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Early Detection

For individuals with Familial Hypercholesterolemia (FH), early detection along with an accurate diagnosis and effective treatment can significantly improve prognosis, often leading to a normal life span. If you have a family history of cardiovascular disease, seeking early detection is critical. The sooner issues are detected, the easier it will be to manage this genetic cholesterol disorder and reduce the risk of severe coronary events.1

Indicators of an FH diagnosis

There are two main indicators of an FH diagnosis:

Identifying FH early often relies on two main factors. If a patient or a child exhibits these signs, further investigation is strongly recommended:

High Cholesterol

The most striking indicator is an extremely high level of Low-Density Lipoprotein Cholesterol (LDL-C)*, often remaining high despite diet changes or standard statin therapy.

icon family history

Family History

A history of close relatives (parent, sibling, child) having suffered a heart attack, stroke, or severe cardiovascular event at an unusually young age (e.g., before the age 55 in men or 65 in women).

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.

Intervention

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

References:

  1. “Diagnosing Familial Hypercholesterolemia”. Family Heart Foundation, https://familyheart.org/diagnosing-familial-hypercholesterolemia
  2. 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