How were you diagnosed with Familial Chylomicronaemia Syndrome? 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 immediately the doctors knew there was something wrong. Further tests revealed a triglyceride level of above 200mmol/L (normal < 2.3 mmol/L).
How did your parents cope?
At the time of diagnosis it was very hard for my parents as there was no information available on the condition, and even the paediatrician said that this would be a “learning curve” for him as he had not encountered such high triglyceride levels before.
My mum was told to stop breastfeeding immediately and instead my parents were given a prescription milk to use. There were also additional vitamin supplements that were crushed and added to the milk.
As I grew older, the labelling on food packaging in the 1990s did not contain the fat content or nutritional information, so my mum would study the ingredients and even write to the manufacturer of the product to ascertain the ingredients/fat content in the food.
For everyday school meals, my mum would meet with the school dinner lady once a term to plan my menu. If there was a school trip, my mum would again discuss with the dinner lady what food I would have and provide snacks like baked apple crisps for me to take. All of our family holidays were self-catered to ensure the low fat diet was adhered to.
The most worrying time for my parents was when I was in my mid-20s. I started to work 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. I was being admitted to hospital every 8 weeks for severe abdominal pain or pancreatitis. My parents would worry whenever the phone would ring that it was because I was unwell.
How do you manage the condition?
I find it extremely difficult to manage the condition as it requires relentless meal planning and organisation. This is particularly difficult to do when you work long hours in a stressful job. I have tried to mediate this by working less hours part-time as a GP, as I found that when I got stressed and/or tired I would crave fatty snack foods or try and eat at the hospital canteen which inevitably meant that what I was eating would have more fat than I could manage. I try to stick to a maximum of 15g a day of fat intake as anything more tends to give me severe abdominal pain.
What do you find the most difficult aspect?
The lack of spontaneity around eating out and feeling socially isolated as I cannot participate in as many social events as I would like. I feel guilty when I let friends down for social arrangements at short notice because I have abdominal pain.
Have you received any treatment?
I have tried numerous treatments over the years, including statins, fenofibrate, nicotinic acid, omega 3 and injectable insulin – none of which worked to reduce my triglyceride levels.
How many times a year roughly does the condition cause you go to hospital?
When I was working full time as junior doctor I was in hospital every eight weeks. These admissions would range from two night stays to two weeks. I have also been admitted to HDU three times.
Is it hard to have a very rare illness that not many people are aware of?
It is extremely difficult to live with rare disease, especially one which people cannot see. I often get told by people that “oh at least you will always be thin”.
Have you been told about any clinical trials, and would you consider taking part? I have been told about clinical trials and would happily participate as I think it’s very important to find effective treatments to help make FCS more manageable to live with.
Do you think the depth and quality of information offered to FCS patients is adequate?
When I was first diagnosed there was no information available but this has improved considerably. I think there still needs to be further education – particularly with regards to the diet and information given by dieticians. The most helpful thing I have come 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. It makes a big difference knowing others who are facing the same difficulties that I am.
What advice would you give to somebody recently diagnosed with the condition?
Get into good habits early by looking at the labelling on packets of food, learn to cook and be organised about planning meals every single day of every week. Explain to people what the condition is and how important it is that you do not eat fat, and that extras like salad dressings, olive oil, butter etc are forbidden. Don’t let anyone make you feel like you are being fussy or that you are a burden.
What do you consider your biggest achievement to date?
Qualifying and working as GP.
What has been your biggest frustration?
Other than not being able to partake socially in events, I am frustrated with myself when I eat foods that I know have higher fat content in them – either because I haven’t got something low fat to hand or I just want to feel normal and eat something new and exciting in a restaurant. I then feel angry with myself for not having more willpower and anxious that I might soon be in pain which I have self-inflicted.
What are your hopes/fears for the future?
I fear that without an effective treatment, I will struggle with my triglyceride levels in pregnancy and therefore may make the conscious decision to not have children at all.
I also would love to travel the world but without effective treatment travelling abroad is near impossible.
Familial chylomicronaemia syndrome (FCS) is a rare genetic disease characterised by the build-up of chylomicrons lipoproteins, which are responsible for transporting dietary fat and cholesterol. Under normal circumstances the enzyme lipoprotein lipase breaks down chylomicrons in the blood, but in patients with the condition it does not function properly, leading to a significant – sometimes tenfold – increase in triglyceride levels, even with medication or a low-fat diet.
Symptoms of the condition can include pancreatitis, which causes debilitating pain and can be fatal, eruptive xanthomas (fatty deposits on the skin) lipemia retinalis (milky appearance of retinal veins and arteries), abdominal pain, and hepatosplenomegaly (an enlargement of the liver or spleen). Patients often report feeling fatigued, lacking energy, having impaired cognition and numbness/tingling.
There are no approved therapies for the treatment of FCS; management of the condition focuses on significantly reducing dietary fat.
