Familial Hypercholesterolemia - What you need to know about it

Are there people in your family who have had heart attacks before they get old, that is, at the age of 40-50? Or is it common for people in your family to constantly say, "High cholesterol, high cholesterol"? Most of the time, we think that the reason for this is things like what we eat and drink, and not exercising. That is true, and that also has an effect. But sometimes, the real reason behind this high cholesterol may be a problem inside our body, in our genes. That is what we call `Familial Hypercholesterolemia` or `FH` in medicine. Today, we will talk about this simply, in a way that you can understand.

Simply put, what is Familial Hypercholesterolemia (FH)?

Familial Hypercholesterolemia is a genetic condition that is inherited from one's mother, father, or both. This is when the "bad" cholesterol, or LDL cholesterol, in our bodies is very high from birth.

Think of our blood vessels as arteries. This `LDL` cholesterol is like a yellow, waxy layer that sticks to the walls of those arteries. Normally, these build up little by little. But in a person with `FH`, the `LDL` cholesterol level is so high that this waxy layer begins to build up very quickly and very thickly inside the blood vessels. We call this `atherosclerosis`. Over time, this layer grows and narrows the blood vessels, sometimes completely blocking them. That's when life-threatening things like heart attacks and strokes occur.

The `LDL` cholesterol level of a normal healthy person should be less than 100 mg/dL. However, in a person with `FH`, this value can be much higher, such as 160 mg/dL, 190 mg/dL . In some severe cases, it can even exceed 400 mg/dL. The most dangerous thing is that since this condition has been present since childhood, if not treated, the risk of developing heart disease is very high at a much younger age than the average person.

This story may sound a little scary, but the good news is that if you identify it early, take the right medication, and make lifestyle changes, you can almost completely control it and live a healthy life.

There are two main types of FH.

This condition is divided into two main types based on how we inherit it. This is very simple to understand.

Imagine that our bodies have two 'instructions' for controlling cholesterol. One we get from our mother, and the other from our father.

1. Heterozygous FH: This is the most common type. What happens here is that there is a defect in the 'instruction book' (gene) that is inherited from only one parent, either the mother or the father. This means that one book is good, and the other book has a slight error. This causes cholesterol control to be a bit out of whack.

2. Homozygous FH: This is very rare, and also very severe.Type. What happens here is that both the 'instructions' received from both mom and dad are flawed. Then the mechanism that controls cholesterol becomes very weak. The `LDL` cholesterol levels of these people are very high.

`FH` is a genetic disease in the `autosomal dominant` category. This simply means that a child does not need to inherit the defective gene from both parents to inherit the disease, it is enough to inherit it from just one parent .

How common is this condition? What are the symptoms?

It is estimated that one in every 250 people in the world has the common condition `Heterozygous FH`. But the saddest thing is that 9 out of 10 of these people do not know that they have the disease .

Often, FH does not show any specific symptoms in the early stages. You may not know you have FH until you have a heart attack, such as chest pain. But then it may be too late. This is because cholesterol deposits in the blood vessels of a person with FH begin to form from the day they are born.

Over time, cholesterol buildup can lead to the following symptoms.

How is FH diagnosed?

If your doctor suspects that you have FH, they will look at several things to confirm the diagnosis.

• Blood test: This is the most important. A blood test called a `Lipid Profile`, which checks your cholesterol levels, looks for abnormally high levels of `LDL` cholesterol. If it is more than 190 mg/dL in an adult, or more than 160 mg/dL in a child, `FH` is suspected.
• Family medical history: This is very important. Your doctor will definitely ask you questions like, "Have your father, mother, grandparents, or siblings ever had heart attacks at a young age?" "Does anyone in your family have high cholesterol?"
• Physical examination: The doctor will check your body for any signs of xanthomas (skin lumps) or corneal arcus (eye circles) mentioned earlier.
• Genetic testing (DNA test): In some cases, genetic testing can be done to definitively confirm the disease. This can check for defects in the main genes that cause FH (such as APOB, LDLR, or PCSK9).

What are the treatments?

`FH` is not a disease that we can cure. Because it is something that comes with our genes. But it can be very well controlled . The main goal of treatment is to reduce `LDL` cholesterol levels as much as possible, reducing the risk of heart disease.

1. Medicines (types of medicines)

Lifestyle changes alone are not enough to control cholesterol for someone with `FH`. Therefore , one or more medications must be taken for the rest of their lives .

• Statins:These are the most common and first-line medications. They work by reducing the production of cholesterol by the liver.
• PCSK9 inhibitors: These are a relatively new class of injectable medications. They are very effective for people whose cholesterol levels cannot be controlled with statins alone.
• Ezetimibe: This medication works by reducing the absorption of cholesterol from the foods we eat. It is often given in combination with statins.
• Other medications: In addition, there are other medications such as `Bile acid sequestrants` and `Fibrates`. Your doctor will decide which medication is most suitable for you.

2. Lifestyle changes

Along with taking medication, it is also important to follow a healthy lifestyle. This not only increases the effectiveness of the medication, but can also further reduce the risk of heart disease.

3. Other specific treatments

For people with very severe homozygous FH, medication alone may not be able to control their cholesterol. For these people, a treatment called LDL apheresis is performed. This is like dialysis. A small amount of blood is taken, passed through a machine, which removes the bad LDL cholesterol, and then re-injects it back into the body. This is done once or twice a week.

If you have FH, what should you do?

If you are diagnosed with `FH`, it is not just about you. It is an important message for your entire family.

If a child has a family history of `FH`, cholesterol can be tested even from the age of 2. Because the sooner treatment for this condition begins, the more likely complications can be minimized in the future.

If you have `FH`, don't panic. Stay in touch with your doctor. Take your medication on time. Make lifestyle changes. Then you too can live a long, healthy life like everyone else.