Overview
Your healthcare provider can make a familial hypercholesterolemia diagnosis based on:
- Unusually high LDL levels
- A history of coronary artery disease in your family or yourself at a young age
- Symptoms linked to atherosclerosis at a younger age than usual
- Abnormal skin findings like xanthomas or xanthelasmas
- DNA test results
What tests will be done to diagnose this condition?
A provider can use a lipid panel or DNA test to make a familial hypercholesterolemia diagnosis.
A lipid panel blood test measures your cholesterol levels, including your LDL cholesterol. Children with familial hypercholesterolemia can have LDL levels higher than 160 mg/dL. Adults can have LDL of 190 mg/dL or higher. In people with the severe form, homozygous familial hypercholesterolemia, LDL can be higher than 400 mg/dL.
A DNA test can find problems with one of the three genes researchers know can cause FH.
After you get an FH diagnosis, you can expect to see your provider regularly to check on your cardiovascular health.
Symptoms
When to see a doctor
Complications
- High blood pressure.
- Diabetes.
- Heart failure.
- Some types of heart valve disease.
Prevention
- Control high blood pressure, high cholesterol and diabetes.
- Don't smoke or use tobacco.
- Eat a diet that's low in salt and saturated fat.
- Exercise at least 30 minutes a day on most days of the week unless your health care team says not to.
- Get good sleep. Adults should aim for 7 to 9 hours daily.
- Maintain a healthy weight.
- Reduce and manage stress.
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