The first Friday of November is Familial Chylomicronaemia Syndrome (FCS) Awareness Day, this year on 3rd November. This year we are delighted to be working in partnership with our UK-based network member, Action FCS, to raise awareness of FCS, and to amplify the under-estimated impact that living with the condition has on the lives of patients and those around them. We’re asking you to share in the challenge that many people with FCS face daily, attempting to live in a world, that literally, doesn’t cater for them!
People with FCS have inherited faulty gene variants which affect the function of a protein called lipoprotein lipase (LPL) needed for breaking down dietary fat. In some people with FCS, the genetic variants affect LPL directly and in others the genetic variants affect the function of another protein required to make LPL work effectively.
When fat is eaten in the diet it enters the bloodstream as triglycerides. Triglycerides are parcelled up with proteins into chylomicrons which are then broken down by LPL. People with FCS lack functioning LPL and cannot dispose of chylomicrons which remain in the blood and are responsible for its milky-white appearance. Chylomicrons circulate in the bloodstream and block small blood vessels in multiple organs which is thought to be how they cause the symptoms associated with FCS including abdominal pain which can be severe, and pancreatitis which can be life-threatening. Read more about FCS here and on the our news page.
To reduce the risk of pain and pancreatitis, patients are recommended to eat a diet of less than 20g of fat per day, avoid added sugars and drink no alcohol. The 20g fat limit includes both animal and vegetable fat, and fat found within food as well as added to food. For many patients, 20g fat is too high and still leaves them at risk of pancreatitis and they may only be able to eat about 10g fat a day. They need to supplement their diet with a medically prescribed oil called MCT oil (medium chain triglycerides), however, this is not available to all patients and is difficult to cook with.
Join FCS patients and eat only 10g fat over the whole day and help to raise awareness by making a video or photo diary recording the progress of your day and tag @fhpatienteurope and @ActionFCS using hashtags. #FCS10gFatChallenge #FCSAware2023 to help us to bring attention to this rare and under-diagnosed condition.
Commit to doing the challenge by sending your photo to us to share on social media.
We’ll send you a template of a suggested email to help you to nominate others
Contact jill@fheurope.org for suggestions on making your record of the day for social media and to have your photo put into a frame
The 10g of fat per day means all fats from any source – you will find dietary guidelines here. You may be surprised by how quickly your fat total adds up!
Calculating the amount of fat that you eat is usually a matter of mental maths.
You will find lots of information and general guidance here https://www.actionfcs.org/support/ including, on the resources page, a webinar led by dietitian Sarah Firmin from Guys and St Thomas’s Hospital in London, England who gives a thorough explanation of nutritional needs for people with FCS https://youtube.com/watch?v=YKfNe2OHAdI
We hope you will take the challenge and have fun doing so, whilst also raising awareness of this rare and underdiagnosed condition.
Good luck!
The first Friday of November is Familial Chylomicronaemia Syndrome (FCS) Awareness Day. This year we are delighted to be working in partnership with our UK-based network member, Action FCS, to raise awareness of FCS, and to amplify the under-estimated impact that living with the condition has on the lives of patients and those around them.
Familial chylomicronaemia syndrome, or FCS, is a rare familial hyperlipidaemia affecting between 1 in one hundred thousand people to 1 in one million people worldwide, with the lower prevalence of 1 in one million considered to be due to the lack of awareness and diagnosis.[1]
People with FCS have inherited faulty gene variants which affect the function of a protein called lipoprotein lipase (LPL) needed for breaking down dietary fat. In some people with FCS, the genetic variants affect LPL directly and in others the genetic variants affect the function of another protein required to make LPL work effectively.
When fat is eaten in the diet it enters the bloodstream as triglycerides. Triglycerides are parcelled up with proteins into chylomicrons which are then broken down by LPL. People with FCS lack functioning LPL and cannot dispose of chylomicrons which remain in the blood and are responsible for its milky-white appearance. Chylomicrons circulate in the bloodstream and block small blood vessels in multiple organs which is thought to be how they cause the symptoms associated with FCS.
The most serious of the symptoms is pancreatitis which can be life-threatening. Pancreatitis occurs when the pancreas, a gland that lies in the upper half of the abdomen behind the stomach and in front of the spine, becomes inflamed. If someone has multiple attacks of pancreatitis it may become permanently damaged. If this happens it is no longer able to perform its main functions of secreting proteins (digestive enzymes) needed for digestion of food and producing hormones including insulin for regulating blood sugar levels. People with a permanently damaged pancreas from pancreatitis may develop diabetes and need to inject insulin and may also need to take digestive enzyme capsules with every meal.
