Familial Hypercholesterolemia Symptoms: How Can You Tell If You Have FH?

By Chris A. Harmen

Strokes and heart attacks are some of the leading causes of death for both American men and women. According to the Centers for Disease Control, more than 130,000 people die from a heart attack every year. Cardiovascular disease accounts for one third of deaths each year -- that's more than 800,000 people.

Many of these Americans can help reduce their risk of cardiovascular disease through diet and exercise. Some can even turn heart disease around completely with a concerted effort to eat better foods, quit smoking and exercise more. However, people who suffer from familial hypercholesterolemia (FH) have bodies that are unable to remove the bad type of cholesterol (also called LDL or low density lipoprotein) from their bloodstreams. It's an autosomal dominant gene, which means the disorder is passed down from a parent. If both parents happen to have the disorder, the result could be quite dangerous for any children.

Physical Familial Hypercholesterolemia Symptoms

There aren't many familial hypercholesterolemia symptoms, especially ones that can be seen with the naked eye. However, there are a few telltale signs. Xanthomas are fatty deposits that can be seen under the skin and they're typically found on the hands, the elbows, ankles and knees. Other physical familial hypercholesterolemia symptoms that can be seen with the naked eye are cholesterol deposits in the eyelids and underneath the eye, also called xanthelasmas. Another symptom is a cholesterol deposit on the cornea, however this can be more difficult for a layperson to see and may require a doctor's attention to diagnose.

Unseen Familial Hypercholesterolemia Symptoms

There are many other unseen familial hypercholesterolemia symptoms. Probably the biggest symptom is chest pain, or angina, and coronary artery disease, especially in people who are very young. If your parents or grandparents suffered from heart disease or had a heart attack when they were young, it's a good idea to talk to your doctor about being tested for FH, either through blood cholesterol tests, genetic testing or cell studies.

How To Treat FH

There is no cure for FH, however the disorder is treatable. The good news is that part of the treatment includes things that everyone should be doing anyway: exercising regularly, not smoking and eating foods that are low in saturated fats and trans fats.

However, nearly all FH patients will also need to take medication that will lower cholesterol. Unlike most people who have heart disease, diet and exercise will not be enough to treat the disorder. In some cases, medication isn't enough and the person with FH will need to have cholesterol removed from the bloodstream through dialysis.

If your parents suffered from heart disease from a young age and your physical has turned up some concerns, consider asking your doctor if you can be tested for FH. In addition, think about having your children tested as well. Knowing you have the disorder is the first step toward taking action, protecting your heart and finding a healthier you.

The FH Foundation works to raise awareness about familial hypercholesterolemia and familial hypercholesterolemia symptoms. The risk of heart attack or high blood pressure can be reduced 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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