Familial chylomicronemia syndrome: signs and symptoms

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About familial chylomicronemia syndrome (FCS)

FCS and triglycerides

What is Familial Chylomicronemia Syndrome?

Familial chylomicronemia syndrome (FCS) is a genetic condition where the body can’t digest fats, such as triglycerides. A distinctive sign is blood that appears fatty or “milky” after a blood draw. Patients often experience severe stomach pain and even pancreatitis. It has many different names—lipoprotein lipase deficiency, Fredrickson Type 1, hyperlipoproteinemia and familial hyperlipidemia. It is a type of lipid disorder that often goes undiagnosed with serious complications.

What are High Triglycerides?

Triglycerides are a type of fat or lipid in our bodies. Normal triglyceride levels are <150 mg/dL or 1.7 mmol/l. People with FCS have extremely high triglyceride levels that may rise up to 10,000 mg/dL (113 mmol/l) or more even after medication and/or a low-fat diet. Hypertriglyceridemia (high triglycerides) is the third leading cause of pancreatitis.

Blood often appears “milky” or fatty, one of the most distinct signs of FCS
Signs and Symptoms of FCS

FCS is genetic, which means it is always with you. Patients have varying symptoms and can be diagnosed while young or later in adulthood. Signs and symptoms may include:

Blood often appears “milky” or fatty, one of the most distinct signs of FCS
  • Pain in the abdomen, often with back pain
  • Extremely high triglycerides
  • Frequent or chronic pancreatitis
  • “Milky” blood

Signs and Symptoms of FCS

Other signs and symptoms may include:

  • Vomiting or diarrhea
  • Numbness in feet or legs
  • Forgetfulness
  • Fatigue
  • Lipemia retinalis (milky appearance of retinal veins and arteries)
  • Hepatosplenomegaly (swelling of liver and spleen)
  • Neurological symptom such as depression or memory loss
  • Xanthomas (fatty deposits in the skin)

Receiving a diagnosis [of FCS] was absolutely everything… we finally had a name to call it and we finally had hope.

Symptoms of FCS are common to many conditions, so your doctor will ask questions to rule out other causes. Your healthcare provider may ask you questions about:

  • Your diet
  • How much you exercise
  • If you drink
  • If you smoke
  • What medications you take
  • What other health conditions you have
  • If anyone in your family has a history of high triglycerides or another lipid disorder
FCS and High Triglycerides

Foods high in fat and simple carbohydrates either contain or increase a type of fat called triglycerides. After eating, triglycerides are packaged in structures called chylomicrons. These structures allow fats to travel through the bloodstream to be used as energy. An enzyme, lipoprotein lipase, breaks down chylomicrons so they can be used by the body for energy. People who have FCS are unable to process fats because lipoprotein lipase is missing or broken. This allows chylomicrons to accumulate and increase triglyceride levels. Sustained high triglyceride levels may increase the risk of pancreatitis.

FCS and High Triglycerides

High triglycerides can also be caused by diet, lifestyle factors, medications, other medical conditions, pregnancy, smoking and alcohol consumption

Lipoprotein lipase breaks down bulky chylomicrons

High triglycerides can also be caused by diet, lifestyle factors, medications, other medical conditions, pregnancy, smoking and alcohol consumption

Without lipoprotein lipase, chylomicrons accumulate in the blood

Other Causes of High Triglycerides

Many other conditions can cause high triglycerides. Your healthcare provider will ask questions about medications and lifestyle habits, such as:

  • Medical conditions, such as hypothyroidism and uncontrolled diabetes
  • Foods you consume, such as bacon, butter and almonds
  • Pregnancy
  • Commonly prescribed medications, such as estrogen, beta blockers and some medications for mental illnesses
  • Smoking and alcohol consumption

FCS and pancreatitis

Causes of Pancreatitis

Hypertriglyceridemia (high triglycerides) is the third leading cause of pancreatitis. Some people with high triglycerides rarely get pancreatitis; others may experience recurring pancreatitis. Some doctors think that chylomicrons cause digestive enzymes to attack the pancreas resulting in injury to the pancreas. It is important for those with FCS to recognize the symptoms of pancreatitis.

Patients with familial chylomicronemia syndrome may experience recurring bouts of pancreatitis

Patients with FCS may experience recurrent attacks of pancreatitis, which can be extremely painful. Repeated attacks of pancreatitis may lead to long-term organ damage, insulin-dependent diabetes or even death.

Pancreatitis Facts
  • Pancreatitis is inflammation of the pancreas. It occurs when the digestive enzymes become activated while still in the pancreas.
  • Patients with FCS may experience recurring episodes of pancreatitis that may cause lasting damage to the pancreas or chronic pancreatitis.
  • Doctors do not know why some people with high triglycerides get pancreatitis while others never do.
Pancreatitis Symptoms

Each attack of pancreatitis can be severe and life threatening. Here are the signs and symptoms:

  • Severe abdominal pain, often with back pain
  • Tender abdomen
  • Pain that is worse after eating
  • Nausea/vomiting
  • Fever
Develop an Emergency Plan

Because patients with FCS often suffer from recurrent or chronic pancreatitis, developing an emergency communication plan with your doctor can help you manage during an attack.

My doctor and I have a plan that aims to prevent pancreatitis and intervene if it’s unavoidable…This means I don’t have to go to the emergency room.

Step 1: Your FCS Care Notebook

Prepare an “ FCS care notebook ”, especially if you have an FCS diagnosis and a history of pancreatitis.

It should include:

  • Your medical records
  • A note from your doctor saying you have received an FCS diagnosis
  • FCS facts and information—FCS is not well known so educate your doctors and nurses
  • A list of current medications

If your emergency room doctors know you have an FCS diagnosis, they may:

  • Check your triglyceride levels
  • Address your symptoms and start appropriate medical care
Step 2: Tests and Diagnosis

To diagnose pancreatitis, doctors order a blood or urine test looking for elevated levels of two digestive enzymes—amylase and lipase.

Communicate with Your Healthcare Professional: People with FCS can have normal levels of amylase and lipase, even when suffering from pancreatitis. Some doctors think this is because the triglyceride level is so high. It’s CRITICAL to communicate your FCS diagnosis to all healthcare providers during all encounters.

Emergency room doctors may ask questions to confirm a pancreatitis diagnosis, such as:

  • What have you eaten lately?
  • How much alcohol have you consumed in the past few days?
  • What is your pain level?
  • Have you vomited?
  • Do you have pain in your abdomen and/or lower back?
  • Have you had pancreatitis before?
Step 3: Treatment and Management

You may take several days to several weeks to recover from pancreatitis. Standard treatment often includes hospitalization and the following:

  • IV fluids for hydration
  • Pain medication
  • No food until symptoms resolve
  • Using other therapies to lower triglyceride levels, if indicated
Step 4: Follow-up Visit

Let your primary care physician know you had to go to the emergency room. If you are hospitalized for pancreatitis, be sure that all your doctors are aware so you receive the proper follow-up treatments.


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Patient Resources

Visit these organizations for further advocacy and education resources.

The FCS Foundation

The Foundation of the
National Lipid Association