Familial Hypercholesterolemia (FH) is an inherited condition that is caused by mutations in one or more genes and results in high levels of cholesterol in the blood, even from a young age. FH has a prevalence of approximately 1 in 250 people worldwide, making it one of the most common life-threatening hereditary conditions, yet it is greatly underdiagnosed. Undiagnosed FH significantly increases the risk of atherosclerosis, which might lead to vascular conditions, such as coronary artery disease, heart attack or stroke.
Unlike common high blood cholesterol, FH has no cure and cannot be treated only through a healthier diet and lifestyle. The key to a longer and healthier life of people affected with FH is early identification of the disease so that prompt and intensive treatment through medication can begin and prevent any associated cardiovascular complications.
Who is this test for?
Family members of a person affected by FH.
- Family Heart Foundation. (2023, February 9). Familial Hypercholesterolemia. https://familyheart.org/familial-hypercholesterolemia
- Familial Hypercholesterolemia. (2023a, January 12). National Organization for Rare Disorders. https://rarediseases.org/rare-diseases/familial-hypercholesterolemia/
- Harada-Shiba, M., Arai, H., Ishigaki, Y., Ishibashi, S., Okamura, T., Ogura, M., Dobashi, K., Nohara, A., Bujo, H., Miyauchi, K., Yamashita, S., & Yokote, K. (2018). Guidelines for Diagnosis and Treatment of Familial Hypercholesterolemia 2017. Journal of Atherosclerosis and Thrombosis, 25(8), 751–770. https://doi.org/10.5551/jat.cr003
How many genes are tested in this panel?