Familial Hypercholesterolemia

What is Familial Hypercholesterolemia?

Familial hypercholesterolemia is a genetic condition that causes dangerously high cholesterol levels from birth. People with this disorder have defective LDL receptors, which are proteins that remove cholesterol from the blood. Without working receptors, cholesterol builds up in the bloodstream and can reach levels over 300 mg/dL.

This inherited disorder affects about 1 in 250 people in the United States. It significantly increases the risk of early heart disease and heart attacks, sometimes as early as the 30s or 40s. There are two forms of this condition. The more common heterozygous form happens when you inherit one abnormal gene from one parent. The rare homozygous form occurs when you inherit two abnormal genes, one from each parent, and causes even more severe cholesterol elevations.

Early detection through blood testing is critical for managing this condition. When identified and treated early, people with familial hypercholesterolemia can significantly reduce their risk of heart disease. Treatment focuses on lowering cholesterol levels through lifestyle changes and medications to protect heart health over the long term.

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Symptoms

Yellowish deposits of cholesterol around the eyes, called xanthelasma
Cholesterol deposits in tendons, especially the Achilles tendon and hands
A white or gray ring around the cornea, known as corneal arcus
Chest pain or angina, especially in untreated cases
Fatty lumps under the skin, called xanthomas
Early heart disease or heart attacks, often before age 55 in men and 65 in women
Leg pain or cramping during exercise due to narrowed arteries

Many people with familial hypercholesterolemia have no obvious symptoms in childhood or early adulthood. The condition often goes undetected until a routine blood test shows very high cholesterol levels. Some individuals may not develop visible signs like xanthomas or corneal arcus until later in life, making blood testing essential for early diagnosis.

Causes and risk factors

Familial hypercholesterolemia is caused by mutations in genes that control how your body removes LDL cholesterol from the blood. The most common mutations affect the LDLR gene, which provides instructions for making LDL receptors. Other mutations can affect the APOB gene or the PCSK9 gene. These genetic defects are inherited from parents and present from birth, causing lifelong elevated cholesterol levels.

Risk factors include having a parent with very high cholesterol or early heart disease. If one parent carries the gene mutation, each child has a 50% chance of inheriting the condition. Family history of heart attacks before age 55 in men or 65 in women is a major warning sign. Unlike other forms of high cholesterol, familial hypercholesterolemia is not caused by diet or lifestyle alone, though these factors can make cholesterol levels even worse.

How it's diagnosed

Familial hypercholesterolemia is diagnosed through blood tests that measure cholesterol levels. Total cholesterol levels above 300 mg/dL or LDL cholesterol above 190 mg/dL in adults raise strong suspicion for this condition. LDL particle number testing provides additional information about the severity of the disorder. These blood tests can identify the condition before physical symptoms appear, allowing for early treatment.

Rite Aid offers testing for familial hypercholesterolemia at Quest Diagnostics locations nationwide. Our flagship panel measures total cholesterol, LDL cholesterol, LDL particle number, and LDL medium particles to screen for this genetic disorder. Your doctor may also consider your family history and physical signs like xanthomas or corneal arcus. Genetic testing can confirm the diagnosis by identifying the specific gene mutation, though blood tests are usually sufficient to start treatment.

Treatment options

Statin medications to lower LDL cholesterol, often at higher doses than typical
Ezetimibe to reduce cholesterol absorption from food
PCSK9 inhibitors, which are injectable medications for severe cases
Bile acid sequestrants to help remove cholesterol from the body
A heart-healthy diet low in saturated fat and trans fat
Regular exercise, aiming for 150 minutes per week of moderate activity
Avoiding smoking and limiting alcohol consumption
Maintaining a healthy weight through nutrition and physical activity
LDL apheresis, a procedure similar to dialysis, for homozygous cases that do not respond to medications
Regular monitoring with blood tests every 3 to 6 months to track treatment progress

Frequently asked questions

Familial hypercholesterolemia is a genetic disorder present from birth that causes severely elevated cholesterol levels. Regular high cholesterol usually develops later in life due to diet, lifestyle, and aging. People with familial hypercholesterolemia have defective genes that prevent their bodies from removing LDL cholesterol properly, regardless of diet.

Children with a family history of very high cholesterol or early heart disease should be tested between ages 9 and 11. Early testing allows for early treatment, which can prevent heart disease later in life. Siblings and children of people with familial hypercholesterolemia should definitely be screened.

Familial hypercholesterolemia cannot be cured because it is a genetic condition. However, it can be effectively managed with medications and lifestyle changes. Early and aggressive treatment can lower cholesterol levels significantly and reduce the risk of heart disease to near normal levels.

Adults with heterozygous familial hypercholesterolemia typically have total cholesterol levels between 300 and 500 mg/dL without treatment. LDL cholesterol is usually above 190 mg/dL. People with the homozygous form can have total cholesterol levels above 600 mg/dL and may develop heart disease in childhood.

Diet changes help but are usually not enough on their own for familial hypercholesterolemia. A heart-healthy diet low in saturated fat can lower cholesterol by 10 to 15%, which is helpful but insufficient. Most people with this condition need cholesterol-lowering medications in addition to dietary changes to reach safe cholesterol levels.

Statins are the first-line treatment and can lower LDL cholesterol by 30 to 50%. Many people also need additional medications like ezetimibe or PCSK9 inhibitors to reach target levels. PCSK9 inhibitors are particularly effective and can lower LDL cholesterol by an additional 50 to 60%.

Most doctors recommend testing every 3 to 6 months when starting or adjusting medications. Once your cholesterol is stable and at target levels, testing every 6 to 12 months is usually sufficient. Regular monitoring ensures your treatment is working and allows your doctor to adjust medications as needed.

Heterozygous familial hypercholesterolemia affects about 1 in 250 people, making it one of the most common genetic disorders. Many people have the condition without knowing it. The homozygous form is much rarer, affecting about 1 in 300,000 people.

Without treatment, men with familial hypercholesterolemia have about a 50% risk of heart disease by age 50. Women have about a 30% risk by age 60. Early diagnosis and aggressive treatment can reduce this risk to levels similar to the general population.

Yes, all first-degree relatives should be tested because familial hypercholesterolemia is inherited. Your parents, siblings, and children each have a 50% chance of having the condition if you have the heterozygous form. Early detection in family members allows for early treatment and better outcomes.