Other symptoms of FCS include abdominal pain, which can be severe, hepatosplenomegaly (enlargement of the liver or spleen), xanthoma (reddish-yellow bumps or nodules), and ‘brain fog’ – poor memory and lack of concentration.[3]
To reduce the risk of pancreatitis, patients are recommended to eat a diet of less than 20g of fat per day, avoid added sugars and drink no alcohol. The 20g fat limit includes both animal and vegetable fat, and fat found within food as well as added to food.[2] For many patients, 20g fat is too high and still leaves them at risk of pancreatitis and they may only be able to eat about 10g fat a day. They need to supplement their diet with a medically prescribed oil called MCT oil (medium chain triglycerides).
People with FCS are at an increased risk of developing diabetes either because they develop insulin resistance from having to substitute dietary fat with carbohydrates and sugary foods, or because of insulin insufficiency from recurrent bouts of pancreatitis, or a combination of both.
FCS is an autosomal recessive condition, meaning that to have FCS, a person must have two faulty copies of an FCS-causing gene. There are 5 known genes which cause the condition (LPL, LMF1, APO C-ll, APOA5, and GP1HB1).[3] Each of their parents have only one copy of a faulty gene and are usually unaffected by the condition themselves but are ‘carriers’ of the condition. When two carriers have children, each pregnancy has a 25% chance of producing a baby with FCS, a 25% chance of the baby having no faulty genes, or a 50% chance of the baby being themselves a carrier.
Patients can be diagnosed at very different times in their life. Some are diagnosed from birth or in early childhood, while others reach their forties before they achieve a diagnosis. Those diagnosed later in life have usually struggled with unexplained symptoms and can have gone through a long process of misdiagnosis, or of having had their symptoms trivialised, misattributed to alcohol abuse in the case of pancreatitis, or ignored. This process is well known throughout the rare disease community as the diagnostic odyssey.[4] Many of the patients diagnosed as adults have been hospitalised at least once with an episode of acute pancreatitis.[5]
Patients can have varying tolerance to fat, and manifest different symptom burdens, at different times of life. Whilst this appears to be related to the gene variant(s) causing their FCS, to date there has not been any comprehensive research to corroborate this opinion.
Keeping to the dietary restrictions places an enormous burden on people with FCS, who need to be constantly vigilant about what they are eating, and keep in mind what else they have eaten during the day to stay within their fat limit. How difficult this is for an individual can be affected by their cultural background and the role food plays in their society. For many people with FCS, there is very little awareness, education, and information available to support them.
‘Fat’ for people with FCS means all types of fat. Fat from oil, and from the foods from which the oils are derived – for example nuts, seeds, avocados, coconut, and olives. People with FCS can’t eat animal fats, so most meats unless great care is taken about how lean it is and any visible fat is removed. It can often be difficult to judge how much fat is in meat.
No fat from dairy (be aware that fat-free or low-fat products often contains high levels of added sugar), and no fat from egg yolks. For a more comprehensive view of the dietary restrictions you can find dietary guidelines here https://www.actionfcs.org/wp-content/uploads/2020/09/Dietary-Guidance-for-FCS.pdf
Managing the dietary restrictions can have a financial burden – low fat foods can be more expensive to buy – but the impact of FCS can affect the individual’s ability to work and their subsequent income levels. Where people live can also have a great impact. Those in a major city with a wide range of shops close by have more opportunity to find ingredients that are suitable for them from different cuisines while people who live in in small towns or villages may have a more restricted choice.
Added to this mix, Is the level of understanding and support people with FCS get from the friends and family around them, the amount of information they have been given and understand about their condition, their access to a hospital or a doctor who has at least heard of FCS, let alone understands it, and the support they receive from professionals to help them manage the psychological aspect of living with this rare, and largely invisible condition.
Because of the burden of living with FCS, people with the condition are also more likely to struggle with mental well-being. This is partly because of the challenges of keeping to such a severely restricted diet as described above, which can make eating socially extremely difficult and lead to feelings of isolation. Also, they live with the constant worry of pancreatitis and may often feel unwell from physical symptoms associated with FCS and pancreatitis.
We’re calling on you to learn more about FCS and appreciate the challenges that people with FCS face in the attempt to manage their disease and asking you to Take the FCS 10g Fat Challenge You can read more about it on www.actionfcs.org and https://fhef.org/news/take-the-fcs-10g-fat-challenge/
A Story of Resilience, Education, and Advocacy
My name is Maria Nassif, I’m 30 years old, Lebanese living in France.
I got diagnosed with HoFH when I was 3 years old when xanthomas started showing up on various parts of my body - elbows, wrists, knees, you name it. I have a very high LDL level compared to the normal. Instead of the typical 200 mg/dL, mine clocked in at 600 mg/dL. When I was 6 years old, I started taking my daily medicines and doing LDL apheresis. But the results after the apheresis showed my LDL-c remained stubbornly high at 400 mg/dL.
