Familial Hypercholesterolemia

Familial Hypercholesterolemia is an inherited genetic condition that causes abnormally high levels of low-density lipoprotein cholesterol from birth. Elevated cholesterol leads to the early development of atherosclerosis, significantly increasing the risk of heart attack, stroke, and other cardiovascular diseases at a young age.

The condition is commonly inherited in an autosomal dominant pattern, meaning one affected parent can pass it on to a child. Early diagnosis and lifelong management are essential to reduce cardiovascular risk.

Symptoms

Many people with Familial Hypercholesterolemia do not experience noticeable symptoms until cardiovascular disease develops. When symptoms are present, they may include:

• Chest pain due to coronary artery disease

• Shortness of breath during physical activity

• Fatty deposits under the skin, especially on elbows, knees, hands, or buttocks

• Yellowish patches around the eyes

• Thickened or swollen Achilles tendon

In severe cases, heart disease may occur during childhood or early adulthood.

Causes

Familial Hypercholesterolemia is caused by mutations in genes responsible for removing low-density lipoprotein cholesterol from the bloodstream. These mutations impair the liver’s ability to clear cholesterol effectively, resulting in persistently high levels.

The most commonly affected genes include those involved in LDL receptor function and cholesterol transport. The severity depends on whether one or both gene copies are affected.

Risk Factors

The strongest risk factor is a family history of very high cholesterol or early cardiovascular disease. Additional factors that may worsen outcomes include:

• Smoking

• High blood pressure

• Diabetes

• Obesity

• Sedentary lifestyle

Although lifestyle factors do not cause the condition, they can accelerate complications.

Complications

If left untreated, Familial Hypercholesterolemia can lead to serious complications such as:

• Early-onset coronary artery disease

• Heart attack at a young age

• Stroke

• Peripheral artery disease

• Narrowing of heart valves, particularly the aortic valve

These complications may occur decades earlier than in the general population.

Prevention

Familial Hypercholesterolemia cannot be prevented because it is inherited, but the risk of complications can be significantly reduced with early and ongoing care:

• Cholesterol screening in childhood for at-risk families

• Genetic testing and family cascade screening

• Lifelong cholesterol-lowering treatment as advised by a healthcare provider

• Heart-healthy diet and regular physical activity

• Avoidance of smoking and effective management of other cardiovascular risk factors

Timely diagnosis and consistent treatment greatly improve long-term cardiovascular outcomes.