What is Hypercholesterolemia?

There are different types of hypercholesterolemia. Some forms are genetic, sometimes known as familial hypercholesterolemia. The other type is developed by environmental factors, including diet and inactivity. ¹

According to the U.S. National Library of Medicine (USNLM), familial hypercholesterolemia "affects about 1 in 500 people in most countries." The USNLM also reports that familial hypercholesterolemia is more common in the following groups: Afrikaners in South Africa, French Canadians, Lebanese, and Finns.¹

Genetic causes of the condition are the result of mutations in one of the following genes: APOB, LDLR, LDLRAP1, and PCSK9.The most common genetic cause of the condition is a mutation on the LDLR gene, which is the type called familial hypercholesterolemia. ¹

The LDLR gene regulates blood levels of low density lipoproteins (LDL cholesterol, aka the "bad" cholesterol). When this gene has a mutation it causes more LDL cholesterol to be present in the blood, which leads to plaque formation on arteries. This restricts blood flow and leads to coronary artery disease (CAD). CAD increases the risks of heart attack as well as often causing angina (chest pains).¹

According to the USNLM, APOB mutations cause hypercholesterolemia due to a defective apolipoprotein B-100 (FDB). LDLRAP1 mutations cause autosomal recessive hypercholesterolemia (ARH). The USNLM reports that, "Proteins produced from the APOB , LDLRAP1 , and PCSK9 genes are essential for the normal function of low-density lipoprotein receptors...Hypercholesterolemia results when low-density lipoprotein receptors are unable to remove cholesterol from the blood effectively."¹

Environmental causes of this condition are tobacco usage; high fat and/or high cholesterol diet; and a sedentary lifestyle. Therefore the most effect treatments for this condition are a low fat/low cholesterol diet, regular exercise, and a tobacco free lifestyle. Sometimes medications may be needed to lower cholesterol as well. ^1,3

In the early stages, there may be no symptoms to indicate that a person has high cholesterol. A blood test for cholesterol and triglyceride is the only way to accurately tell if someone has unhealthful levels of cholesterol. According to the University of Maryland Medical Center, healthy levels for total cholesterol are: Normal/desirable- below 200 mg/dL; Borderline high- 200 - 239; and High- Above 240. Triglyceride levels are as follows: Optimal- Below 150 mg/dL; Borderline high: 150 - 199; and High- Above 200. ²

Sources:

¹Hypercholesterolemia, http://ghr.nlm.nih.gov/condition=hypercholesterolemia

²LDL and HDL Cholesterol: What's Bad and What's Good?,http://www.americanheart.org/presenter.jhtml?identifier=180

³Hypercholesterolemia, http://www.umm.edu/altmed/articles/hypercholesterolemia-000084.htm