, engage in social activities, and attend school, significantly diminishing one's quality of life.”1-3
Apart from increasing awareness of the disease FCS Awareness Day also contributes to spreading knowledge about research on diagnostics and genetic testing.
Sobi has developed the website SpotlightFCS, to facilitate for healthcare professionals to stay up-to-date on research and recommendations within FCS. The website will continuously be updated with the latest information and research. Apart from English, SpotlightFCS is also available in German and soon also in Italian, Spanish and Portoguese.
References
1. Moulin P, et al. Atherosclerosis. 2018;275:265-72.
2. Davidson M, et al. J Clin Lipidol. 2018;12(4):898-907.
3. Gaudet D, et al. Lipids Health Dis. 2020;19(120):1–13.
We provide access to innovative treatments that transform life for people.
Our therapies are concentrated within the areas of Haematology, Immunology and Specialty Care.
We contribute to societies by improving access to treatment of rare diseases.
Every day, we work actively to find better ways to understand and meet patient needs.
Find out more about our business and financial performance.
Here we present current and past media releases, images and videos.
- About
- Therapeutic areas
- Medicines
- Stories
- Sustainability
- Careers
- Investors
- Media