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What is Familial Hypercholesterolemia?

Familial Hypercholesterolemia(FH) is a health condition that occurs due to mutations in the LDLR gene and is characterized by high cholesterol levels in the blood.

Familial Hypercholesterolemia statistics illustrate the gravity of this disorder: 1 in 200-500 people have FH worldwide. FH may be found as frequently as 1 in every 67 people in specific populations, including French Canadians, Ashkenazi Jews, Lebanese, and South Africans.

Familial hypercholesterolemia types

FH is further divided into two categories, based on if the variant gene copy is inherited from just one parent or both. The latter is rarely found.

Heterozygous familial Hypercholesterolemia (HeFH) –

In this condition, the person will inherit a gene variant from one of the parents. Most people with FH have this type of disease. Children with HeFH usually have LDL cholesterol levels greater than 130 mg/dL and adults more significant than 190 mg/dL. LDL levels should ideally be less than 100 mg/dL in adults and less than 110 mg/dL in kids.

Homozygous familial Hypercholesterolemia (HoFH) –

Here, the person will inherit some genetic variants from both parents, who have this condition. Patients with this rare variant of FH have LDL cholesterol levels more than 300 mg/dL for adults, and above 400-500 mg/dL for kids. In this condition, people are at increased risk for coronary artery disease and heart attacks at a very young age. It is essential that HoFH is treated on time and more aggressively than HeFH.

Familial hypercholesterolemia causes and symptoms


Familial Hypercholesterolemia is caused by a gene passed down from one or both parents. This condition prevents the body from getting rid of cholesterol that can build up in the arteries and cause heart problems.

This type of cholesterol is called low-density lipoprotein, but more commonly, it is known as LDL or bad cholesterol. LDL cholesterol can cause the arteries to get hard and narrow, increasing the risk of heart attack and heart disease.


The symptoms of Familial Hypercholesterolemia include:

  • Cholesterol deposits in the eyelids
  • Frequent cramping in one or both calves while walking
  • Fatty skin deposits over parts of hands, ankles, knees, elbows, and around the cornea of the eye
  • Sudden stroke-like symptoms like drooping on the side of the face, trouble speaking, loss of balance, and weakness of an arm or leg
  • Chest pain or other signs of coronary artery disease may be present at a young age.
  • Toe sores that do not heal easily.

Read Also – Is Coffee Bad for Cholesterol?

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    Familial hypercholesterolemia treatment

    The treatment of Familial Hypercholesterolemia involves:

    Change in Lifestyle:

    The first line of defence against high cholesterol includes lifestyle changes. This includes exercising and eating a healthy low-fat diet. Some specific recommendations are:

    Consuming soluble fibre a day. Food items such as oats, peas, beans, apples, citrus fruits, and carrots should be consumed to lower cholesterol levels.

    • Maintaining a healthy body weight.
    • Reducing the quantity of saturated fat in a routine diet to less than 30 percent is a must.
    • Increasing physical activity.


    Common medication choices include:

    • Statins are the most commonly prescribed medications for lowering cholesterol, blocking a substance your liver needs to make cholesterol. They help your liver to eliminate cholesterol from your blood. Statins may also help your body reabsorb the cholesterol from the built-up deposits on your artery walls, potentially reversing coronary artery disease.
    • Bile-acid-binding resins–Your liver utilizes cholesterol to produce bile acids that are required for digestion. Hence, some medications can lower cholesterol indirectly by binding to bile acids. This causes your liver to use excess cholesterol to make more bile acids, reducing the cholesterol level in your blood.
    • Injectable medications–A new class of drugs can help the liver absorb more LDL cholesterol, lowering the amount of cholesterol circulating in your blood. The Food and Drug Administration recently approved alirocumab (Praluent) and evolocumab (Repatha) for people who have a genetic condition that causes an increase in LDL levels. People who have had heart attacks or strokes and need additional lowering of their LDL levels can use these medications.

    What’s the difference between FH and standard high cholesterol?

    High cholesterol can develop in anyone as they age. FH is a type of genetic condition that gets passed on to you from any one of your parents. FH is indicated when your cholesterol is high from birth.

    Whereas in most people’s cholesterol is elevated with age, and they may be 50, 60, or 70 before their cholesterol is considered high enough to increase their risk of heart disease.

    So it is not that the cholesterol itself is any different, but that your risk of heart disease is much higher because you’ve had high cholesterol for so much longer. Someone with FH at the age of 40 has the risk of having a heart attack of a 70-year-old.


    Diet and exercise are the best initial treatment for children age 2 and older who have high cholesterol or are obese. FH detected in children of age 10 and older might be prescribed cholesterol-lowering drugs, such as statins, provided they have extremely high blood cholesterol levels.

    For more information on Familial Hypercholesterolemia, connect with our team of experts now!

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