What is familial hypercholesterolemia?

Familial hypercholesterolemia is a condition where the body affects the way cholesterol is processed. Due to this reason, patients who have familial hypercholesterolemia have a higher risk of developing heart disease making them more prone to having a heart attack.

The gene that causes this condition is inherited and is present in the body from birth. Treatments such as medications and lifelong lifestyle behaviors can help reduce the risk of developing heart disease or having a heart attack.

 

 

Who is impacted?

 

Those affected are already born with a defect/mutation in their genetic makeup. This mutation prevents the body from removing low-density (LDL) cholesterol, the “bad” cholesterol, from the  blood. As a result, plaques can cause your arteries to narrow and harden, increasing the risk of developing heart disease. Genetic testing can help reveal whether this mutation is present or not.

 

 

How is familial hypercholesterolemia diagnosed?

 

Diagnosis of familial hypercholesterolemia is based on physical examination and laboratory testing. Physical examination may find xanthomas and xanthelasmas (skin lesions caused by cholesterol rich lipoprotein deposits), and cholesterol deposits in the eye called corneal arcus.

 

 

How is familial hypercholesterolemia treated?

 

The ultimate goal is reduce the risk of atherosclerotic heart disease by lowering the LDL cholesterol levels in the blood stream. The atherosclerotic material thickens, hardens, can eventually block the arteries. When fat, cholesterol and other substances buildup in arteries, atherosclerosis occurs. Blood cannot flow through these arteries leading to a heart attack or stroke.

 

The initial step in treatment is for an individual who has heterozygous familial hypercholesterolemia is changing the diet to reduce the total amount of fat eaten to 30% of the total daily calories. Drug therapy is usually in combination with diet, weight loss, and exercise because these can’t lower cholesterol levels by itself. There are a number of effective cholesterol-lowering agents.

 

Those with homozygous familial hypercholesterolemia need aggressive therapies to treat their significantly elevated levels of cholesterol. Drug therapies aren’t typically enough. These patients may require periodical LDL apheresis, a procedure to ‘clean up’ LDL from the bloodstream, or highly invasive surgery such as a liver transplant.

 

https://www.genome.gov/25520184/learning-about-familial-hypercholesterolemia/