Cholesterol is a waxy substance present in our body cells. It is an essential component of cell membranes, and it also helps in the production of hormones and bile acids. Our body produces cholesterol on its own, but we also get it from our diet.

Having too much cholesterol in the blood can lead to several health problems, including heart disease, stroke, and peripheral artery disease.

High cholesterol levels in the blood can be due to many reasons. Lifestyle factors such as poor diet, lack of physical activity, and smoking are some of the common causes of high cholesterol.

However, in some cases, high cholesterol levels are primarily due to genetics. Inherited high cholesterol, also known as familial hypercholesterolemia (FH), is a genetic disorder that affects the way the body processes cholesterol.

What is Inherited High Cholesterol?

Inherited high cholesterol, or familial hypercholesterolemia (FH), is a genetic disorder that causes high levels of low-density lipoprotein (LDL) cholesterol.

LDL is often referred to as “bad” cholesterol because it carries cholesterol to the arteries, leading to plaque buildup. FH is caused by mutations in genes that encode for proteins responsible for removing LDL cholesterol from the blood. As a result, the body is unable to clear excess cholesterol from the bloodstream, leading to high levels of LDL.

The inherited form of high cholesterol affects approximately 1 in 250 people, making it one of the most common genetic disorders.

FH is an autosomal dominant genetic disorder, which means that an affected individual only needs to inherit one copy of the mutated gene from either parent to develop the condition.

Signs and Symptoms of Inherited High Cholesterol

Most people with inherited high cholesterol do not show any signs or symptoms until they have developed complications associated with high cholesterol levels.

The build-up of cholesterol in the arteries can lead to the development of atherosclerotic plaques, which narrow and harden the arteries. This process can lead to many health complications such as:.

Chest pain (angina)
Heart attack
Stroke
Peripheral artery disease
Pancreatitis

It is essential to identify individuals with FH early to prevent these health complications due to high cholesterol levels. People with a family history of heart disease or high cholesterol levels should undergo a cholesterol screening.

Diagnosis of Inherited High Cholesterol

Diagnosing inherited high cholesterol involves a combination of clinical evaluation, genetic testing, and measuring blood lipid levels. Early detection of FH is crucial to prevent complications.

Clinical criteria for the diagnosis of FH include physical exam, family history, and measurement of lipid levels. Genetic testing can also confirm the diagnosis of FH.

Treatment for Inherited High Cholesterol

Treating inherited high cholesterol involves aggressive cholesterol-lowering therapy. The goal of treatment is to reduce LDL cholesterol levels to less than 100 mg/dL.

Depending on the severity of FH, lifestyle changes such as a healthy diet, regular exercise, and stopping smoking may not be sufficient to reduce cholesterol levels.

In most cases, cholesterol-lowering medications, such as statins, are prescribed to reduce cholesterol levels. Statins work by inhibiting the production of cholesterol in the liver, leading to decreased levels of LDL cholesterol in the bloodstream.

Other medications, such as bile acid sequestrants and ezetimibe, can also be used to reduce cholesterol levels in FH.

Prevention of Inherited High Cholesterol

Preventing inherited high cholesterol involves identifying and treating individuals with FH.

Maintaining a healthy lifestyle, such as a healthy diet, regular exercise, and not smoking, can reduce the risk of developing complications associated with high cholesterol levels. Regular lipid level screenings are also recommended for individuals with a family history of heart disease or high cholesterol levels.

Conclusion

Inherited high cholesterol, or familial hypercholesterolemia (FH), is a genetic disorder that causes high levels of LDL cholesterol.

FH can lead to the development of atherosclerotic plaques, which narrow and harden the arteries, leading to several health complications such as heart disease, stroke, and peripheral artery disease. Early detection and treatment of FH are essential to prevent these health complications. Maintaining a healthy lifestyle and regular lipid level screenings are also recommended for individuals at risk of developing FH.