Key points
- Cholesterol is a type of fat that helps the body complete many key processes, such as building cells and making hormones.
- Familial hypercholesterolaemia (FH) is a genetic condition that causes high levels of low-density lipoprotein (LDL) cholesterol in the blood. This is the 'bad' type of cholesterol.
- Children with FH are born with the condition. They inherit it from one or both parents.
- If left untreated, FH increases the risk of early heart disease.
- With early diagnosis and treatment, your child can live a long and healthy life with FH.
What is cholesterol?
Cholesterol is a type of fat. It plays a key role in bodily processes such as building healthy cells and making hormones. The liver and some cells produce most of the body’s cholesterol; it is also in some foods.
Proteins called lipoproteins carry cholesterol around the body through the bloodstream. The two main types are low-density lipoprotein (LDL) and high-density lipoprotein (HDL).
- LDL cholesterol is commonly known as ‘bad’ cholesterol because it can build up and cause heart problems.
- HDL cholesterol is commonly known as ‘good’ cholesterol because it helps remove extra LDL cholesterol.
What is familial hypercholesterolaemia?
Familial hypercholesterolaemia (FH) is a genetic condition that causes high levels of LDL cholesterol in the blood.
Without treatment, high levels of LDL cholesterol can cause the blood vessels to get narrower. This may lead to heart attacks or other heart diseases in early adulthood.
What causes familial hypercholesterolaemia?
In most cases, FH is caused by a change in a gene that controls how the body removes cholesterol. This change means the body cannot get rid of LDL cholesterol properly, so it builds up in the blood.
Children inherit FH from one or both parents, just like their eye or hair colour. Sometimes, a child with FH also has other family members with the same condition.
It is important to remember that children with FH do not have high cholesterol because of a poor diet or lack of exercise. However, these things can still help to manage cholesterol levels.
Signs and symptoms of familial hypercholesterolaemia
Children with FH will not usually have any symptoms. The first sign may be a blood test showing high cholesterol. Rarely, people with very high cholesterol levels can develop visible fatty lumps under the skin or around the eyes.
If a doctor suspects your child has FH, they may ask about your family history of high cholesterol or early heart disease (before age 60). This is because the condition often runs in families.
Testing for familial hypercholesterolaemia
Australian guidelines recommend testing children for FH from around four years if they have a family history, or earlier if they are at risk of a more serious form of the condition. An early FH diagnosis means early treatment, which helps to prevent future heart problems.
A doctor will usually suggest testing for FH if your child has a family history of high cholesterol or heart disease. This usually involves a blood test and genetic testing. They may also suggest genetic testing for parents, siblings and other family members.
Treatment for familial hypercholesterolaemia
Children with FH can live long and active lives with the right treatment.
If your child has FH, they should:
Even with an active lifestyle and a nutritious diet, most children with FH will also need medicine. Doctors usually suggest starting medicine for FH between eight and 10 years old.
The most common medicine for FH is a statin, which helps to lower LDL cholesterol levels. Statins are safe and effective in children. Your child will have regular check-ups and blood tests to monitor their response to treatment and check for rare side effects. People with extremely high LDL cholesterol may need other treatments.
Most states in Australia run lipid clinics. These are places where people with conditions like high cholesterol can get specialised treatment and support.
Common questions about familial hypercholesterolaemia
What are the risk factors for familial hypercholesterolaemia?
The main risk factor for FH is having a parent with FH or a family history of early heart disease. If one parent has FH, there is a 1 in 2 (50%) chance that each child will also have the condition.
Can familial hypercholesterolaemia be cured?
There is no cure for FH, but people with the condition can expect to live normal, healthy lives with proper treatment, like medicine.
I have familial hypercholesterolaemia. Should I get my children tested?
FH is an underdiagnosed condition; this is because many people do not have symptoms. However, the earlier people start treatment, the better their outcomes will be. If you have the condition, you should get your children tested, too.
My child has been diagnosed with familial hypercholesterolaemia. Will my child need to follow a specific diet?
All children benefit from eating a heart-healthy diet, but it is essential for children with FH. A diet low in saturated and trans-fats, with plenty of plant-based foods, can support healthy cholesterol levels. Eating foods high in saturated fats can increase LDL cholesterol levels.
Does familial hypercholesterolaemia get worse with age?
As FH is a genetic condition, the underlying cause does not change or ‘get worse’ with age. Cholesterol levels tend to stay high, but do not usually climb simply because a child gets older.
What can change over time is the effect of having high cholesterol. If FH is not treated early, cholesterol can build up in the arteries and increase the risk of heart disease later in life. Starting treatment and heart-healthy habits early helps prevent this build-up and protects long-term health.
For more information
Developed by The Royal Children’s Hospital (RCH) Metabolic Medicine department. We acknowledge the input of RCH consumers and carers.
Reviewed January 2026
Please always seek the most recent advice from a registered and practising clinician.