A problem that many people have these days is the increase in fats such as cholesterol and triglycerides in the blood. But sometimes these fat levels, especially triglyceride levels, are abnormally high, thousands of times higher than normal. The reason for this may be a very rare genetic condition that is passed down from parents. Today we are talking about one such condition, Familial Hyperchylomicronemia Syndrome, or FCS for short. Although this is a somewhat complex topic, let's understand it simply.
Simply put, what is FCS?
FCS is a very rare genetic condition that you inherit from your parents. A person with this condition has an inability to break down, or digest, fats, especially triglycerides .
Imagine that our bodies have a little factory that breaks down fat. In medical terms, this is an enzyme called lipoprotein lipase (LpL) . In someone with FCS, this 'factory' doesn't work properly, or it doesn't work at all.
As a result, the fat in the food we eat, called triglycerides, cannot be absorbed by the body and instead accumulates in the blood as fat droplets called chylomicrons . This accumulation of chylomicrons is what we call chylomicronemia syndrome. This causes abnormally high triglyceride levels in the blood.
It is so rare that only one or two people in a million worldwide are affected. It is usually diagnosed before the age of 10, and some children are diagnosed with the condition within the first year of life.
Why is this happening?
The main cause of this is a genetic mutation. The reason for this is a defect in the genes involved in making the lipoprotein lipase (LpL) enzyme that we talked about.
The important thing is that to develop this disease, you must inherit this defective gene from both your mother and father. If you inherit it from only one parent, you will not develop the disease, but you will become a 'carrier' of that gene. This means that you have the potential to pass this gene on to your children.
The LpL enzyme is produced by our pancreas. Its main function is to break down chylomicrons in the blood and help the body use the fat in them for energy. So when LpL is not working properly, the fat cannot be broken down and triglyceride levels in the blood skyrocket.
What are the symptoms of this?
The symptoms of FCS are caused by high levels of triglycerides in the blood. A healthy person's triglyceride levels are less than 150 mg/dL. However, in someone with FCS, this level can exceed 1,000 mg/dL. It is very important to recognize these symptoms.
| Symptom | A simple explanation |
|---|---|
| Stomach pain | This is the most common symptom. This intermittent pain can start in the upper abdomen and radiate to the back. Sometimes it can be very severe. |
| Pancreatitis | This is often the cause of stomach pain. The pancreas is an important organ inside our abdomen. This is when it swells. Symptoms such as nausea, sweating, feeling weak, and yellowing of the eyes and skin can also come with this. |
| Skin changes | Some people develop a condition called cutaneous xanthomas . These are painless, red-yellow, small bumps that appear on places like the buttocks, knees, and elbows. These are made up of fat. If you see these, it could be a sign of high blood fat. |
| Changes in the eyes | Lipaemia retinalis is a condition in which the blood vessels inside the eye appear milky. This is caused by a build-up of fat. However, it does not harm vision. |
| Enlargement of the liver and spleen | Especially in young children, a type of white blood cell (macrophages) tries to absorb excess fat in the body. These cells absorb the fat and deposit it in the liver and spleen, causing those organs to enlarge. |
| Mental and neurological symptoms | Some patients may develop conditions such as depression, memory loss, and dementia. |
How is this diagnosed and treated?
Diagnosis
Because it's a rare condition, it can sometimes take a while to get an accurate diagnosis. If you have persistent stomach pain, repeated bouts of pancreatitis, and high triglyceride levels in your blood, your doctor may suspect FCS.
The following tests are performed to confirm the disease:
- Fasting triglyceride blood test: This test is done after fasting for several hours. If the triglyceride level is higher than 750 mg/dL, it may be FCS. Sometimes the blood sample may look milky.
- Lipase level testing: A special injection (heparin) is given to measure how much of the LpL enzyme is produced by the body.
- Genetic tests: This is the only way to be 100% sure. It can check whether the defective gene was inherited from both parents.
- CT scan: This helps to see if there is damage to organs like the pancreas and liver.
Treatment methods
Diet is the mainstay of treatment for FCS, and there is also a new drug that has recently been approved.
The most important thing: Medications like statins and fibrates, which are usually given for cholesterol, do not work for FCS. Because for those medications to work, the LpL enzyme we talked about earlier needs to be functioning properly in the body.
Diet for FCS
This is the most important part of management. It is essential to work with your doctor and a nutritionist to develop this meal plan.
- Limit fat: The amount of fat consumed per day should be less than 20 grams.
- Stop drinking alcohol completely: Alcohol increases triglyceride levels even more.
- Limit simple sugars and carbohydrates: Avoid things like sugary drinks and sweets.
- Things to eat: Vegetables, fruits, legumes, whole grains, egg whites, fat-free dairy products, and lean meats.
- Vitamin supplements: Your doctor may recommend taking fat-soluble vitamins such as vitamins A, D, E, and K, which the body needs to reduce fat.
New medicine
Olezarsen (Tryngolza) is a newer drug approved in December 2024. It is an injection that is given under the skin once a month. Simply put, it works by reducing the body's production of a protein called apoC-III , which helps fat accumulate in the blood. You can learn more about this from your doctor.
Challenges of living with FCS
FCS is a lifelong condition that can have a significant impact on both physical and mental health.
- Eating difficulties: Eating out and going to parties can be very difficult.
- Psychological effects: Frequent pain, fear of the future, anxiety, and "brain fog" may occur.
- Impact on social and work life: Frequent hospitalizations can make it difficult to maintain social relationships and work.
Therefore, it is very important to work closely with your medical team and, if necessary, seek the support of a mental health counselor.
Take-Home Message
- FCS is a rare genetic condition that causes the body to be unable to break down fats (triglycerides).
- This causes abnormally high triglyceride levels in the blood, and the main symptoms are severe stomach pain and inflammation of the pancreas (pancreatitis).
- The main part of treatment is to follow a very strict fat-restricted diet . Alcohol should be completely avoided.
- Regular cholesterol medications don't work for this condition, but there is a newly introduced drug.
- Managing this condition is a lifelong challenge, so it's important to get the support of your doctor, nutritionist, and family.
- If you or someone in your family has these symptoms, see your doctor without delay and seek advice.
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