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Familial Hypercholesterolemia: The Hidden Heart Threat in Your Genes
Published: Jun 04, 2024
Familial Hypercholesterolemia (FH) is a genetic condition that can silently damage your heart. It causes dangerously high cholesterol levels from birth, putting you at risk for early heart disease.
The Genetic Culprit
FH is caused by mutations in genes that help remove cholesterol from your blood. These faulty genes are passed down in families, which is why FH runs in families. There are three main genes involved: LDLR, PCSK9, and APOB. When one of these genes doesn't work properly, your body can't get rid of excess cholesterol effectively.
Signs and Symptoms
Many people with FH don't know they have it until they develop heart problems at a young age. Some visible signs include yellowish patches around the eyes or bumps on tendons, especially the Achilles tendon. The main danger is the buildup of cholesterol in arteries, which can lead to heart attacks or strokes much earlier than usual.
Diagnosis and Testing
FH is usually suspected when a person has very high LDL (bad) cholesterol levels, typically over 190 mg/dL in adults. Family history of early heart disease is another clue. Doctors may use special criteria or genetic testing to confirm the diagnosis. It's important to test family members of someone with FH, as they have a 50% chance of having it too.
Frequently Asked Questions
It affects about 1 in 250 people worldwide.
There's no cure, but it can be managed effectively with treatment.
Children in affected families should be tested by age 2.
Severity varies, but untreated FH significantly increases heart disease risk.
The Bottom Line
Early detection and treatment of FH can add decades to your life by preventing premature heart disease.
References
- Nordestgaard BG, et al. Eur Heart J 2013; 34:3478.
- Khera AV, et al. J Am Coll Cardiol 2016; 67:2578.
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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