Familial Chylomicronemia Syndrome (FCS), also known as Familial lipoprotein lipase (LPL) deficiency, is a rare genetic hyperlipidemia disease in which mutated LPL genes fail to break down fats in the blood. This causes an unhealthy build up of fat particles, called chylomicrons.
FCS is caused by a loss of the LPL encoding lipoprotein lipase which can lead to build up of fats in the blood. It can lead to a variety of symptoms including abdominal pain, enlargement of the liver and spleen, inflammation of the pancreas (pancreatitis), (hepatosplenomegaly) and small yellow skin lesions called eruptive xanthomas.
Symptoms may occur at any age, however most occur within specific age ranges, so knowing when exactly symptoms began to appear can assist with diagnosis.
FCS typically develops between the ages of 1-10, with a quarter of those experiencing symptoms within the first year. Children may be asymptomatic with later onset of symptoms that may ultimately result in failure to thrive.
Types of symptoms and the severity can vary from person to person, the most common include:
If left untreated FCS can develop into recurrent episodes of:
Although there is no cure for Familial Chylomicronemia Syndrome (FCS), modern treatment techniques can help patients manage symptoms exceptionally well. Some diagnosed with FCS can live up to 60 years via careful management of diet, exercise and lifestyle choices.
The main focus of treatment for FCS is fat reduction, with the goal of reducing total fat to 10% of daily caloric intake, or 20grams per day, in combination with exercise and avoiding processed foods, smoking and drinking alcohol.
In addition to the strict fat free diet, you will also be advised to stop smoking, and taking certain medicines that can make symptoms worse.
Unfortunately, standard lipid-lowering medications are ineffective against FCS. However Volanesorsen, an apo C-III antisense oligonucleotide, is available in the EU, and whilst it is not currently available in North America, similar agents are in development.
Both dehydration and diabetes can greatly increase the severity of symptoms worse, therefore you’ll also be advised to drink lots of water and eat healthily at all times.
Common symptoms include:
Abdominal pain, fatigue, eruptive xanthomas (fatty pimples under skin) on the body and buttocks.
Visiting a doctor is advisable when any symptoms of FCS appear. Presentation to ER may also be required when patients experience abnormal abdominal pain or when any other warning signs of pancreatitis occur.
Yes, some patients have lived for 60 years following initial diagnosis simply by adhering to a strict diet.
FCS is reported to affect between 1 in 100,000 to 1 in 1,000,000 people in the USA and Europe.
In addition to reading medical literature surrounding the treatment and management of FCS, speaking to others who live with the condition can be invaluable when it comes to recovery. Not only can you learn new ways of managing symptoms, you’ll also gain a sense of shared positivity and determination from connecting with others dealing with the same everyday hurdles.
Talk to your doctor about finding local support groups and/or forums online where those living with FCS share their experiences.