Familial Hypercholesterolemia Diagnosis: How To Talk To Your Doctor

By Chris A. Harmen

Americans are killing themselves year after year because of poor diets, smoking and a serious lack of exercise. When combined, these three factors can lead to heart disease, high cholesterol, strokes, heart attacks and eventually, death. While most people can reverse these very serious conditions through lifestyle changes, for some people, eating well, exercising and not smoking just isn't enough. These people have a genetic disorder known as familial hypercholesterolemia (FH). But, before you can get a diagnosis, you need to talk to your doctor about the risk factors of FH.

Talking To Your Doctor About A Familial Hypercholesterolemia Diagnosis

FH can't be easily seen, until the damage has progressed quite a bit. This is because the disorder affects cholesterol and the arteries that are inside the body. One of the best ways to get a familial hypercholesterolemia diagnosis is through a test at a routine physical. These blood tests are especially important if you have a family history of early heart attack, high cholesterol or heart disease.

Blood tests that reveal total cholesterol of more than:

• 300 mg/dL in adults

• 250 mg/dL in children

and LDL (low density lipoprotein, or the bad type of cholesterol) levels of more than:

• 190-400 mg/dL in adults

• 160 mg/dL in children

are considered enough for a familial hypercholesterolemia diagnosis.

It's thought that only 20% of Americans with FH have received a familial hypercholesterolemia diagnosis. This means that over half of a million people have not been properly diagnosed.

Physical Signs Of FH

Although everyone should have a yearly physical, some people do put off going to the doctor. However, if you see the following symptoms, it's important to get to the doctor right away. These symptoms include visible yellow fatty deposits near the eyes, known as xanthelasmas, and other deposits on the ankles, knees, elbows and hands, known as xanthomas. If you see these, your body needs attention, whether you have high cholesterol because of FH or lifestyle.

What Happens After The Familial Hypercholesterolemia Diagnosis?

While quitting smoking, managing your diet, and exercising can help if you have lifestyle induced heart disease, people with FH will almost always require medication to lower their LDL. In some extreme cases, people with FH need to have weekly or biweekly LDL-apheresis. During the procedure, LDL cholesterol is removed from the blood, in a method that's similar to kidney dialysis. LDL-apheresis can be time consuming and is quite expensive, which means it's used only in the most severe cases.

If you have a family history of high blood pressure and heart disease, make sure to talk to your doctor regarding that chances that you were born with FH. If you know that you have FH and you have children, it's also important to get them tested at a very early age. If you or your children do have the disorder, realize that there's no cure, but with treatment, sufferers can live a full life.

The FH Foundation works to raise awareness about familial hypercholesterolemia and getting a familial hypercholesterolemia diagnosis. 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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