Learn How To Talk To Your Physician About A Familial Hypercholesterolemia Diagnosis


Every year, smoking, a sedentary lifestyle and diets that are seriously lacking in proper nutrition contribute to thousands of cases of heart disease, heart attacks, strokes, high cholesterol and ultimately, death. For many Americans, a conscious effort to change the behaviors that led to these health problems can help reduce or reverse the effects of cardiovascular disease. However, for some people with a genetic disorder known as familial hypercholesterolemia, lifestyle changes aren’t enough. If you suspect you have familial hypercholesterolemia, pay your doctor a visit to discuss a possible familial hypercholesterolemia diagnosis and a treatment plan.

What To Discuss With Your Physician About A Familial Hypercholesterolemia Diagnosis

FH takes place inside the body, which means it’s difficult to see physical warning signs and it’s thought that only about 10% of Americans who have FH have received a familial hypercholesterolemia diagnosis. Because of this, one way to get a familial hypercholesterolemia diagnosis is through blood tests that measure the levels of cholesterol in the arteries. However, doctors know that there is good cholesterol and bad cholesterol in the body, so your physician should order a test measuring both total cholesterol and bad cholesterol, also called lipoprotein or LDL-C.

Total cholesterol levels of more than 300 mg/dL in adults and 250 mg/dL in children are concerning. LDL-cholesterol levels of more than 190 mg/dL in adults and 160 mg/dL in children definitely point to a doctor’s visit, particularly a lipid specialist (lipidologist).

Physical Familial Hypercholesterolemia Signs

After FH has progressed quite a bit, physical symptoms can appear. If you see these signs, it’s vital to go to the doctor immediately to discuss a possible a familial hypercholesterolemia diagnosis. Signs include xanthomas, which are yellow cholesterol deposits that can appear on the hands (knuckles), ankles (tendons), knees and elbows, and xanthelasmas, which are deposits located on the eyelids or underneath the eyes. These deposits don’t automatically mean that you’ll receive a familial hypercholesterolemia diagnosis, but they do mean that you need help lowering your cholesterol.

After The Familial Hypercholesterolemia Diagnosis: What To Do

Once you’ve received a familial hypercholesterolemia diagnosis, it’s important to change any negative lifestyle habits. This means you need to quit smoking, exercise and eat well. However, although every little helps, you will still likely need medication. Most, if not all, people with a familial hypercholesterolemia diagnosis will eventually need to be placed on cholesterol-lowering drugs such as statins, for example. If this is not effective enough, they may also need a procedure called LDL-apheresis (or lipid apheresis). An LDL-apheresis is similar to kidney dialysis and works to remove the excess cholesterol from the blood. You may need to speak to a lipid specialist to find out if this is the right therapy for you.

If your parents or grandparents suffered from cardiac disease from a young age, make sure to talk to your doctor about a possible familial hypercholesterolemia diagnosis. Arming yourself with the information necessary to treat the disease will make it easier to live with FH and help ensure that you don’t suffer from a heart attack or stroke. the Family Heart Foundation can help you learn more about living with the disease and offers resources for additional information.

the Family Heart Foundation can help.

As an organization centered around raising awareness of FH, we’re here to help with your journey. Become a member today to learn more.

One Response to “Learn How To Talk To Your Physician About A Familial Hypercholesterolemia Diagnosis”

  1. Sandra Hidalgo

    I am so relieved that FDA approved this drug. I was dignosed with this disease about 1 year
    ago. I will speak to my physician about this. Thank you so much for all you do! Great organization…………


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