What is Familial Chylomicronemia Syndrome

Familial Chylomicronemia Syndrome, (abbreviated FCS) is a condition of very high triglycerides (a type of fat) in the blood which come from the diet. The enzyme that breaks down triglycerides from the diet is absent or does not work well, causing triglyceride levels in the blood to build up.

High triglycerides in the blood can cause episodes of pancreatitis, a painful and potentially life-threatening inflammation of the pancreas.

Symptoms of FCS

Although FCS is a genetic (inherited) condition, genetic testing is not required. Symptoms can vary and the age at which symptoms occur may vary. An individual can often have severe symptoms before FCS is ever diagnosed. Several identifiable symptoms can include:

  • Triglyceride levels in the blood over 750 mg/dL (normal triglyceride levels are under 150 mg/dL) and usually in the thousands.
  • No reason, other than genetics, present for the high triglycerides. For instance: no poorly controlled diabetes, no diet high in sugar or fat, no low thyroid or kidney disease.
  • Episodes of pancreatitis, often starting in childhood.
  • Triglyceride levels that remain high despite taking the standard medications for triglycerides (fibrates, fish oil dietary supplements or prescription omega-3).
  • Breakouts of yellowish or white bumps over elbows, buttocks, feet, and trunk (seen when triglycerides are over 2000 mg/dL).
  • Stomach pain, confusion, trouble breathing, and numbness or tingling in hands and feet.

The fact that high levels of triglycerides can be associated with other health issues, such as alcohol consumption, unmanaged diabetes, or various medications, combined with the rareness of the disease, FCS is often misdiagnosed or remains undiagnosed. It is extremely important to connect with a Lipid Specialist who is trained in managing blood lipids if you have any questions or concerns.