Familial Hypercholesterolemia: Genetics Play A Role

By Chris A. Harmen

Cholesterol is a big concern, particularly for Americans. It's thought that one third of Americans have high blood pressure and high cholesterol, and this accounts for nearly 72 million American adults. One of the scariest things is that most don't know they even have a problem, that is, until they have a stroke or heart attack. A proper diet, regular exercise, maintaining a healthy weight and quitting smoking can all help reduce the amount of cholesterol in the blood, but some individuals may need medication to get this problem under control.

What Is Cholesterol?

Cholesterol is a fatty substance that exists in the body's bloodstream. The body needs it to support cell membranes, however nearly one third of Americans have an excess of it in their bodies. There are two types: high density lipoprotein (HDL) and low density lipoprotein (LDL). HDL is the good type, while LDL is the harmful type. Foods that can reduce the levels of LDL in the body include nuts, fish and flaxseeds.

Familial Hypercholesterolemia & Genetics

The majority of people have high cholesterol and high blood pressure simply due to their diet and exercise habits. However, there is a group of people with a condition known as familial hypercholesterolemia. Genetics play a major role in determining who lives with FH because heart attacks and heart disease in people with FH aren't caused by a lack of a proper diet and exercise. Instead, it's a dominant disorder, which means that it takes having just one parent with the disorder to be diagnosed with it. If you have a strong family history of heart disease and heart attacks, it's a good idea to go to the doctor and get tested.

Who Is At Risk For FH?

At least one out of 500 are impacted by FH. The disorder affects people of all backgrounds, however people with French Canadian, Lebanese, Ashkenazi Jewish and South African Afrikaner are most affected. It's thought that these populations have a frequency rate as high as one in 80 or one in 100.

Diagnosing FH

It can be difficult to diagnose FH. This is because there aren't a lot of visible symptoms. However, some people will experience tendon xanthomas, which are deposits of cholesterol in the tendons of the ankles and hands. These bumps are visible under the skin and can be large or small. Additionally, there may be visible cholesterol in the eye's cornea and fatty deposits called xanthelasmas around the eyes. These deposits can be either yellow or orange. However, these signs are usually just seen in older adults so if you suspect that you have familial hypercholesterolemia, genetics testing and a blood test may be the only way to diagnose the disorder when you're young.

While most people can reduce their risk of a heart attack by changing their diet and exercising more, for people with familial hypercholesterolemia, genetics play a larger role. If your parents or siblings have problems with their blood pressure but otherwise seem healthy, consider going to the doctor to get a complete physical done, including blood work and possibly genetic counseling to diagnose FH. Knowing if you're living with this disorder and then treating it is an important part of staying healthy.

The FH Foundation works to raise awareness about familial hypercholesterolemia. Genetics, not lifestyle, are to blame for the condition, however the risk of heart attack or high blood pressure can be helped through medication, diet and exercise. For more information or to learn the risk factors of FH, please visit the foundation's site.

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