Familial Hypercholesterolemia

What Are The Signs And Symptoms Of Familial Hypercholesterolemia?

Cholesterol is a fat-like waxy substance that is useful for the production of cell membranes, hormones, vitamin D, etc. This waxy substance is usually produced within your body and can also be obtained from the food you eat.

What Are The Signs And Symptoms Of Familial Hypercholesterolemia?

Since plants don’t have fat, these can be obtained from animal food products like meat and dairy. This cholesterol along with other fats is carried through your bloodstream and is known as lipoproteins. These lipoproteins are categorized into two based on their functions, they are low-density lipoproteins(LDL) and high-density lipoproteins(HDL).

What Is The Common Cause Of Familial Hypercholesterolemia?

Cholesterol plays a major role in the production of sex hormones, acts as a building block of human tissues, and assists in bile production in the liver.

Even though they are beneficial for the proper functioning of your body, an increased amount could cause adverse effects on your health that could even pave way for chronic diseases. One such kind of disorder caused by cholesterol is Familial Hypercholesterolemia.

Familial hypercholesterolemia is an inherited disorder caused by variations in cholesterol metabolism that could lead to several chronic cardiovascular disorders, complications, and increased death rates from heart attacks at a very young age.

The major reason behind this disease is the increased LDL cholesterol levels that arise due to the genetic transformation which prevents the body from removing LDL cholesterol from the blood. These increased cholesterol levels could result in toughening and clogging of the arteries.

This condition is known as atherosclerosis and causes heart attacks, strokes, premature death, etc. 

Signs And Symptoms Of Familial Hypercholesterolemia 

The major cause of Familial hypercholesterolemia is increasing cholesterol and people are not much concerned about it as it doesn’t show any symptoms until it becomes severe. Here are some of the signs and symptoms caused by Familial hypercholesterolemia.

  • Severe chest pain.
  • Fat deposits in tendons, knees, elbows, etc, and this condition is commonly known as xanthomas.
  • Fat deposits around eyelids, known as xanthelasmas. 
  • Fat deposit around the cornea causes corneal arcus, a grey or white ring around the iris of the eye. 
  • Sores on toes that do not heal. 
  • Yellowish areas around your eyes. 
  • Impulsive stroke symptoms such as speaking issues, drooping of one side of the face, sudden body balance loss, etc.

An adult suffering from Familial hypercholesterolemia will have an LDL cholesterol level of more than 190mg/dL and in the case of children, it will be over 160mg/dL. Such people will have a family health history with premature heart disorders and deaths.

Usually, as there are no symptoms found in this disease people only get aware at the adverse stage when they have any cardiovascular issues. But in some cases, this condition could be found through a routine blood cholesterol screening. 

As mentioned above, this inherited disorder is caused by variations or mutations in LDLR, APOB, and PCSK9 genes. These genes are responsible for the control of how your body restrains and releases the cholesterol from your blood.

According to the records, 60-80% of the people suffering from Familial hypercholesterolemia had variations in any one of these genes.

The most common form of Familial hypercholesterolemia is a monogenic, autosomal dominant disorder that causes deficiencies in the genes that encode the LDL receptor.


Familial hypercholesterolemia can be treated by reducing the risk of toughening the arteries.

This can be done naturally by bringing changes in your lifestyle and reducing the level of cholesterol intake since it is only received from the food you eat.

A healthy lifestyle that includes regular exercise, maintaining a healthy weight, avoiding smoking, etc can help regulate your cholesterol levels.

There are many other treatments available nowadays that help in reducing your LDL cholesterol levels and thus eliminating the trans fat from your body.        

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