You must have heard that you need to take care of your cholesterol to protect yourself from heart disease. But sometimes, no matter how much you control your diet and exercise, your cholesterol levels just don't go down. Maybe someone in your family has had a heart attack at a young age. This could be due to a genetic condition that runs in families. That's the condition we're talking about today, Heterozygous Familial Hypercholesterolemia, or HeFH for short. If a doctor tells you that you have this, it's important to get treatment as soon as possible.
What exactly is HeFH?
HeFH is not a disease that we catch from outside , like a cold. It is a condition that is caused by a genetic mutation that we inherit from our mother or father. Simply put, this genetic mutation reduces the body's ability to remove harmful cholesterol from the blood.
Think about it, cholesterol travels through the blood vessels in our body. There are two main types of these.
| Cholesterol type | Simply put... |
|---|---|
| Good cholesterol (HDL) | These help carry excess cholesterol to the liver and remove it from the body, like a garbage collector. |
| Bad cholesterol (LDL) | These are the most dangerous type. They can build up in the walls of blood vessels, narrowing them and causing heart disease. |
In the case of HeFH, you inherit a gene from one of your parents that impairs the process of removing bad cholesterol (LDL) . If you have this gene, your child has a 50% chance of getting it.
You may have heard of another condition with a similar name, Homozygous Familial Hypercholesterolemia (HoFH). This is caused by the inherited defective gene from both parents. HoFH is a much more severe condition than HeFH, but it is much rarer.
What are the symptoms of this?
If left untreated, HeFH can cause your LDL cholesterol and total cholesterol levels to become very high. This extra LDL cholesterol can build up on the walls of our blood vessels, like dirt clogging a pipe, narrowing the passageway for blood to flow. We call this "atherosclerosis" or "hardening of the arteries."
When this happens, the heart has to work harder than usual to pump blood around the body. Over time, the heart can become damaged and develop heart disease. One of the main symptoms of this condition is chest pain, known as angina. If left untreated, this can lead to a heart attack or stroke.
The most important thing is that if a man with HeFH does not receive treatment, the risk of suffering a heart attack is very high in his 40s and 50s, and in women in their 60s.
Symptoms that require urgent attention
If you have the following symptoms, go to a hospital's Emergency Department (ETU) immediately.
- Symptoms of a heart attack:
- Chest tightness, tightness, or pain
- Upper back or neck pain
- Pain spreading down the arm
- Nausea or vomiting
- Difficulty breathing
- Symptoms of a stroke:
- Difficulty speaking
- Numbness in an arm or leg
- Sagging of one side of the face
- Loss of body balance
Superficial features of the body
High cholesterol can sometimes cause symptoms on the surface of the body.
| Characteristic | Description |
|---|---|
| Xanthomas | These are yellow or orange bumps that form under the skin. They are caused by excess cholesterol. They are most commonly seen in the joints of the hands, the back of the heel (Achilles tendon), and sometimes in places like the elbows and knees. |
| Xanthelasma | These are yellow, patchy bumps that form on the eyelids. They are most commonly seen on the inside of the eye. |
| Corneal Arcus | A white or gray ring around the black eye. This is caused by cholesterol deposits. It does not interfere with vision. |
How do you know if you have this disease?
There are a few simple tests that can help you or your child know if they have HeFH. The most important thing is to get it diagnosed and treated as soon as possible. Although young children are not at risk for heart disease, these high cholesterol levels put them at higher risk of developing heart disease in the future.
If you or someone in your family has any of the following, be sure to see a doctor and talk about it.
- A high LDL cholesterol level that does not decrease despite diet control (over 190 mg/dL in an adult, over 160 mg/dL in a child under 16 years of age).
- Having high cholesterol in the family.
- Having a heart attack or heart disease before the age of 60 in male relatives or before the age of 70 in female relatives.
- The presence of skin lumps such as the aforementioned xanthomas.
- Chest pain.
Your doctor will perform a physical exam to check for these symptoms. In addition, a blood test will measure your cholesterol levels. In HeFH, LDL cholesterol levels are usually higher than 200 mg/dL and total cholesterol levels are higher than 300 mg/dL.
In some cases, a stress test to check heart function or a special genetic test to check for genetic changes may also be recommended.
How is it treated?
The main goal of treating HeFH is to lower your LDL "bad" cholesterol levels and protect you from heart disease. This requires a combination of lifestyle changes and medication.
Lifestyle changes
- Healthy diet: Avoid foods high in saturated and trans fats (beef, pork, coconut oil, egg yolks, skim milk). Instead, include vegetables, fruits, legumes, nuts, fish, and lean poultry in your diet.
- Exercise: Do something that gets your heart pumping, like walking, swimming, or cycling, at least 4 days a week for at least 30 minutes.
- Weight control: If you are overweight, lose weight through diet and exercise.
- Avoid smoking: Smoking is a risk factor for heart disease, so if you have the habit, stop it immediately.
But remember, in HeFH, lifestyle changes alone are not enough to control cholesterol. Drug treatment is essential.
Drug treatment
Your doctor will often first prescribe a class of drugs called statins . These work by stopping the body from making cholesterol. Because cholesterol levels are very high in HeFH, you may need to take these drugs in high doses.
If statins alone are not enough to control the levels, your doctor will prescribe other medications.
- PCSK9 inhibitors: These are drugs given as injections. They help the liver remove LDL cholesterol.
- Ezetimibe: This medication works by reducing the body's absorption of cholesterol from the foods we eat.
Sometimes it may be necessary to use two or three of these medications together.
Other treatments
When cholesterol levels are too high to be controlled with medication and lifestyle changes, you may be offered a treatment called LDL apheresis . This is similar to dialysis, where your blood is passed through a machine that filters out the bad LDL cholesterol and then reintroduces it back into your body.
Take-Home Message
- HeFH is not a contagious disease, but a genetic condition that is passed down from generation to generation.
- Because of this, the risk of developing heart disease at a young age is very high.
- If your cholesterol does not decrease despite diet control, or if you have a family history of heart disease, see a doctor immediately.
- While lifestyle changes are important, medication is essential. Use the medication your doctor prescribes as directed.
- If you have HeFH, it is very important to have your close family members (siblings, children) tested for it as well.
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