FCS: A life-limiting condition

GP Karishma Patel tells us about the daily challenges of living with the ultra-rare condition Familial Chylomicronaemia Syndrome (FCS), which prevents the body from breaking down fats.

My name is Dr Karishma Patel and I am a GP with an ultra-rare genetic condition called Familial Chylomicronaemia Syndrome (FCS). I was diagnosed with FCS at birth. On the newborn heel prick test the sample of blood was lipaemic and a yellow-straw colour, so the doctors immediately knew there was something wrong. Further tests revealed a triglyceride level of above 200mmol/L (normal < 1.7 mmol/L).

People with FCS are unable to metabolise fat properly, resulting in a build-up of lipids (called triglycerides) in their blood. This build-up of triglycerides causes many symptoms including severe abdominal pain, recurrent attacks of acute pancreatitis which can be fatal, eruptive xanthomas (fatty deposits on the skin), hepatosplenomegaly (an enlargement of the liver or spleen), memory impairment and fatigue. Some people go on to develop diabetes due to the recurrent stress and damage that the pancreas undergoes.

There is currently no cure for FCS and patients must follow a very strict diet of 10-20g of fat a day. I find that I must eat less than 15g per day to manage my symptoms. To put this in context, just one avocado is about 25g of fat.

Not only am I affected by FCS, but my family and friends have been very affected by the condition too. When I was first diagnosed, it was very hard for my parents as there was very little information about FCS; even the paediatrician said that this would be a “learning curve” for him as he had not encountered such high triglyceride levels before. My parents were even told to expect the worst as the doctors were unsure of my life expectancy. My mum was told to stop breastfeeding immediately and instead my parents were given a prescription milk to use with vitamin supplementation.

In the 1990s, the labelling on food packaging did not contain the fat content or nutritional information, so my mum would study the ingredients to work out whether the food was “safe” or not, and on numerous occasions she would  write to  the manufacturer of the product to  ascertain the ingredients/fat content in the food. All of our family holidays were self-catered to ensure the low-fat diet was adhered to. Even now the enjoyment of travel is coupled with strain as explaining to people what I can/ cannot eat is difficult and my requests can often be ignored or not understood. Managing travel delays is tricky as there is usually nothing suitable around for me to eat.

The most worrying time for my parents was when I was in my mid-20s. I was working full time as a junior doctor and found it very hard to be organised with supermarket shopping and meal planning due to the antisocial shift pattern and the long hours. Despite strict adherence to my low-fat diet, I was being admitted to hospital every eight weeks for severe abdominal pain (requiring morphine analgesia) or pancreatitis. This, apart from being the most painful thing I have ever experienced, was extremely unsettling as I would only have short periods of time when I had no abdominal pain. I became depressed and I found it embarrassing to be admitted to the hospital – my place of work – and frustrated with myself that I could not stay well despite how restricted my diet was.

Now at the age of 31, I feel I have reached a period of stability with my FCS, thanks to working closely with my doctor to find solutions that help me manage the symptoms. I have made an active choice to only work three days a week so I can focus on my health.

I still have constant anxiety around food, and my social life is severely impacted by the dietary restriction. I avoid most social events as they are usually centred around food and drink, and I feel guilty when I let friends or family down at short notice because I have abdominal pain or feel fatigued.

It is extremely difficult to live with a rare disease, especially one which people cannot see. I often get told by people, “Oh, at least you will always be thin”.

Looking towards the future, I am becoming more confident in my health which has enabled me to travel more. During my 20s I never considered pregnancy, as my FCS was so poorly controlled, but now I feel more equipped to manage the condition and I can consider having a family of my own.

I feel fortunate that I was diagnosed at birth as I have always known that I am not to eat fatty foods; I can only empathise with those who have had to change their diet and have those things taken away from them when diagnosed at a later stage. For many patients, FCS is not diagnosed until later in life, usually after multiple attendances to A&E for recurrent attacks of pancreatitis. One of the main ways to help diagnose FCS is through a simple blood test for triglyceride levels, however, this test is not routinely taken in this setting. Awareness of the condition still seems low, so making a new diagnosis is difficult and requires specialist input from a Lipidologist.

Due to the limited availability of treatments in Europe, there seems to be no agreed information about how to manage the condition, other than stick to a 10-20 g fat a day. Even this is an art as there is variability between what patients can tolerate in terms of dietary fat. Once you are diagnosed, there can also be conflicting advice from dieticians and consultants.

For anyone newly diagnosed with FCS, I think they should be positive and confident that with access to the right support, they can live a happy and healthy life. There is a lot more information available now about FCS than when I was first diagnosed – and even an annual FCS Awareness Day on the 1 November. The most helpful thing I came across was the LPLD Alliance Charity (www.lpldalliance.org) as it gives practical tips on how to live with the condition and puts you in touch with other patients so that you are no longer alone.  I am now happy to be a trustee of the charity. It makes a big difference to me knowing others are facing the same difficulties that I am.  It’s a great source of psychological support, which I feel is often  overlooked as it’s difficult for non-sufferers to understand the relentless daily burden that FCS imposes on our lives.

With editorial support funded by Akcea Therapeutics UK Ltd.