Familial Hypercholesterolemia

What Is Familial Hypercholesterolemia? 

Familial hypercholesterolemia (FH) is a common condition, but it is also underdiagnosed. FH causes LDL or “bad” cholesterol to build up in the arteries. This makes your arteries hard and narrow, which can restrict blood flow.

If FH is not treated, it can lead to heart disease, a heart attack, or stroke at a young age.

People with FH have a higher risk of heart disease at a younger age. Men with FH may have a heart attack before age 50 and women before age 60.

FH can be life-threatening. The experienced team at Emory Heart & Vascular can help you manage FH to reduce your risk of heart disease.   

Who Is at Risk? 

FH is genetic, which means it is inherited. People with FH often have a family history of high cholesterol and early heart disease or heart attacks.

If you or one of your family members has FH, your parents, siblings and children should also undergo screening.

Early detection is key. The Emory FIND (Flag, Identify, Network and Deliver) FH initiative helps identify and screen high-risk individuals.

Genetic tests can confirm FH, but these tests are not always necessary. However, they can help determine if other family members are also at risk.

If you have FH, your doctor will usually recommend that your siblings, parents and children be checked as well.

Diagnosing familial hypercholesterolemia

Your doctor will ask for your family history and do a physical exam. You also will have a blood test to check your LDL level.

When LDL levels remain very high even after lifestyle changes, FH is often present. High LDL levels are over 190 mg/dL for adults and over 160 mg/dL for children.

Genetic tests can confirm FH but are not always necessary. However, they can help determine if other family members are also at risk.

If you have FH, your doctor will usually recommend that your siblings, parents and children be checked as well.

While FH is common, affecting 1 in 250 people, it is vastly under-diagnosed, making screening for FH very important. Early detection of FH is especially necessary to help reduce your risk of developing cardiovascular disease, because people with FH are often born with high levels of cholesterol.

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