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A diagnosis of familial hypercholesterolemia (FH) is usually based on:

  • A review of your family history. Your doctor will want to know if a first-degree relative has: FH, very high LDL cholesterol, or has had/died from heart disease at an early age.
  • A physical exam, to look for any physical signs.
  • A lipid panel, a blood test that measures cholesterol levels in your blood.

For the most part, LDL cholesterol is considered borderline high when the reading is between 130 and 159 ml/dL and high when it is over 160 ml/dL in adults. But in people with FH, LDL numbers tend to be much higher on average.

  Adults with FH
(one parent)
 Children with FH
(one parent)
 LDL levels
 >190 ml/dL >160 ml/dL

Your health care team will also want to rule out other conditions that may affect LDL levels, for example, kidney, liver or thyroid disease or eating disorders.   

If you have FH, you may be referred to a preventive cardiologist, endocrinologist or lipidologist—a doctor who specializes in treating high cholesterol or lipid disorders.

What About Genetic Testing?

Genetic testing is sometimes done, but it’s not always needed. It may not help find FH because the test doesn’t pick up all the gene mutations that cause the condition. In other words, a genetic test could come back as negative, but the person has FH.

When Should Screening Begin?

Two types of screening approaches can be used to find FH: universal and cascade. The American Academy of Pediatrics, for example, recommends that all children have their cholesterol levels checked by ages 9 to 11 years old. This universal screening approach can identify children with high LDL cholesterol that are caused by genetics or lifestyle, given the growing number of children who are overweight.

If you have FH, “family tracing” or “cascade screening” with lipid and/or genetic testing can help identify other first-degree family members who might be affected. If there is suspected or confirmed FH in a parent, consider screening children before 9 years old.

  • Last Edited 03/31/2019