High cholesterol is one of the most common health concerns worldwide, but not all cases are the same. While lifestyle factors like diet and exercise play a big role in cholesterol levels, some people inherit a genetic condition that makes their cholesterol dangerously high from birth. This condition is called Familial Hypercholesterolemia (FH).
If you’ve ever wondered whether you should get tested for FH, this article will break down everything you need to know—from what FH is, why it matters, who should get tested, and what happens if you test positive.
What Is Familial Hypercholesterolemia?
Familial Hypercholesterolemia (FH) is a genetic disorder that causes extremely high levels of low-density lipoprotein cholesterol (LDL-C), often referred to as “bad cholesterol.” Unlike high cholesterol caused by lifestyle factors, FH is present from birth because of a mutation in one of the genes responsible for removing LDL cholesterol from the blood.
People with FH can have LDL cholesterol levels two to four times higher than normal, even if they live a healthy lifestyle. Without treatment, FH significantly increases the risk of early heart disease, heart attacks, and strokes.
How Common Is Familial Hypercholesterolemia?
You might think FH is rare, but it’s more common than many realize. It is estimated that:
- About 1 in 250 people worldwide has FH.
- In the United States, more than 1.3 million people may have FH, but 90% of them are undiagnosed.
That means thousands of people are living with dangerously high cholesterol without knowing it. Early detection through testing is critical.
Why Is FH Dangerous?
Cholesterol buildup happens gradually over time. For most people, high cholesterol becomes a risk in middle age. But for someone with FH, high LDL levels start from birth, leading to early and aggressive plaque buildup in the arteries.
If untreated, FH can cause:
- Heart attacks at a young age (sometimes in the 30s or even 20s)
- Stroke risk at a younger age than normal
- Sudden cardiac death
The good news? With early diagnosis and treatment, these risks can be greatly reduced.
Should You Get Tested for FH? Who Is at Risk?
You should consider getting tested if:
1. You Have Extremely High LDL Cholesterol
- LDL cholesterol above 190 mg/dL in adults or 160 mg/dL in children may be a sign of FH.
2. You Have a Family History of Early Heart Disease
- Heart attacks, strokes, or other heart-related conditions in family members before age 55 in men or 65 in women are a red flag.
3. Multiple Family Members Have High Cholesterol
- If several relatives have high cholesterol despite healthy lifestyles, FH could be the cause.
4. You Notice Physical Signs
- Rarely, FH can cause cholesterol deposits on the skin or around the eyes (called xanthomas or xanthelasmas) and a white ring around the cornea (arcus cornealis).
How Is FH Diagnosed?
Testing for FH usually involves:
- Blood Tests: To check LDL cholesterol levels.
- Genetic Testing: The most accurate way to confirm FH. It looks for mutations in genes such as LDLR, APOB, or PCSK9.
- Family Screening: If one person is diagnosed, other family members should be tested too (this is called cascade screening).
What Happens If You Test Positive for FH?
Testing positive for FH can sound scary, but it’s actually a step toward better health. Here’s what usually happens:
- Lifestyle Changes
- Heart-healthy diet (low in saturated fat, trans fat, and cholesterol)
- Regular physical activity
- Weight management
- Medication
- Statins are the first line of treatment for lowering LDL cholesterol.
- Other medications include ezetimibe and PCSK9 inhibitors for those who need additional lowering.
- Family Testing
- Since FH is genetic, family members should be screened. Early treatment can prevent life-threatening events.
Why Early Detection Matters
The earlier FH is detected, the better. Treating FH in childhood or early adulthood can normalize life expectancy. Without treatment, people with FH are at a 20 times higher risk of heart disease than the general population.
Can FH Be Cured?
Currently, FH cannot be cured because it’s genetic, but it can be managed effectively. With the right combination of lifestyle changes, medication, and regular monitoring, people with FH can live long and healthy lives.
Key Takeaways: Should You Get Tested?
If you have:
- High LDL cholesterol levels
- A family history of early heart disease
- Relatives with high cholesterol
Then YES—you should consider testing for FH. Early detection can save your life.
Final Thoughts
Familial Hypercholesterolemia is a silent but serious condition. The sooner you know, the sooner you can act. Talk to your doctor about testing if you’re at risk, and encourage your family members to do the same. Your future heart health may depend on it.
