What is Gilbert's syndrome?

Gilbert's syndrome is a mild disorder of the liver. It is an inherited condition, which means it is passed down to a child from their biological parent.

Gilbert's syndrome affects the breakdown of a substance called bilirubin in the blood. If bilirubin builds up in the blood, it can cause jaundice (yellowing of the skin and eyes). Jaundice caused by Gilbert's syndrome does not lead to major liver or other disease.

Around 1 in 10 people have Gilbert's syndrome. Males are more likely to be affected than females. It is more common in people with type 1 diabetes.

Gilbert's syndrome is also known as benign hyperbilirubinaemia, Meulengracht disease and familial non-haemolytic jaundice.

What are the symptoms of Gilbert's syndrome?

Most people with Gilbert's syndrome do not have any symptoms.

In some people, it causes yellowing of the eyes and skin (jaundice), due to higher levels of bilirubin in the blood.

It's normal for your bilirubin levels to vary over time. If you have Gilbert's syndrome, they may go up or down when you are:

• sick or have an infection
• fasting
• during menstruation (your period)

Newborns are sometimes born with jaundice. Babies with Gilbert's syndrome may have higher levels of bilirubin and take longer to recover from jaundice.

What causes Gilbert's syndrome?

Gilbert's syndrome occurs when one of the enzymes involved in the breakdown of bilirubin doesn't function correctly due to a genetic change (mutation). Enzymes are chemicals that naturally break down substances in your body.

Bilirubin is a substance created when old red blood cells are broken down. It travels through the bloodstream to the liver, where enzymes process it. If you have a problem breaking down bilirubin, it will stay in your blood and build up. This can cause your skin and the whites of your eyes to yellow.

When should I see my doctor?

Although Gilbert's syndrome is not usually severe, you should see your doctor if you or your child show any symptoms of jaundice.

Jaundice can happen for many different reasons. Your doctor will check your liver, and may refer you for tests to look for signs of liver disease.

How is Gilbert's syndrome diagnosed?

Your doctor can diagnose Gilbert's syndrome with blood tests to check your liver function. If your bilirubin level is higher than normal without any other liver function abnormalities, your doctor will likely diagnose you with Gilbert's syndrome.

Your doctor may ask you to fast before you have a blood test to check for Gilbert's syndrome.

If the first test results suggest Gilbert's syndrome, they may ask you to repeat the blood test to confirm the diagnosis.

Your doctor may refer you for an ultrasound or liver biopsy to check if for other problems with your liver that may explain your high bilirubin levels.

There are also genetic tests available to check for the mutation that causes Gilbert's syndrome, but as Gilbert's syndrome isn't dangerous, these tests are rarely needed.

Crigler-Najjar syndrome is a similar but much rarer genetic disorder that also affects the breakdown of bilirubin by the liver. It is usually diagnosed soon after birth. It is a more severe syndrome that may require a liver transplant before it results in brain damage or death. Genetic testing may be used if your doctors aren't sure if you have Crigler-Najjar syndrome or Gilbert's syndrome.

How is Gilbert's syndrome treated?

There is no need to treat Gilbert's syndrome, as most people with Gilbert's syndrome do not have any symptoms.

Jaundice caused by Gilbert's syndrome will usually resolve by itself without treatment.

You should seek medical attention if you have Gilbert's syndrome and:

• your jaundice doesn't resolve on its own
• the jaundice is severe
• you have changes to the colour of your stool (poo) or urine (wee)

Living with Gilbert's syndrome

There are no specific dietary or lifestyle changes to follow if you have Gilbert's syndrome. You can continue to follow general recommendations for a healthy lifestyle. You can drink alcohol and eat as normal.

You should tell your health providers that you have Gilbert's syndrome, so that they are aware of this difference in your blood test results. This can prevent unnecessary investigation of abnormal tests results.

You should also tell your doctor that you have Gilbert's syndrome, as they may need to change the doses of some medicines they prescribe.

Can Gilbert's syndrome be prevented?

Gilbert's syndrome is a genetic condition and cannot be prevented.

To avoid increased bilirubin levels and episodes of jaundice, you should:

• try to manage stress levels — you can try exercise or meditation
• eat a balanced diet
• let your doctor know that you have Gilbert's syndrome before starting a new medicine

What are the complications of Gilbert's syndrome?

If you have Gilbert's syndrome, some medicines may build up in your blood. This is because the enzyme affected by Gilbert's syndrome is also involved in processing some other chemicals, including:

• irinotecan (cancer drug)
• antiviral medicines (such as atazanavir and indinavir)
• paracetamol
• non-steroidal anti-inflammatory drugs (also known as NSAIDs)
• statins (prescription medicine used to lower cholesterol)

Make sure to tell your doctor that you have Gilbert's syndrome, so they can prescribe the right dose for you.

If you have increased bilirubin levels, you are more likely to get gallstones.

Resources and support

For more information and support, you can contact Genetic Alliance Australia.

The Liver Foundation has information on Gilbert's syndrome and how to keep your liver healthy.

The Royal Children's Hospital Melbourne has a fact sheet on Gilbert's syndrome in children.

You can also call the healthdirect helpline on 1800 022 222 (known as NURSE-ON-CALL in Victoria). A registered nurse is available to speak with 24 hours a day, 7 days a week.