Hypercholesterolemia (Adults)

Hypercholesterolemia (Adults): Understanding Your Results

What is hypercholesterolemia?

  • People with hypercholesterolemia have high levels of cholesterol, specifically LDL cholesterol, also known as “bad” cholesterol. Over time, LDL cholesterol can build up in organs and arteries, increasing your risk for early-onset heart disease and stroke. Genetic and lifestyle factors like diet and smoking can lead to hypercholesterolemia.

What does high risk for hypercholesterolemia mean?

  • Your polygenic risk score (PRS) is in the top 3%. This means that you may have a higher genetic risk for hypercholesterolemia than 97 out of 100 people.
  • On average, about 1 out of 16 adults, or 6% of adults, in the United States has severe hypercholesterolemia. High risk for hypercholesterolemia means that your genetic risk is at least 3 times higher for developing severe hypercholesterolemia compared to a person not in the high risk category.
  • This result does not mean that you have hypercholesterolemia or that you will definitely develop hypercholesterolemia in your lifetime.
  • This polygenic risk score was created using genetic information from large research studies of people of European, African American or African, Asian, and Hispanic/Latino descent. We outline how this score was created below:
    • DNA differences in each population were picked up that are linked to hypercholesterolemia risk
    • These DNA differences were combined into a single score, called a “trans-ancestry PRS”
    • This score was tested using genetic information from other research studies with different populations and was accurate
  • Additional large research studies are needed in people from other parts of the world to provide a risk range for additional populations – see the Broad PRS report attached.

What can you do to lower your risk for hypercholesterolemia?

  • Not everyone who is at high risk for hypercholesterolemia will get it. Talk to your healthcare provider about how to decrease your chances of getting hypercholesterolemia.
  • Your doctor may suggest lifestyle changes to lower your risk, including:
    • Eating healthy foods, including fruits and vegetables, nuts, and whole grains
    • Keeping your weight in a healthy range
    • Exercising moderately, such as brisk walking or bicycling, for 30 minutes at least 5 days a week
    • Stopping smoking
  • Your doctor may perform a simple blood test that measures cholesterol levels in the body to diagnose hypercholesterolemia. They might also recommend taking a cholesterol-lowering medication.

What are your next steps?

  • Your results indicate a high risk for developing hypercholesterolemia. Based on this information, the following actions are recommended:
    • You should share these results with your doctor(s) or other healthcare provider to discuss actions to be taken to lower your risk. Your doctor may make a referral to a specialist to discuss screening options, evaluation of family members, and other risk-reducing strategies.
    • You should talk with your family members and encourage them to discuss your family medical history and your test result with their own healthcare providers.
    • If you have any questions about your results, please contact the study team at your institution. You can find this contact information on the cover page of the GIRA.

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