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.

What Causes FCS?

FCS is a genetic disorder, meaning it is passed down from parents and present from birth. With FCS, the body can’t digest fats, such as triglycerides (TGs).

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

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.