Imagine, you are very thin, exercise well, and are very careful about what you eat and drink. You are about 40 years old. Who would think that someone like that would have a heart attack? It is unbelievable, isn't it? But this is a real thing. Today we are talking about such an invisible, but very dangerous health condition. This is something that many people don't know, but we all need to know.
What is this hereditary cholesterol disease? (Familial Hypercholesterolemia)
Simply put, this is a genetic disease. That is, it is something we inherit from our parents. A person with this disease has very high levels of LDL (Low-Density Lipoprotein) cholesterol, which we call "bad cholesterol", in their body from birth.
Usually, when we talk about cholesterol, we think that these increase only in people who eat oily and fatty foods, do not exercise, and are obese. That is true to some extent. But in this condition called Familial Hypercholesterolemia (FH) , no matter how thin you are or how healthy your lifestyle is, the level of bad cholesterol in your body automatically increases. Because, the reason for this is not your lifestyle, but a defect in your genes.
Because of this, even a young person who thinks they are very healthy can suddenly have a heart attack or stroke without any warning .
A few years ago, a 40-year-old woman shared her experience. She was very thin and healthy. One day, while at a restaurant, she felt an unbearable heaviness in her chest and was sweating profusely. When she immediately went to see a doctor, after an ECG, the doctor said, "You just had a heart attack." She couldn't believe it.
Later, a special test called ``Heart Catheterization`` found that four of the main blood vessels supplying blood to her heart were 90% blocked. Within two weeks, five small tubes, called ``Stents``, had to be inserted to keep those vessels open. It was finally discovered that she had a disease called Familial Hypercholesterolemia (FH).
Are our children also at risk?
This is the most important thing we need to focus on. Since FH is a hereditary disease, if one of the parents has the disease, there is a 50% chance that the children will inherit it . This means that if there are two children, there is a high chance that at least one of them will have the disease.
The danger of this is that, because the symptoms are not visible, we may not know that a child has this disease. But inside that child's body, bad cholesterol gradually starts to accumulate in the blood vessels. Because of this, that childEven at a young age, that is, in your 20s and 30s, there is a very high risk of having a heart attack or stroke.
Therefore, if someone in your family has had heart attacks at a young age, or if there is a family history of high cholesterol, it is very important to have your children tested for cholesterol. The American Academy of Pediatrics even recommends that all children between the ages of 9 and 11 get their cholesterol tested.
When to suspect FH status
Not all high cholesterol is FH. But there are some signs that should be considered especially suspicious. I will explain these in a table.
| Suspicious matter | Description |
|---|---|
| Very high LDL cholesterol levels | If an adult's LDL is greater than 190 mg/dL or a child's LDL is greater than 160 mg/dL (these values may vary slightly from country to country). |
| Family history | If a family member (male under 55 years of age, female under 65 years of age) has had a heart attack or heart disease. |
| Physical characteristics (not everyone has them) | Yellowish fatty deposits on the skin around the eyes (Xanthelasmas), fatty lumps in the fleshy folds of the hands, elbows, or knees (Tendon Xanthomas). |
Is it not enough to just change your lifestyle?
This is a question that many people ask. "Can't I lower my cholesterol if I eat well and exercise?" In cases of normal cholesterol levels, lifestyle changes can make a big difference.
But in the case of FH, lifestyle changes alone are not enough . Because the problem is a genetic defect in the system that makes and removes cholesterol in your body. Therefore, while a healthy diet and exercise are very important, medical treatment is definitely necessary to control the excess LDL cholesterol levels in the blood.
Doctors often prescribe cholesterol-lowering medications, such as statins. These medications, given even to children in low doses, can greatly reduce their risk of future heart disease.
Things to ask your doctor
If you or someone in your family has high cholesterol levels, it is very important to see your doctor and ask these questions.
- What cholesterol tests should I have? (e.g. Lipid Profile)
- How often should I have these tests?
- How can diet and exercise help control my cholesterol levels?
- What is my risk of heart disease?
- What symptoms should I be especially concerned about? (e.g. chest pain, difficulty breathing)
Knowing this information will go a long way in protecting yourself and your loved ones from serious illness. Remember, awareness is the best defense.
Take-Home Message
- Familial Hypercholesterolemia (FH) is a genetic disease that is passed down through generations. This can cause very high cholesterol levels even in thin, healthy people.
- If someone in your family has had heart disease at a young age (men < 55, women < 65), it is very important for you and your children to have their cholesterol checked.
- In the case of FH, while it is essential to live a healthy lifestyle, it is often necessary to take medications prescribed by a doctor to control cholesterol levels.
- Early detection and proper treatment can greatly reduce the risk of serious complications such as heart attack and stroke.
- If you have any concerns about your cholesterol levels or family history, be sure to talk to your doctor .











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