Analyze DNA Raw Data For Familial Hypercholesterolemia Variants

What is cholesterol? What role does it play in our body?

Cholesterol is a type of fat with a waxy texture. It plays a vital role in maintaining the structure of every cell in our body.

While the liver produces cholesterol in our body, we also obtain cholesterol from the different foods we eat such as meat, butter, cheese, and many others.

Cholesterol is a part of the cell membrane of every cell in our body.

It controls the flow of substances into and out of the cells and aids the normal functioning of organs.

Cholesterol plays an important role in the synthesis of vitamin D and sterol hormones in the body.

It is also essential in order for our body to synthesize bile acids that aid in food digestion

What happens to cholesterol after we eat food?

The food we eat is digested, and the cholesterol consumed eventually enters the bloodstream.

Cholesterol cannot travel through the blood on its own- free cholesterol in blood would look like a drop of oil in water and would be unable to move very far.

As a workaround, the body creates little fat-pockets called lipoproteins. These lipoproteins carry the cholesterol to different cells in our body.

Important body lipoproteins:

High-density lipoproteins (HDL) and low-density lipoproteins (LDL). High-density lipoproteins (HDL) is the "good" lipoprotein. It transports cholesterol from the artery to the liver.

On the other hand, low-density lipoprotein (LDL) also transports cholesterol, but too much of it can have adverse effects on the body.

When we consume food rich in cholesterol or if the body is unable to transport cholesterol to the cells efficiently, it begins to accumulate in the blood vessels.

When there is too much cholesterol– especially LDL– in the bloodstream, it can build up on the walls of the arteries.

As these clumps of “bad cholesterol” grow bigger, they eventually end up clogging the arteries.

This leads to the formation of plaques, and it hampers the flow of blood to the heart.

If the condition worsens, it could lead to heart disease.

The plaque may also form within the arteries that supply blood to the brain and cause a stroke.

What is Hypercholesterolemia?

Very high levels of cholesterol (LDL specifically) in the blood is called hypercholesterolemia.

Who is at risk of hypercholesterolemia?

Lifestyle factors such as an unhealthy diet, a sedentary lifestyle, smoking, and obesity typically cause hypercholesterolemia. However, some other factors out of your control such as your genetic makeup also influence your predisposition to develop hypercholesterolemia.

What is familial hypercholesterolemia?

The Low-density lipoprotein reception (LDLR) gene on chromosome 19 controls the production of a protein called LDL-receptor. When we have normal levels of LDL in our bloodstream, the LDL receptor proteins bind to the LDL molecules and transport the LDL to the cells with the help of many other proteins.

This ensures that the LDL is transported into the cells and does not accumulate in the bloodstream to cause any damage to the arteries.

One in 500 people may have a mutation (or an alteration) on the LDLR gene that controls the clearance of LDL from the bloodstream.

In such cases, the number of LDL receptors in the blood will be significantly reduced.

This makes it harder for the body to clear LDL from the bloodstream.

This results in high levels of LDL and total cholesterol in the blood.

This condition of hypercholesterolemia resulting from a genetic mutation is called familial hypercholesterolemia.

Can familial hypercholesterolemia be inherited?

Since familial hypercholesterolemia occurs from a genetic mutation, we can inherit it from our parents and also pass it on the next generation.

If the parent has familial hypercholesterolemia, there is a 50% chance that this mutation is passed on to their children.

If a person inherits one copy of the mutated gene from their parents, they are considered to have familial hypercholesterolemia.

This condition is called heterozygous familial hypercholesterolemia.

In some even rarer cases, a person may inherit this mutated gene from both parents (this means that both parents have familial hypercholesterolemia).

This is a more severe case called homozygous familial hypercholesterolemia.

In this case, all biological children of this person will definitely have familial hypercholesterolemia.

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How common is familial hypercholesterolemia?

In most countries, familial hypercholesterolemia occurs in about 1 in 500 people. However, it is reported to occur more frequently among the French Canadians, Afrikaners in South Africa, Finns, and Lebanese.

