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Familial Chylomicronemia Syndrome (FCS)

WHAT IS FAMILIAL CHYLOMICRONEMIA SYNDROME (FCS)?

Familial chylomicronemia syndrome (FCS) is sometimes known as lipoprotein lipase deficiency (LPLD), Fredrickson Type 1 hyperlipoproteinemia, or familial hypertriglyceridemia.

It is a hereditary, serious disease that prevents the body from breaking down fats. Because it is rare, many healthcare providers have never heard of FCS or may not know how to diagnose it.

At Loma Linda University Health, we treat more pancreatic disorders than any other center in the region. Our board certified specialists are capable of diagnosing and treating this rare disease, in addition to other pancreatic and biliary conditions.

WHAT ARE THE SYMPTOMS OF FAMILIAL CHYLOMICRONEMIA SYNDROME (FCS)?

If eating even a little fat makes you ill, this may be a sign that you have familial chylomicronemia syndrome. The most common reported symptoms of FSC include:

  • High levels of triglycerides in the blood
  • Veins in the eyes appear “milky” (referred to as lipemia retinalis)
  • Memory loss or “foggy-headedness”
  • Severe pain in the abdomen often including back pain
  • Acute or chronic pancreatitis
  • Fatty deposits in the skin referred to as xanthomas

Less common symptoms of FCS include:

  • Vomiting
  • Diarrhea
  • Numbness in the feet or legs
  • Blood that appears “milky” when drawn

WHAT CAUSES FAMILIAL CHYLOMICRONEMIA SYNDROME (FCS)?

FCS is caused by having high triglycerides in the blood, for those who have inherited this genetic disorder from one or both parents.
 

HOW IS FAMILIAL CHYLOMICRONEMIA SYNDROME (FCS) DIAGNOSED?

FCS can be diagnosed clinically, but there is no single test to diagnose it. Frequent attacks of pancreatitis, along with extremely high triglyceride levels, may suggest that FCS is the cause. Physicians may look for:

  • A history of abdominal pain
  • Acute or chronic pancreatitis
  • High triglyceride blood count, referred to as hypertriglyceridemia
  • Diabetes or other conditions that are known to cause hypertriglyceridemia
  • Medications that are known to cause hypertriglyceridemia
  • The absence of secondary causes, such as excessive alcohol intake

Diagnosis of familial chylomicronemia syndrome (FSC) is crucial for receiving appropriate care.

HOW IS FAMILIAL CHYLOMICRONEMIA SYNDROME (FCS) TREATED?

Familial chylomicronemia syndrome (FCS) cannot be cured, but it can be managed. To manage FCS, doctors tell patients to:

  • Avoid alcohol
  • Eat a fat-free diet
  • Limit sugar intake and simple carbohydrates (like those found in fruit, sodas or candy)
  • Eat a healthy diet
  • Eat small, frequent meals
  • Take appropriate supplements (fatty acids, vitamins A, D, E, and K)
  • Take minerals and medium chain triglycerides
  • Avoid drugs known to increase triglyceride levels (these include diuretics, steroids, estrogens, high blood pressure medications, medications that suppress the immune system, antidepressants, some heart medications, and fish oil supplements). At Loma Linda University Health, patients are advised to only adjust their medications only as directed by their physician.

There are currently no FDA-approved treatments for FCS. However, gene therapy may be an option for some patients.

WHAT ARE THE COMPLICATIONS OF FAMILIAL CHYLOMICRONEMIA SYNDROME (FCS)?

If left untreated, the most serious complication of familial chylomicronemia syndrome (FCS) is pancreatitis caused by extremely high triglyceride levels. The majority of patients with FCS experience pancreatitis. Of those, many will experience recurrent attacks. Pancreatitis can be extremely painful and can lead to long-term organ damage or insulin-dependent diabetes.

Further complications, if left untreated, are chronic symptoms. This can lead to potentially fatal pancreatitis.

WHO IS AT RISK FOR FAMILIAL CHYLOMICRONEMIA SYNDROME (FCS)?

People at risk of developing FCS have a family history of familial chylomicronemia syndrome. It may not have been diagnosed in either parent.

NEXT STEPS

  • Stay aware. If you have high levels of triglycerides in the blood or pancreatitis, you may be in the risk category for FCS. Seek medical attention immediately if you begin experiencing any symptoms, and implement any lifestyle changes needed to reduce your risks. Eliminating alcohol use and adjusting fat consumption are both risk factors that can addressed through lifestyle change.
  • Seek medical intervention. If left untreated, FCS can lead to very serious complications. To request an evaluation at Loma Linda University Health for  symptoms, contact your provider or schedule the appointment through MyChart.