Familial Chylomicronemia Syndrome (FCS) is a rare genetic disorder that prevents the body from digesting fats, causing a build-up of triglycerides (TGs) and dietary fats in the body.
Even a little fat can make someone with FCS ill. Often misdiagnosed, FCS patients may experience different signs and symptoms. A distinctive sign of FCS is extremely high triglyceride levels and blood that appears fatty or “milky” when drawn. Other Familial Chylomicronemia Syndrome symptoms include severe, sometimes daily, abdominal pain and back pain.
When the body can’t digest fats and high TG levels are sustained, FCS patients are at risk for pancreatitis.
A painful condition, pancreatitis is inflammation of the pancreas. Left undiagnosed, FCS can have serious, life-threatening complications.
Other Familial Chylomicronemia Syndrome (FCS) signs and symptoms include:
- Fatty deposits in the skin
- Milky appearance of retinal veins and arteries
- Neurological symptoms, such as forgetfulness, fatigue, depression, and/or memory loss
- Numbness in feet or legs
Despite its rarity, FCS affects an estimated 3,000 to 5,000 people worldwide.1
Because there is still a high unmet medical need to treat Familial Chylomicronemia Syndrome (FCS), maintaining low-fat diets are the primary way people manage their disease.
FCS is also called:
lipoprotein lipase deficiency (LPLD), Fredrickson Type 1, hyperlipoproteinemia, and familial hyperlipidemia.