Question 1

What is Familial hypercholesterolemia?

Accepted Answer

Familial hypercholesterolemia is an inherited genetic disorder that causes extremely high levels of LDL cholesterol from birth. It is caused by mutations in genes responsible for removing LDL cholesterol from the bloodstream, particularly the LDLR gene. The Direct LDL test is the most important test for diagnosis because it directly measures LDL cholesterol levels, which typically exceed 190 mg/dL in people with this condition.

Question 2

What causes familial hypercholesterolemia?

Accepted Answer

Familial hypercholesterolemia is caused by inherited mutations in genes that control how your body removes LDL cholesterol from your blood. The most common mutations affect the LDLR gene, which produces LDL receptors on liver cells that normally pull cholesterol out of your bloodstream. When these receptors do not work properly due to genetic defects, LDL cholesterol builds up to dangerous levels from birth, often reaching 190 mg/dL or higher even in children.

Question 3

What is the best test for familial hypercholesterolemia?

Accepted Answer

The Direct LDL test is the most important test for familial hypercholesterolemia because it directly measures the exact amount of LDL cholesterol in your blood, which is the hallmark of this genetic condition. People with familial hypercholesterolemia typically have LDL levels above 190 mg/dL, and this test provides the precise measurement needed for diagnosis and monitoring treatment effectiveness. While genetic testing can confirm the specific mutation, the Direct LDL blood test is essential for initial screening, diagnosis, and ongoing management to ensure cholesterol-lowering medications are working properly.

Question 4

When should I get tested for familial hypercholesterolemia?

Accepted Answer

You should get tested if you have a family history of high cholesterol, early heart attacks (before age 55 in men or 65 in women), or if you notice yellowish cholesterol deposits on your skin or around your eyes called xanthomas. Children with a parent who has familial hypercholesterolemia should be tested between ages 2 and 10. Adults with unexplained high cholesterol levels or those who have had heart disease at a young age should also get tested immediately, as early detection and treatment can prevent life-threatening heart attacks.

Question 5

What are the symptoms of familial hypercholesterolemia?

Accepted Answer

Many people with familial hypercholesterolemia have no symptoms until they develop heart disease. Visible signs can include yellowish cholesterol deposits called xanthomas on the skin, tendons, or elbows, and yellowish rings around the cornea of the eye called corneal arcus. The most serious symptom is early-onset chest pain or heart attack, which can occur in your 30s, 40s, or 50s without treatment. Some people may experience leg pain or cramping due to narrowed arteries, but often the first sign is a cardiovascular event.

Question 6

Who is at risk for familial hypercholesterolemia?

Accepted Answer

Anyone with a parent who has familial hypercholesterolemia has a 50% chance of inheriting the condition, as it follows an autosomal dominant pattern. The condition affects approximately 1 in 250 people, making it one of the most common genetic disorders. People of certain ethnic backgrounds, including French Canadians, Lebanese, and Ashkenazi Jews, have higher rates due to founder effects. If you have family members who had heart attacks before age 55 (men) or 65 (women), your risk is significantly elevated.

Question 7

What happens if familial hypercholesterolemia is left untreated?

Accepted Answer

Untreated familial hypercholesterolemia leads to severe premature cardiovascular disease, with men often experiencing heart attacks in their 40s or 50s and women in their 50s or 60s. The constant exposure to extremely high LDL cholesterol causes rapid buildup of plaque in coronary arteries, leading to coronary artery disease, angina, heart attacks, and stroke at young ages. Without treatment, up to 50% of men with this condition will have a heart attack by age 50, and the risk remains extremely high for women as well. Early death from heart disease is common without proper cholesterol management.

Question 8

Can familial hypercholesterolemia be diagnosed with a blood test?

Accepted Answer

Yes, familial hypercholesterolemia can be diagnosed with a blood test that measures your LDL cholesterol levels. The Direct LDL test is the primary screening and diagnostic tool, showing LDL cholesterol levels typically above 190 mg/dL in adults with this condition. Diagnosis is based on a combination of extremely high LDL levels, family history of high cholesterol and early heart disease, and physical examination findings. Genetic testing can confirm the diagnosis by identifying the specific mutation, but the cholesterol blood test is essential for both initial diagnosis and ongoing monitoring of treatment.

Question 9

How is familial hypercholesterolemia treated?

Accepted Answer

Treatment involves aggressive cholesterol-lowering medications, primarily high-dose statins like atorvastatin or rosuvastatin, often combined with additional drugs such as ezetimibe, PCSK9 inhibitors, or bempedoic acid to reach target LDL levels below 100 mg/dL. Lifestyle changes including a heart-healthy diet low in saturated fat, regular exercise, maintaining healthy weight, and avoiding smoking are essential complementary measures. In severe cases that do not respond to medications, LDL apheresis (a procedure that filters cholesterol from the blood) may be necessary. Early and aggressive treatment is critical to prevent heart disease.

Question 10

How can I prevent complications from familial hypercholesterolemia?

Accepted Answer

You cannot prevent the genetic condition itself, but you can prevent its complications through early diagnosis and lifelong treatment with cholesterol-lowering medications. Regular monitoring with Direct LDL blood tests helps your doctor adjust medications to keep cholesterol at safe levels. Adopting a Mediterranean-style diet rich in fruits, vegetables, whole grains, and healthy fats, exercising regularly, maintaining a healthy weight, and never smoking are crucial preventive measures. Family screening is also important so that relatives with the condition can start treatment early before heart damage occurs.

Question 11

What lifestyle changes help with familial hypercholesterolemia?

Accepted Answer

While lifestyle changes alone cannot control familial hypercholesterolemia, they provide important support to medication therapy. Follow a diet rich in soluble fiber from oats, beans, and vegetables, and include healthy fats from olive oil, avocados, nuts, and fatty fish while avoiding saturated fats and trans fats. Aim for at least 150 minutes of moderate aerobic exercise weekly, such as brisk walking or cycling. Maintain a healthy body weight and avoid all tobacco products. Adding plant sterols and stanols found in fortified foods can help lower cholesterol slightly, but remember that medications are essential for managing this genetic condition.

Question 12

How’s this work?

Accepted Answer

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Question 13

How do I know which test to get?

Accepted Answer

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Question 14

When will my lab results be available?

Accepted Answer

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Question 15

Is it possible to make changes to my lab order if I made a mistake with the name, date of birth, or any other details?

Accepted Answer

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Question 16

Do you accept health insurance?

Accepted Answer

Only HSA & FSA is accepted.
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Question 17

Can I cancel my order?

Accepted Answer

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Question 18

How can I find a lab location near me?

Accepted Answer

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Familial Hypercholesterolemia Blood Test

What is Familial hypercholesterolemia?

What causes familial hypercholesterolemia?

What is the best test for familial hypercholesterolemia?

When should I get tested for familial hypercholesterolemia?

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