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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
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.
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.
Very high levels of cholesterol (LDL specifically) in the blood is called 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.
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.
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.
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.
If you are under the age of 60, the following symptoms would suggest that you may have familial hypercholesterolemia.
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.
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.
Familial hypercholesterolemia cannot be cured, but it can be treated to keep cholesterol levels low. Treatment would typically include:
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.
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.
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