What Is Familial Chylomicronemia Syndrome?
Familial chylomicronemia syndrome (FCS) is a rare, life-threatening disease that prevents the body from digesting fats. Even a little fat can make someone with FCS ill.
FCS is often misdiagnosed, and patients may experience different signs and symptoms. In this video, Dr. Richard Dunbar, a physician from the University of Pennsylvania, shares his perspective on the patterns of symptoms of FCS that may lead a patient to seek a diagnosis from a healthcare provider.
What Causes FCS?
FCS is a genetic disorder, meaning it is passed down from parents and present from birth.
There are at least six genes known to be associated with FCS, and most mutations occur in the LPL gene. This gene makes a protein called lipoprotein lipase, which helps break down fat in the blood. In people with FCS, a type of fat called triglyceride builds up in the body at very high levels, leading to health problems like pancreatitis.
What Are the Signs and Symptoms of FCS?
A distinctive sign of FCS is extremely high TGs (greater than 880 mg/dL or 10 mmol/l) and blood that appears fatty or milky after it is drawn. Patients often have severe, sometimes daily, stomach pain and often experience back pain.
Because of sustained high TG levels, patients with FCS are also at risk of a painful condition called pancreatitis, which is inflammation of the pancreas. Patients may also experience vomiting and diarrhea. If undiagnosed, FCS can have serious, life-threatening complications.
Other signs and symptoms that patients with FCS may experience are:
- xanthomas (fatty deposits in the skin)
- lipemia retinalis (milky appearance of retinal veins and arteries)
- neurological symptoms (such as forgetfulness, fatigue, or/and memory loss)
Due to its genetic nature, other family members may have symptoms of FCS.
Signs and Symptoms of FCS
Why is a diagnosis so important?
Finding out that FCS is the right diagnosis is important because it may help healthcare professionals make lifestyle recommendations and referrals to specialists, such as a lipidologist.
Receiving a diagnosis [of FCS] was absolutely everything… we finally had a name to call it and we finally had hope.
Why Am I Just Finding Out About FCS Now?
Though FCS is a lifelong condition, the age at which patients first show symptoms, and the types of symptoms they experience, may vary. And, because it is rare, many healthcare providers have never heard of FCS or may not know how to diagnose it.
Other Names for FCS Are: Familial Hyperlipidemia, Familial Hypertriglyceridemia, Lipoprotein Lipase Deficiency (LPLD), Fredrickson Type 1, or hyperlipoproteinemia. It may also be referred to by terms that are not specific, such as a genetic lipid, TG, or fat disorder.
Dr. Rader, a Lipidologist from the University of Pennsylvania, offers an overview of FCS, Management, and the need to increase awareness in the patient and healthcare communities.