Autoimmune diseases are a group of conditions in which the immune system attacks organ systems within the body. Examples of autoimmune diseases are rheumatoid arthritis and inflammatory bowel disease. The immune system typically identifies and removes bacteria and viruses from the body. In autoimmune diseases, the immune system produces specific proteins, called autoantibodies which target a particular organ and cause the autoimmune disease. It is not known exactly what causes the immune system to act in this way. It is thought that there may be a number of causes which include:
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A problem with the immune system
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An individual’s genes
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Environmental factors
*This website provides general information but does not replace medical advice. It is important to contact your/your child’s medical team if you have any worries or concerns
What are the symptoms of autoimmune liver disease?
Autoimmune liver disease in children can be classified as:
Autoimmune hepatitis (AIH) and AIH/sclerosing cholangitis overlap syndrome known as autoimmune sclerosing cholangitis (ASC). These are autoimmune liver diseases. They are similar conditions and are treated similarly.
What is autoimmune hepatitis? Hepatitis means inflammation of the liver. In AIH, the liver cells or hepatocytes are the main target and therefore is called hepatitis, which means inflammation of the liver cells. This is different from hepatitis caused by viruses such as hepatitis A, B and C.
What is autoimmune sclerosing cholangitis? ASC is similar to AIH but as well as hepatitis there is also inflammation in the bile ducts which are responsible for draining bile out of the liver. ASC is often associated with inflammatory bowel disease.
It can be difficult for childhood autoimmune liver disease to be diagnosed because the symptoms are similar to many other liver disorders and they can vary greatly. Some children and young people with autoimmune liver disease may appear well and active whilst others can be very ill and have signs of liver failure.
The most common symptoms are:
- Tiredness and generally feeling unwell
- Loss of appetite
Other symptoms are:
- Nausea (feeling sick) or being sick
- Abdominal pain
- Jaundice with dark urine and pale stools (poo)
- Joint and muscle pain
- Weight loss
- Itching
- Fever
- Nose bleeds, bleeding gums and bruising easily
- Amenorrhoea (delayed starting of periods or they stop once started)
- Diarrhoea (bowel symptoms are more common in autoimmune sclerosing cholangitis)
Later symptoms which can appear as the condition progresses include:
- A swollen abdomen (ascites)
- Swelling, especially in the lower legs (oedema)
- Irritability and confusion
How is autoimmune liver disease diagnosed?
If a child or young person is displaying the symptoms of autoimmune liver disease there are a number of tests which are used to confirm a diagnosis:
- Blood tests
- Liver biopsy
- Ultrasound scan
- MRI-MRCP scan
- Upper and lower gastrointestinal endoscopy if there are bowel symptoms
Find more information on liver tests and investigations. Children with autoimmune liver disease usually have high immunoglobulin G levels (a type of antibody). They also usually have positive autoantibodies.
What are the different types of autoimmune liver disease?
There are two types of autoimmune liver disease. Each type has different types of autoantibody present:
Type 1 = Anti-nuclear (ANA) and/or anti-smooth muscle (SMA) antibodies. Type 1 makes up two out of three of all cases of AIH and the majority of ASC cases.
Type 2 = Liver kidney microsomal (LKM) antibodies. Type 2 is less common, more likely to affect younger children and can present with acute liver failure. Type 2 is rare in ASC.
How is autoimmune liver disease treated?
Prednisolone
Prednisolone is a steroid and is normally the first treatment which is used. Sometimes it is simply called “pred”.
High doses of steroids are required when treatment starts. The dose will gradually be reduced depending on blood results and symptoms. The overall aim of treatment is to ensure the disease is treated using as little medicine as possible.
Side effects of steroids include:
- Being more likely to pick up an infection
- Increased appetite and weight gain
- Acne
- A risk of bone weakness
- Behavioural changes
- Slower growth
- Diabetes in some individuals
Azathioprine
Azathioprine is another medicine which can be given to help the steroid to work or when someone develops significant side effects from the steroids. Like prednisolone, it is a medication that reduces the response of the immune system.
Other medicines are available if prednisolone and azathioprine don’t successfully treat the disease. These options will be discussed with you by your medical team if they are necessary.
Other medications
Another medicine called ursodeoxycholic acid (known as urso) is also usually given to children with ASC. The aim of this is to improve bile flow through the bile ducts. If colitis (an inflammation of the large intestine) is present, different medicines may be prescribed; this includes a drug called mesalazine. Your healthcare team will talk to you about these if they are needed.
It’s important to note that most children and young people respond well to treatment.
For young people the side effects of treatment can be distressing especially cosmetic changes such as weight gain. CLDF’s young people’s team is here to support young people aged 11-24. The psychology teams at the liver centres can also provide help and support. Get in touch to find out about the support available.
How long does treatment continue for?
This can depend on a variety of things but treatment usually has to be continued for a long time, normally years.
Considering stopping treatment can only be done if there have been at least two years of completely normal blood tests and often only if a repeat liver biopsy shows that the inflammation in the liver has disappeared. If treatment is decreased, it is done very slowly. Remission is the aim of treatment.
Relapse
A relapse is where the disease becomes active again after remission. Relapses can occur suddenly, particularly during puberty. This may be picked up on blood tests or may be noticeable due to symptoms reappearing. Relapse can also happen when medicines have not been taken as prescribed.
It is really important that young people understand the importance of taking their medication properly, even if they feel ok.
During a relapse medicine dosages may need to be increased to bring the disease back under control. Considering stopping treatment can only be done if there have been at least two years of completely normal blood tests and often only if a repeat liver biopsy shows that the inflammation in the liver has disappeared. If treatment is decreased, it is done very slowly. About 20% of children/young people with type 1 autoimmune hepatitis who respond well to medication can eventually stop treatment. Very few children/young people with type 2 autoimmune hepatitis can ever stop treatment.
How is autoimmune liver disease monitored?
Those with autoimmune hepatitis or autoimmune sclerosing cholangitis require regular blood tests. Monitoring the condition is really important. Regular blood tests are taken to measure AST (aspartate aminotransferase) and ALT (alanine aminotransferase). These are enzymes which are normally present in the liver and their levels can be used to monitor the health of the liver. When first diagnosed, testing may be done weekly to see how quickly the level of steroids can be reduced. As the condition stabilises, blood tests will be needed less often (every 3-6 months).
What happens if the disease progresses?
Complications of chronic liver disease include:
- Weight loss/poor weight gain
- Ascites (swelling of the tummy)
- Portal hypertension (high blood pressure in the blood vessels around the liver)
- Jaundice
In the case of chronic liver disease and portal hypertension medicines such as aspirin and ibuprofen should be avoided as they can make bleeding in the gut more likely. Paracetamol (Calpol) is a safer alternative.
If the function of the liver is affected by the disease then other medicines may be given. For example vitamin K may be given which helps the blood to clot. Liver transplantation is considered in cases that don’t respond to medicine or when the liver is damaged beyond repair and the complications are life threatening. Rate of liver transplantation is higher in cases of autoimmune sclerosing cholangitis and recurrence of autoimmune liver disease may occur following liver transplantation, especially in cases with autoimmune sclerosing cholangitis. Most children can lead a good quality of life whilst taking medication.
Find out more about liver transplantation.
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If you have any questions about this resource, or if you would like information on the evidence used to produce it, please email: info@childliverdisease.org
