Can I get tested for Familial Hypercholesterolemia?

Familial Hypercholesterolemia (FH) is regularly described as an “invisible” disease because often people do not show visible signs of FH.

There are two main indicators of an FH diagnosis:

  • High levels of LDL-cholesterol*, which do not go down with diet;
  • Family history of early heart disease and/or heart attacks.

If FH is severe, some people may develop physical symptoms.

Your doctor may suspect you have FH if:

  • There is a history of early cardiovascular disease in your close family members
  • You are a man and have a heart attack before the age of 50, or 60 in a woman
  • Your cholesterol is very high and other causes have been ruled out
  • Other family members have been diagnosed with FH
  • You have any physical signs of FH

When trying to diagnose possible FH, it is crucial to pick up on the visible symptoms, if they are present. Not all people with FH will develop these signs, but many will.  

* Patients may develop xanthomas, or fatty skin deposits, on their hands, elbows, knees, and ankles.

* Cholesterol deposits may also be visible on the eyelids, a condition called xanthelasmas.  They may have coreal arcus, or a grey ring visible around the cornea of the eye.

* People with FH often do not learn that they have it until they have a heart attack or other physical symptoms of heart disease.  Physical symptoms of heart disease, especially at an early age and along with elevated LDL levels can be signs of possible FH.

To make a diagnosis of FH, your doctor will:

  • Arrange for you to have a fasting blood test to check the levels of cholesterol in your blood
  • Do a physical examination to check for signs of FH on your body
  • Ask you some questions about your family history
  • They may also arrange for you to have a genetic test– but this is not available everywhere.