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What is Familial Hypercholesterolemia and Why Should You Care?
Published: Dec 02, 2023
Familial hypercholesterolemia (FH) is an inherited condition that causes dangerously high cholesterol levels from birth. Left untreated, it can lead to early heart disease.
The FH Basics
FH is caused by genetic mutations that impair the body's ability to remove LDL (bad) cholesterol from the blood. People with FH have very high LDL levels from an early age, often over 190 mg/dL. There are two types: heterozygous FH (inherited from one parent) and homozygous FH (inherited from both parents). Homozygous FH is rarer but more severe.
Why FH is Dangerous
The extremely high cholesterol levels in FH cause fatty buildups in arteries starting in childhood. This leads to early atherosclerosis and heart disease, sometimes even heart attacks in young adults. Without treatment, men with FH have a 50% risk of heart attack by age 50 and women have a 30% risk by age 60.
Diagnosing FH
FH is diagnosed through a combination of family history, physical exam, and blood tests. Key signs include very high LDL cholesterol, family history of early heart disease, and cholesterol deposits in the skin or eyes called xanthomas. Genetic testing can confirm the diagnosis.
Frequently Asked Questions
Heterozygous FH affects about 1 in 250 people.
FH can't be cured, but it can be effectively managed.
Treatment often begins in childhood, as early as age 8-10.
Knowledge is Power
Understanding FH is the first step to protecting your heart health if you're at risk.
References
- Nordestgaard BG, et al. Eur Heart J. 2013;34(45):3478-3490.
- Sturm AC, et al. J Am Coll Cardiol. 2018;72(6):662-680.
- Gidding SS, et al. Circulation. 2015;132(22):2167-2192.
This article has been reviewed for accuracy by one of the licensed medical doctors working for Doctronic. Always discuss health information with your healthcare provider.
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