What are the symptoms of familial hypercholesterolemia?

If you are under the age of 60, the following symptoms would suggest that you may have familial hypercholesterolemia.

Xanthomas: the presence of fatty growths under the skin– typically in the joints
Corneal arcus: fatty deposits in the edge of the cornea.
Xanthelasmas: a yellow plaque near the inner corners of the eyelids

Can high blood pressure be a sign of blocked arteries?

Yes. When cholesterol deposits build up as plaque in the major blood vessels that supply blood to the heart, it makes it more difficult for the blood to flow through these blood vessels.

This increases the blood pressure reading and is a risk factor for heart disease.

How do I get diagnosed for familial hypercholesterolemia?

Your physician may suspect that you have familial hypercholesterolemia during a physical examination based on some symptoms. They may also request for additional laboratory tests such as blood tests for cholesterol levels and cardiac function tests.

Additionally, your physician could also prescribe genetic testing to identify if there is a mutation in the LDLR gene.

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How can familial hypercholesterolemia be treated?

Familial hypercholesterolemia cannot be cured, but it can be treated to keep cholesterol levels low. Treatment would typically include:

Medication: Cholesterol levels can be controlled by medical treatment
Physical activity: Regular exercise can keep cholesterol levels under control
Diet: Cholesterol levels can be reduced by limiting the consumption of red meats and saturated fats, and increasing plant-based sources and whole grains. Studies show that while coffee can increase cholesterol levels, but dark chocolate can help reduce cholesterol levels.
Quitting or avoid smoking

What is the life expectancy of a person with familial hypercholesterolemia?

Familial hypercholesterolemia is the cause of an early onset coronary artery disease (i.e. heart disease before the age of 55 years) in about 10 percent of people. If left untreated, familial hypercholesterolemia can reduce the life expectancy of a person by 15-30 years.

Hence it is essential for someone with familial hypercholesterolemia to not only seek medical care right away but to adhere to their treatment regimen.

Can familial hypercholesterolemia be prevented?

While our genetic makeup determines whether or not we have Familial hypercholesterolemia based on the presence of a mutated LDLR gene.

However, you can seek medical treatment to control your cholesterol level.

Additionally, you must also moderate lifestyle factors such as diet, smoking, and alcohol consumption habits, and physical activity to keep your cholesterol levels in check.

How can I change my diet to lower my cholesterol levels?

Limit red meat and full-fat dairy products in order to reduce your fat intake.
Include more plant-based foods in your meals such as whole grains, fruits, and vegetables.
- Consumption of barley and oats have been suggested to reduce cholesterol levels.
- Avocado, nuts, turmeric, watermelon, and vegetables like asparagus, and broccoli are believed to cleanse out arteries of build-up
- Onions and garlic too, are popular anti-clogging agents. They produce compounds that inhibit the formation of build-up in our arteries.
- Olive oil, lemongrass oil, fenugreek oil have been shown to reduce blood cholesterol levels.
- Herbs such as lemongrass and Hawthorne are seen to contain isoprenoids that have cholesterol-lowering effects.
- Tomato juice has been reported to have a protective effect by decreasing LDL levels in the blood
Consider cutting down on coffee. Coffee has been shown to scientifically increase LDL levels.
Incorporate berries into your diet
- Blueberries contain anthocyanin, an antioxidant that can lower cholesterol
- Several studies have shown that daily consumption of strawberries can reduce cholesterol levels
Soy protein can also lower cholesterol levels by a small amount
Apple cider vinegar has gained a lot of popularity due to the health benefits it has to offer. It reduces cholesterol and blood sugar levels and also contributes to weight loss. This can ultimately help us become “heart healthy”
Eating dark chocolate- You must have put some serious thought and effort into lowering your cholesterol, so treat yourself with some dark chocolate. Seriously. Dark chocolate contains cocoa that offers several health benefits. It has high amounts of flavonoids that can lower LDL levels and protect your heart.
Other not-so-popular cholesterol-lowering foods include flaxseed has also been shown to have a beneficial effect on heart health