High cholesterol can be hereditary, and as a genetic disorder, the condition is called familial hypercholesterolemia (FH). When FH goes undiagnosed, it can cause dangerously high levels of cholesterol at an early age and increase the risk of heart diseases and stroke.
What causes high cholesterol?
Studies have shown that FH is caused by genetic mutations that affect the body's ability to effectively remove LDL or bad cholesterol from the bloodstream.
By age 10, children with FH often have aortic lesions and thicker carotid arteries than siblings who didn't inherit the condition. Over time, the condition can lead to atherosclerosis (build-up of plaque) and narrowing of artery walls.
Plaques can be detected in about a quarter of adolescents with FH. The signs of heart disease can show up decades earlier in people with FH compared to the general population, and their risk for premature heart disease is 22 times greater.
Ideally, LDL cholesterol levels should be kept under 100 mg/dL. But FH causes LDL cholesterol levels to go above 190 mg/dL (or a total cholesterol level above 290 mg/dL). About 50% of people with the condition will get a heart attack or stroke before the age of 60.
What are symptoms of familial hypercholesterolemia?
Many people with familial hypercholesterolemia are unaware of their condition. This is because high cholesterol levels by themselves often don’t cause any symptoms.
When cholesterol levels are extremely high, cholesterol can accumulate in areas including:
- Skin and tissue underneath the skin. This causes visible fatty growths called xanthomas (often seen over tendons in the hands and feet and the Achilles tendon).
- Around the corneas in the eyes. This appears as a white or grey ring (called arcus senilis or corneal arcus).
Symptoms of premature (early-onset) coronary heart disease, cerebrovascular disease, or peripheral artery disease may be the first sign of familial hypercholesterolemia. These conditions are defined as premature when they occur in men under age 55 and women under age 60.
How is familial hypercholesterolemia diagnosed?
Familial hypercholesterolemia can be diagnosed through your cholesterol levels and your family history of high cholesterol or early-onset heart disease. The diagnosis can be confirmed by genetic tests.
Affecting approximately 1 in 500 people, hereditary high cholesterol is the result of a malfunctioning gene that causes only half of the LDL receptors work to work. Studies show that about one in 250 people may inherit a defective cholesterol-regulating gene from one parent.
Early detection and intervention are key to preventing heart attack, stroke or cardiac arrest. So if you have close family members with a history of heart disease or high cholesterol, consider scheduling a screening with your doctor.
How is familial hypercholesterolemia treated?
Lifestyle modifications are usually the first line of treatment for people with high cholesterol. Maintaining healthy habits can help prevent the disease from causing future problems. It’s important to:
- Eat a balanced diet.
- Get a reasonable amount of exercise (150 minutes a week).
- Avoid smoking and consuming alcohol.
- Maintain a healthy body weight.
People with extremely high LDL cholesterol levels usually need to take a combination of medicines to effectively lower their cholesterol levels. Cholesterol-lowering medications include:
- Statins: Statins occasionally cause problems. Some people have a condition called statin intolerance. Patients with these problems require alternative treatments.
- Ezetimibe: This is often used when statins are not suitable or in addition to statins.
- Cholestyramine and colestipol: This can be used where statins are not suitable or in addition to statins.
- Nicotinic acid: This is sometimes used in addition to other cholesterol-lowering medicines.
- Fenofibrate: This is also sometimes used in addition to other cholesterol-lowering medicines.
- Aspirin: Some people with FH who already have coronary artery disease should also take aspirin.
A study led by Harvard Medical School scientists at Massachusetts General Hospital has shown that even among those who cannot escape the genetic risk of FH, leading a healthy lifestyle can cut the probability of a heart attack by 50%.
Although lifestyle changes can be difficult to maintain, guidance and monitoring by a doctor in the context of a structured prevention program can help reduce cholesterol by 20%-30%.
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American Heart Association. Familial Hypercholesterolemia (FH). https://www.heart.org/en/health-topics/cholesterol/causes-of-high-cholesterol/familial-hypercholesterolemia-fh
Rosenson RS, Durrington P. Familial Hypercholesterolemia in Adults: Treatment. UptoDate. https://www.uptodate.com/contents/familial-hypercholesterolemia-in-adults-treatment
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