Familial chylomicronemia syndrome: frequently asked questions
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FCS resources and FAQs

Create your healthcare team and get support

It is important that you have the right healthcare providers on your team. Remember, you are your own best advocate! Learn what to expect from each type of provider. It will help you know who can best answer your questions and concerns.

A holistic approach to care is essential and that means supporting your mood and connecting with others. You are not alone; connect and support others with familial chylomicronemia syndrome (FCS). Patients benefit from sharing their experience with others who understand and care. Connect today.

Patients with FCS often feel isolated and alone. Misdiagnosed for years, patients may suffer from anxiety and guilt. FCSFocus.com is designed to empower patients with FCS by providing resources and tools to live a balanced and fulfilling life, despite daily challenges.

My advice to a newly diagnosed patient and their family is not to give up. How you feel today isn’t how you are going to feel for the rest of your life.

Create Your Team

Your healthcare team may include:

  • Primary care physician: an MD specializing in family practice, pediatrician or internal medicine
  • Lipidologist: an MD specializing in the prevention and management of dyslipidemia—cholesterol and other lipid disorders
  • Endocrinologist: an MD specializing in the management of diseases of the endocrine system
  • Gastroenterologist: an MD specializing in the management of diseases of the gastrointestinal tract and liver
  • Pancreatologist: an MD who provides care for patients with acute, recurrent and chronic pancreatitis
  • Registered dietitian: the critical team member to educate about food choices and diet requirements

You may also see an ophthalmologist (eyes), hepatologist (liver), geneticist (genes) and a cardiologist (heart).

Use the checklist below to mark your symptoms and the frequency with which you experience them (i.e., daily, weekly, monthly or note certain hours of the day). Refer to this resource when speaking to your doctor about symptoms you are experiencing and how frequently they are occurring.

FCS Daily Symptom Tracker

FAQs

Frequently Asked Questions
1. What tests are done for pancreatitis and how does it affect my triglyceride, amylase and lipase levels?

During a pancreatitis attack, triglyceride, amylase and lipoprotein levels are evaluated by blood and/or urine tests. You may also have an MRI, CT or ultrasound done to check for inflammation of the pancreas.

While it is rare, it has been documented that patients experiencing pancreatitis as a complication of familial chylomicronemia syndrome (FCS) have normal levels of amylase and lipase.1 It is thought that because triglyceride levels are so high, they interfere with the accuracy of the test.3 It is critical that you communicate an FCS diagnosis to your healthcare providers during all encounters so the correct diagnosis can be made.

High triglycerides are the third leading cause of pancreatitis, although it is not fully understood how they are related. It may be due to the increased concentration of chylomicrons in the blood. These may trigger inflammation that activates digestive enzymes in the pancreas.3 However, some people with high triglycerides rarely have pancreatitis; others experience it more frequently. Other causes of pancreatitis include gallstones and excessive alcohol consumption.

2. What is the difference between acute, recurrent acute and chronic pancreatitis?

Patients with FCS may be told they have acute, recurrent or chronic pancreatitis. Acute pancreatitis occurs suddenly and may result in complications and hospitalizations. Recurrent pancreatitis is when you have repeated attacks of acute pancreatitis.2 Chronic pancreatitis also causes sudden and severe pain, but the difference is that the patient will have permanent loss of pancreatic function and organ damage.

3. Why is it so hard to diagnosis FCS, how is it diagnosed and is there a test for it?

FCS is present at birth because it is a genetic condition. However, the age of onset and symptoms vary from patient to patient. This is also the reason it is very difficult to diagnose FCS. Doctors don’t have a quick and simple test that can tell you if you have FCS.They may evaluate absence or low activity of the enzyme lipoprotein lipase through a blood sample.5

Some people have noticeable FCS symptoms when they are young, such as failure to thrive, colic and abdominal pain. For others, it may show up when they become pregnant. Still for others, they may not get symptoms until adulthood. This may be due to environmental and lifestyle factors, such as dietary fat intake, alcohol consumption, tobacco usage and level of activity or exercise.

