What is FH (Familial Hypercholesterolaemia)?

People with FH are born with a genetic disorder that leads to elevated cholesterol levels. FH can be passed on by one or, in rare cases, both parents to their children, which causes an extremely severe form of FH.

• The Problem: 1 in 250 Australians have FH, but 90% don’t know it.

• The Stakes: Without treatment, life expectancy is shortened by 20–30 years.

• The Solution: Early diagnosis allows for a normal life expectancy.

If untreated, the cholesterol burden builds throughout life and up to half of all people living with FH may experience a coronary event (heart attack or stroke) by the age of 50 for men or 60 for women. Early diagnosis and treatment reduces CHD risk and can return affected patients to a normal life expectancy, removing the shortened life expectancy of 20 years for men and 30 years for women.

How does FH impact high cholesterol?

Cholesterol is important to the body, but too much causes damage. Usually, the cholesterol your body doesn’t need is removed from the blood by “doors”, receptors in the liver. In people with FH, however, these “doors” don’t open, and the extra cholesterol isn’t removed from the circulation. Over time the extra cholesterol builds up in the bloodstream and sticks to the inside of arteries in the heart, plaque in the coronary arteries build up and reduces blood flow.

Untreated this leads to heart disease.

Why does high cholesterol matter in families?

There are two common reasons people have high cholesterol. The first is an unhealthy diet, lifestyle or combination of both.  This has led to high cholesterol levels which can cause heart disease.

The second is an inherited condition which can often lead to extremely high levels of dangerous bad cholesterol (LDL-cholesterol). This second type of high cholesterol is FH, or family-inherited high cholesterol. The gold standard for diagnosing FH is via genetic testing.

Testing family members, relatives including children, for FH is recommended as it allows early detection and management of the condition. Children of a parent with FH have a 50% chance of inheriting the disorder. If the condition is detected early in children, an age-appropriate plan can be developed to reduce the likelihood of future heart disease. Testing of adult family members ensures they benefit from a management plan for FH if they have the condition.

Only 10% of people with FH have had the condition identified and treated, and most are adults. That means 90% do not know they have FH. In these people, the condition is not managed, or treatment is below the level of what is needed.

What are the impacts of genetic high cholesterol?

People with untreated FH have a life expectancy of about 20 years less than the general population.

The good news is there are several effective treatments for people with FH which significantly lower bad cholesterol; and novel therapies continue to be researched. People diagnosed with FH can have a normal life expectancy and avoid the risk of early cardiovascular disease if treated early.

Should all relatives be tested?

First-degree relatives of someone with FH have a 50% chance of having the condition. It is recommended all first-degree relatives be tested as early in their life as possible. A first-degree relative is a person’s sibling, child or parent.

How do family members get tested?

If one family member is found to have the genetic condition through testing, it is strongly recommended all first-degree relatives also be tested. This is called cascade testing. Testing for other family members can be done through a GP – but they will need specific information about the family variant. Without this information, GPs cannot order the test.

This test is covered under the Medical Benefits Schedule (MBS).

Should we test our children for FH?

A child of a parent with FH has a 50% chance of having FH. The condition affects boys and girls equally, as well as people from all ancestries. Genetic testing from a small blood sample or a buccal swab can determine if a child has the condition.

Current international guidelines recommend genetic testing for FH from 5 to 10 years of age. Parents choose to genetically test their children to determine if they have the condition. This allows them to start management plans if they do.

What is the treatment for children?

Children with FH can have elevated LDL-cholesterol from a young age. Early detection allows the child to be regularly monitored and have plans suited to their stage of life. A management plan may involve a low-fat diet or cholesterol-lowering medications, which can be given from 8 to 10 years of age. Children can be referred to a specialist paediatrician to develop a management plan.

Is genetic testing covered by the MBS?

Yes, genetic testing for FH is covered by the MBS under Item 73352 if it is requested by a specialist or consultant physician, and if the following criteria are met for the patient:

• Dutch Lipid Clinic Network score of at least 6; or
• an LDL-cholesterol level of at least 6.5 mmol/L in the absence of secondary causes; or
• an LDL-cholesterol level of between 5.0 and 6.5 mmol/L with signs of premature or accelerated atherogenesis

Genetic cascade testing for first- or second-degree family members can be done through a GP and is covered by MBS under Item 73353.

The FH Australasia Network Integrated Guidance for FH can be accessed here. Read more about the importance of cascade testing through families in the Articles of Interest on the Resources section of our website.