What is Familial Chylomicronemia Syndrome

Familial Chylomicronemia Syndrome, (shortened to FCS) is a problem of very high triglycerides (a type of fat) in the blood. Most triglycerides come from the diet. In FCS, 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 pancreatitis, a painful and sometimes fatal inflammation of the pancreas. The pancreas is an organ deep in the upper part of the belly that makes digestive enzymes and insulin.

Symptoms of FCS

Although FCS is a genetic (inherited) condition, genetic testing is not needed to make the diagnosis. People with FCS can have several symptoms, and these may show up early in childhood or later on such as during pregnancy. A person can often have severe symptoms before FCS is ever diagnosed. 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 drinking, unmanaged diabetes, or some medicines, along with the rareness of the disease, means that FCS is often not diagnosed or not diagnosed correctly. It is extremely important to connect with a Lipid Specialist who is trained in managing blood lipids if you have any questions or concerns.