4. What are common signs and symptoms of FCS?

The first clinical sign of FCS is often a blood draw that appears “milky” because of the high concentration of triglycerides.3 The first symptom a patient may experience is severe abdominal pain. Other signs, symptoms and complications include:

  • Frequent abdominal and back pain
  • Vomiting or diarrhea
  • Numbness in feet or legs
  • Forgetfulness
  • Fatigue
  • Lipemia retinalis (milky appearance of retinal veins and arteries)
  • Pancreatitis (inflammation of pancreas)
  • Hepatosplenomegaly (swelling of liver and spleen)
  • Neurological symptoms (depression, memory loss)
  • Xanthomas (fatty deposits in the skin)
5. Since FCS is genetic and I have received an FCS diagnosis, can other members of my family also have FCS?

FCS is an autosomal recessive genetic trait, like red hair or blue eyes. That means it can only occur if you inherit a mutated, or “bad,” gene from both parents. If genes inherited from just ONE parent are “bad”, then you will not show symptoms of FCS.

If both your mother and father are genetic carriers who are not affected by the disease, you have a 25 percent chance of getting the disease. You have a 50 percent chance of being an unaffected genetic carrier and you have a 25 percent of not being affected and not being a carrier.

If you have siblings, they have the same chance that you had to receive both genes, which means that they may or may not have FCS. Therefore, your immediate family, including parents, brothers or sisters, and children, should see a specialist if they have high triglycerides or show other signs and symptoms of FCS.

If you have FCS, there is a chance that any children you have may also have the condition or they will be carriers for the gene. Being a carrier means that they carry a “bad” gene, but will be unaffected. This resource helps explain different levels of risk for autosomal recessive conditions.

Learn more about genetic diseases and how to discuss genetic diseases with your loved ones.

6. What range is considered normal for triglycerides? What affects my triglyceride levels? Can I ”cheat” on my diets if my levels are in check?

Normal triglyceride levels are <150 mg/dL (1.7 mmol/l). Patients with FCS may have severely elevated triglyceride levels, up to 10,000 mg/dL (113 mmol/l or more). However people with “normal” triglyceride levels can develop pancreatitis and people with high triglyceride levels may never develop pancreatitis. If you have received an FCS diagnosis, work with your healthcare team to determine the right level for you.

There are many things that can increase triglyceride levels,3 including:

  • Medical conditions: Hypothyroidism, uncontrolled diabetes and others
  • Diet: Food high in fat, even healthy fats such as avocados and certain nuts
  • Prescription medicines: Commonly prescribed drugs, such as estrogen, beta-blockers and some medications for mental illness 4
  • Genetics: There are several genetic disorders that cause the body not to be able to digest fats
  • Pregnancy: Triglyceride levels may fluctuate in the 3rd trimester of pregnancy

It’s very important to avoid alcohol if you have been diagnosed with FCS. Alcohol has been shown to cause triglyceride levels to increase.5

Because it is difficult to maintain any diet, but especially an extremely low-fat diet, people with FCS can approach the restrictions as a lifestyle change, not a diet. It is important to not dwell on the bad items, but rather focus on exploring new foods or making a low-fat diet interesting and different. If it’s a lifestyle change, it may be easier to look at taboo food/drink not as something to “indulge” in.

7. What are triglycerides? What is a chylomicron?

Triglycerides are a type of fat found in the blood that bodies use for energy. Triglycerides are packaged as chylomicrons. The number of chylomicrons in your blood increases after you’ve eaten and then goes back down as part of the normal digestion process. Chylomicrons are large and bulky, and this design enables travel through the bloodstream.

8. There are lots of food options that claim “healthy” fats. Why can’t I eat healthy fats?

The most important and beneficial first step to managing FCS is adhering to a very low-fat lifestyle, which means consuming around 20 grams of fat per day. When you have FCS, the body can’t break down “healthy” or “unhealthy” fats; it’s all the same. 

So, what’s safe? Medium Chain Triglyceride oil is a medical food that is easy for the body to digest. While it is derived from coconut and palm oils, the difference is in how it is processed in your body. MCT oil does not increase triglycerides and does not form chylomicrons.

9. Does FCS cause cardiac disease?

High cholesterol with high low-density lipoprotein (bad cholesterol) in particular is a well-known risk factor for heart disease. Even though FCS patients have severely high levels of triglycerides, they do not appear to be at a higher risk for cardiac disease. It is thought that the chylomicrons are too large to enter the arteries.

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