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Everything You Need To Know About The Hypercholesterolemia (High Cholesterol Levels) Condition

Hypercholesterolemia is a condition which causes high levels of cholesterol in the blood. According to the Familial Hypercholesterolemia Foundation, it is estimated that 1 in 250 people worldwide have hypercholesterolemia.

Cholesterol is a wax-like substance that is produced in the body and is present in foods like poultry, fish, dairy products, and egg yolks. The body requires cholesterol to build cell membranes, produces certain hormones and compounds. However, excess cholesterol is harmful to the body and can lead to heart disease and stroke [1] .


Causes Of Hypercholesterolemia [2]

Familial hypercholesterolemia is passed on by parents due to a genetic mutation in one of the three possible genes. One of the genes produces a protein called LDL receptor (LDLR), which eliminates low-density lipoprotein (LDL) or bad cholesterol from the blood.

In familial hypercholesterolemia, transformation occurs in this gene that prevents them from producing LDLR, resulting in an increase in bad cholesterol that builds up in the bloodstream and gets deposited in the blood vessels.

Another reason for the rise in bad cholesterol levels is when the APOB and PCSK9 genes are altered.


Usually, the liver works in making good cholesterol, however, in familial hypercholesterolemia, the liver is unable to recycle cholesterol or regulate cholesterol levels, resulting in high cholesterol levels.

There are two types of familial hypercholesterolemia:

  • Heterozygous familial hypercholesterolemia (HeFH) occurs when a person inherits the FH gene from one parent.
  • Homozygous familial hypercholesterolemia (HoFH) occurs when a person inherits the FH gene from both the parents and is a rare form of familial hypercholesterolemia.

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Symptoms Of Hypercholesterolemia

The symptoms rarely occur and are not visible when it is in its early stages. However, some people may experience the following symptoms:

  • Chest pain
  • Xanthomas, waxy cholesterol deposits in the skin or tendons
  • Small bumps on the skin, especially the hands, knees, elbows or around the eyes
  • Small, yellow deposits of cholesterol that build under the eyes or around the eyelids
  • A person with familial hypercholesterolemia who inherits the mutated genes from both the parents is more likely to develop xanthomas at an early age and during infancy [3] .

Diagnosis Of Familial Hypercholesterolemia [4]

Diagnosis is done by inquiring about the person's symptoms and asking about any family history of the condition. The doctor may also check for the cholesterol deposits that have built up in the body. In children, if it is higher than 250 mg/dl, and in adults, higher than 300 mg/dl, then it is a cause of concern.

Blood tests are done to check a person's total cholesterol levels. Genetic testing can also detect the genetic mutation by identifying the changes in genes, proteins or chromosomes. Several methods are used for genetic testing like molecular genetic tests, chromosomal genetic tests, and biochemical genetic tests.

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Treatment Of Familial Hypercholesterolemia [4]

The treatment depends on the severity of the symptoms and how high cholesterol levels are. Prescription medications are recommended to lower their overall cholesterol levels.

People with high cholesterol levels may also need to go through a procedure called LDL apheresis, a process involving the removal of excess cholesterol from the bloodstream.

The most common medication for familial hypercholesterolemia is atorvastatin, which keeps cholesterol levels in check. Other medications include bile acid sequestrant resins, fenofibrate, ezetimibe, nicotinic acid, or niacin and gemfibrozil.

How To Manage Familial Hypercholesterolemia

Implementing certain lifestyle changes can keep your cholesterol levels in moderation. These include:

  • Lowering the risk of health conditions like high blood pressure and diabetes will lower the impact of familial hypercholesterolemia.
  • A person with familial hypercholesterolemia should be physically active.
  • The person should consume at least 10-20 grams of soluble fibre a day and reduce the intake of trans fats and saturated fats.
  • Smoking should be avoided as it is important for preserving blood flow and oxygen supply.

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View Article References  
  1. [1]   Berger, S., Raman, G., Vishwanathan, R., Jacques, P. F., & Johnson, E. J. (2015). Dietary cholesterol and cardiovascular disease: a systematic review and meta-analysis. The American journal of clinical nutrition, 102(2), 276-294.
  2. [2]   Shimokawa, H., & Vanhoutte, P. M. (1989). Hypercholesterolemia causes generalized impairment of endothelium-dependent relaxation to aggregating platelets in porcine arteries. Journal of the American College of Cardiology, 13(6), 1402-1408.
  3. [3]   Artieda, M., Cenarro, A., Junquera, C., Lasierra, P., Martínez-Lorenzo, M. J., Pocoví, M., & Civeira, F. (2005). Tendon xanthomas in familial hypercholesterolemia are associated with a differential inflammatory response of macrophages to oxidized LDL. FEBS letters, 579(20), 4503-4512.
  4. [4]   Hovingh, G. K., Davidson, M. H., Kastelein, J. J., & O'Connor, A. M. (2013). Diagnosis and treatment of familial hypercholesterolaemia. European heart journal, 34(13), 962-971.

Story first published: Saturday, September 14, 2019, 17:00 [IST]
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