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 10 mmol/L or 880 mg/dL) 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 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.
One of the most frustrating experiences of dealing with FCS is the fact that this illness remains relatively unknown, even in the medical community. I found that I had to explain a lot to my healthcare providers and I was often taking on the role of ‘doctor’. Often times I was treated like an outsider by new doctors because FCS was not something they had heard of before.
– Cynthia, 41, Psychologist
Other Names for FCS Are:
Chylomicronemia syndrome, Familial chylomicronemia, Hyperlipidemia Type 1, Lipoprotein lipase deficiency (LPLD), Burger-Grutz syndrome, or Hyperlipoproteinemia Type 1A.3 It may also be referred to by terms that are not specific, such as a genetic lipid, TG, or fat disorder.