Indicators of an FH diagnosis
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.
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
- “Diagnosing Familial Hypercholesterolemia”. Family Heart Foundation, https://familyheart.org/diagnosing-familial-hypercholesterolemia
- Knowles, Joshua W et al. “Reducing the burden of disease and death from familial hypercholesterolemia: a call to action.” American heart journal vol. 168,6 (2014): 807-11. doi:10.1016/j.ahj.2014.09.001