Growing up as a child with xanthomas wasn’t easy, especially as a girl. Everyone kept asking me about those orangey deposits that I have. I wasn’t really able to explain. The only thing I could muster was “It’s because I have eaten lots of sugar”. And of course, none of the children understood either, making them feel discomfort. Some of them were even afraid that whatever I had was contagious and refused to be near me, which affected my personality and self-confidence.
This reveals the importance of awareness both at school and at home, especially for children since they have to live with this rare disease from a very young age without really understanding what’s happening inside their bodies and why they find themselves in the hospital every two weeks with needles in their small veins.
As a student who took the science path at school, I started doing my own research and asking more questions about HoFH until I gained a clear idea in my head about what it is all about.
At 15 years old, I underwent my first screenings (echocardiography and Echo/Doppler tests) prescribed by my doctor. And it transformed into a yearly ritual.
Fast forward to when I was 24 years old. Despite the treatments and the yearly check-ups, I had to undergo open-heart surgery for having the two main coronary arteries blocked – the left one by 90% and the right one by 98%.
My older brother, who shares the same life experience (HoFH and having open heart surgery at 24 years old) became very concerned about his little sister. He put all his efforts to help me go to France because he learned that the medical system there is really advanced when it came to our condition. Another appealing point was the extreme care and honesty the medical staff have towards their patients.
In just two years of undergoing LDL apheresis in France, the xanthomas began to shrink and some even disappeared. Even the results after the apheresis were surprisingly very low (50 mg/dL).
Living with HoFH is quite a journey. As a chronic disease patient, I must be more aware of my diet, take my medicines every day and do my yearly checkups. And like every journey, this one comes with a host of challenges. Mine was sports and physical activities. I always loved to do sports - be it hitting the gym, swimming, playing tennis, volleyball, or dancing. As soon as atherosclerosis started to form, my body was getting tired very easily. My doctors advised me to back out from heavy physical activities. It was a shock for me that later led me down a path of depression. But life should move on. I did some more research on sports for people with CVHDs and Yoga and Pilates were the answer. They don’t only help the muscles stay strong but also calm the body. The breathing exercises regulate the heartbeat which is crucial for people like us. Irregular heartbeats can be mistaken for anxiety/panic attacks since they both have the same symptoms: racing heartbeat, difficulty breathing, dizziness, and insomnia. If left untreated, these issues can cause heart attacks further down the road.
Another unpleasant mental, emotional and physical outcome that arises specially for being a woman, is the challenge of having children. When a woman gets pregnant, her heart beats both for herself and her baby. In my case, that would strain my heart and lead to further complications. Second of all, my baby might be affected by FH so they would have to take medications, follow a strict diet and even face cardiovascular and heart complications. I wouldn’t want to subject a child in more misery in a world that is already challenging. Not to mention carrying and holding the baby and sleepless nights that will definitely make my body more tired.
I call it the silent pain. No one can really see what’s happening inside our bodies, the atherosclerosis in our arteries or the strain on our tired hearts. But I know I’m not the only one. That’s why I advocate for FH and HoFH and the treatments.
FH Europe Foundation Ambassadors have collaborated as part of the European Patients’ Forum (EPF) Taskforce on unmet needs, specifically the definition of 'unmet medical needs' and how it will shape the future of healthcare. This urgent and important issue arose in the context of the reform of the EU pharmaceutical legislation. In the spring of 2023, the European Commission adopted a proposal for a new Directive and a new Regulation, which revises and replaces the existing general pharmaceutical legislation (Regulation 726/2004 and Directive 2001/83/EC) and the legislation on medicines for children and for rare diseases (Regulation 1901/2006 and Regulation 141/2000/EC, respectively).
In a defining moment for pharmaceutical regulation in the European Union, Article 83 of the European Commission's proposal for a Directive on medicinal products for human use introduces the pivotal concept of "unmet medical need."
Over a number of weeks, the international patient advocates community brought together by the EPF, worked together to highlight the need for more inclusive approaches beyond morbidity and mortality. To develop a fair and equitable definition, they wanted to ensure the patient's voice was heard. The Taskforce believes that patients should play an active role in shaping the definition of unmet medical needs as they are the ones directly affected by it. By incorporating their perspectives and experiences, a deeper understanding of the challenges they face and the gaps in healthcare that need to be addressed is gained. Through this collaborative effort, the Taskforce hoped to create a definition that truly reflected the diverse needs of patients and paves the way for a more patient-centred healthcare system.
“If the EU only looked at morbidity and mortality as signs of unmet medical need, they would miss other vital life-changing signs that may need significant therapeutic improvements from a patient's point of view, like how well current treatments are working or how they affect the quality of life”
We thank the Ambassadors involved in this project, ensuring the needs of the community affected with inherited dyslipidaemias are well represented, especially in the context of primary and secondary prevention, quality of life and precision medicine delivery for patients with FH, HoFH, elevated Lp(a) and FCS.
A position paper on this crucial topic prepared by the EFP has now been published.
Read more on the topic: