Early Detection
Early detection for FH along with accurate diagnosis and treatment can lead to a normal life span. If you have a family history of cardiovascular disease, early detection is key. The sooner you detect issues, the easier it will be to manage the disorder.1

Indicators of an FH diagnosis

There are two main indicators of an FH diagnosis:

High Cholesterol

High levels of LDL-cholesterol*,
which do not go down with diet
and exercise.

icon family history

Family History

Family history of early heart
disease and/or heart attacks.

Sometimes there are visible signs of FH, especially when the LDL-cholesterol is very high. These include:1

  • Xanthomas, which are bumps/lumps around the knuckles, elbows, and knees. These are formed when excess cholesterol deposits on tendons or under the skin. They may be noticed by a dermatologist. 
  • Tendon xanthomas, which are swollen or painful achilles tendons. This happens due to excess cholesterol deposits in the tendons, making them enlarged and may cause pain when wearing shoes.
  • Xanthelasmas, which are yellowish areas around the eyes or a white arc near the colored part of the eye (“corneal arcus”). These may be noticed by an ophthalmologist.


Screen Family Members


In the case of FH, it is vital to communicate with your family members about the disease to help keep them safe and healthy. Each child of a person with FH has a 50 percent chance of inheriting the disorder. This means it is essential to screen parents, siblings, and children of a person diagnosed with FH. Your doctor will work with you to see that all necessary tests are completed and all of your questions are answered.2

Late intervention or undertreatment of individuals with FH have up to a 20-fold increased lifetime risk of early coronary artery disease (CAD) and death.3