Familial Hypercholesterolemia

What is familial hypercholesterolemia?

Familial hypercholesterolemia (FH) is a condition that affects the processing of cholesterol in the body, which leads to elevated levels of LDL ‘bad’ cholesterol in the blood and increases the risk of early onset heart disease.

Familial hypercholesterolemia is an inherited condition that is caused by a gene mutation, although symptoms may not appear until adulthood.

It is estimated that up to 1 in 250 Australians are affected by familial hypercholesterolemia.

What are the symptoms of familial hypercholesterolemia?

People may not be aware they have familial hypercholesterolemia and the resulting high LDL cholesterol levels as symptoms may not be present until heart disease develops.

Signs that can indicate familial hypercholesterolemia include:

• high blood cholesterol levels
• family history of familial hypercholesterolemia and/or heart attack at a young age
• treatment-resistant high LDL cholesterol in one or both parents
• chest pain
• heart attack at a young age
• cholesterol deposits in skin, eyes, and tendons

What causes familial hypercholesterolemia?

Familial hypercholesterolemia is a genetic condition that is passed down from either one or both parents.

Familial hypercholesterolemia impacts the body’s ability to effectively manage LDL cholesterol levels. This can cause cholesterol to build up in the arteries, leading to narrowing and increased risk of heart disease.

How is familial hypercholesterolemia diagnosed?

A diagnosis of familial hypercholesterolemia will likely involve a review of family history, along with a range of tests including:

• blood tests to check cholesterol and LDL levels (this should be a part of your regular health screenings with your GP)
• physical examination to check for cholesterol deposits in the skin
• genetic tests

If you are diagnosed with familial hypercholesterolemia, further heart tests may be conducted such as a stress test or angiogram to look for blockages in the heart’s arteries. First-degree relatives may also be advised to be checked for this condition.

How is familial hypercholesterolemia treated?

Treatment for familial hypercholesterolemia may include:

• cholesterol-lowering medications such as statins, or even more powerful agents like PCSK9 inhibitors e.g. evolocumab
• dietary changes including eating a plant-rich diet, reducing saturated fat intake, and increasing fibre intake
• consuming plant sterols – which can help lower cholesterol
• engaging in regular exercise
• quitting smoking
• limiting alcohol intake

How can familial hypercholesterolemia be prevented?

As familial hypercholesterolemia is caused by a genetic mutation, there is no way to prevent it. Early diagnosis and effective management of the condition may help to reduce the risk of heart disease.