Liver conditions are a group of disorders that affect the liver. The liver is the largest internal organ of the body and is located on the upper right part of the abdomen.¹ The liver carries out many important functions such as:¹

• produce bile for food digestion
• remove toxin and waste products from the blood
• produce essential proteins such as albumin and blood clotting factors

Damage to the liver can prevent the liver from carrying out these essential functions and lead to disease. Some liver conditions are common among the population, but there are also rare liver conditions. The different types of rare liver conditions include: ^1-3

• Acute liver failure
• Alagille syndrome
• Alpha-1 antitrypsin deficiency (A1AD)
• Autoimmune hepatitis
• Biliary atresia
• Budd-Chiari syndrome
• Cholangiocarcinoma
• Hepatocellular carcinoma
• Hereditary hemochromatosis
• Liver angiosarcoma
• Primary biliary cholangitis (PBC)
• Primary sclerosing cholangitis (PSC)
• Progressive familial intrahepatic cholestasis (PFIC)
• Portal vein thrombosis (PVT)
• Wilson’s disease

This list may not cover all the rare liver conditions. Individual pages for rare liver conditions will be added to the RARE Portal in time. More information on various types of liver conditions can be found at Liver Foundation: Liver diseases.

Synonyms: liver diseases, hepatic diseases.

Universal rare disease classifications provide a common language for recording, reporting and monitoring diseases. Please visit the Rare Disease Classifications page for more information about these internationally recognised classifications.

ORPHA 57146: Rare hepatic disease (Group of Disorders)

ICD-11: Disease of liver

There are a wide range of signs and symptoms for the different types of rare liver conditions, and there may be varying severity. Whilst it may not be the case for all liver conditions, some of the signs and symptoms include:^2,4

• jaundice (the skin or whites of the eye turn yellow)
• abdominal pain
• chronic fatigue
• nausea
• dark yellow urine
• pale or clay coloured stools
• fever
• joint pain
• unexplained weight and muscle loss
• failure to thrive in child
• cholestasis (impairment of bile flow)
• hepatomegaly (enlarged liver)
• itchy skin

Liver conditions may also lead to complications such as osteoarthritis, diabetes; and damage to other organs such as the lung, pancreas, gastrointestinal, heart and brain.^1,4

Please speak to your medical team to learn more about the symptoms and complications for a specific type of rare liver condition.

Rare diseases are often serious and progressive, exhibiting a high degree of symptom complexity, leading to significant disability. Majority of the estimated two million Australians living with a rare disease meet the Australian Government’s definition for disability (in accordance to the Australian Public Service Commission and Australian Bureau of Statistics), and many experience severe and permanent disability impacts. If you or someone you care for is experiencing disability-related impacts from a rare condition, please speak with a health or disability professional for advice. Information about relevant disability support can be found at the RARE Portal’s Disability Support Information page.

Causes of rare liver conditions include autoimmune, genetic, metabolic, inflammatory, cancer, infection, vascular (related to blood circulatory system), and others.^1,5 There may also be conditions that affect liver cells or bile ducts that can lead to liver damage and disease.

Diagnosis of rare liver conditions may be made based on physical examination, medical history, family history, blood tests including immunologic tests, scans including ultrasound and computed tomography (CT) and biopsies.^1,6

Please speak to your medical team to learn more about the available diagnostic pathway for a particular rare liver condition.

Treatment will depend on the type and the cause of the rare liver condition. It may involve diuretics to remove excess fluid, medications to manage symptoms of the condition, surgery, radiotherapy, chemotherapy, liver transplant and others.^1,7

Some lifestyle factors may help to prevent or limit the progression of certain liver conditions such as avoiding alcohol and smoking, a modified diet and being physically active.^2,3

Please speak to your medical team to learn more about the possible treatment or management options for your condition. Treatment will depend on an individual’s specific condition and symptoms. It is also important to stay connected to your medical team so that you can be made aware of any upcoming clinical trial opportunities.

Clinical care for rare diseases often involves a multidisciplinary team of medical, care and support professionals. Please note that the information provided here is as a guide and that RVA does not necessarily monitor or endorse specific clinics or health experts.

Healthcare professionals involved in the treatment of rare liver conditions may include general practitioners (GP), paediatricians, hepatologists, gastroenterologist, liver nurses, dietitians and social workers. The need for different healthcare professionals may change over a person’s lifetime and extend beyond those listed here.

Liver Foundation: Health professionals you might see contains additional information about different types of health professionals involved in the treatment of liver conditions.

Australasian Hepatology Association: Consensus-based Nursing Guidelines (2019) includes guidelines for the care of individuals with hepatitis B, hepatitis C, advanced liver disease and hepatocellular carcinoma; developed by the peak professional body representing Australasian hepatology nurses and allied health professionals.

The following guidance is available from international experts outside Australia; however, there may be information that is not relevant or applicable to the Australian context, and may not be up to date:

• European Reference Networks Rare Liver: Clinical Practice Guidelines and Position Papers developed by European medical experts for various rare liver conditions.

Individuals living with rare diseases may have complex medical issues and disabilities, which are not always visible. It is often useful to refer to their medical history as well as personal information such as a medical card, doctor’s letter, or if available, a rare disease passport, for relevant information.

It may be important to consider the following when managing individuals living with rare liver diseases at emergency departments/services:

• individuals may present with hepatic encephalopathy, which symptoms may be confused with other conditions, particularly if the liver disease is not known or disclosed
• Individuals may present with variceal bleed, which is a medical emergency

There are specific considerations around participating in rare disease research, including clinical trials. It is important to be mindful of issues such as data privacy, research ethics, consent and differences in research regulations between Australia and other countries.

If you are interested in finding clinical trials for your condition, please visit the following websites; however, there may not be any clinical trials available:

• Australian Clinical Trials
• ClinicalTrials.gov

It is best to discuss your interest in any clinical trials with your medical team to determine suitability and eligibility.

Please note that RVA does not necessarily monitor or endorse each group/organisation’s operational governance and activities.

Australian Organisation:

Liver Foundation
Website: https://liver.org.au/

Liver Foundation is Australia’s peak national body focused on improving outcomes for all people living with liver disease.

Please note that RVA does not monitor or endorse each group/organisation’s operational governance and activities. When engaging with a group, please consider the information on the RARE Portal’s Finding Helpful Peer and Community Supports page.

Liver conditions vary between individuals, and each person’s experience is unique.

Please visit Liver Foundation: Our stories to read the personal stories of people living with liver diseases.

If you would like to share your personal story with RVA, please visit the Rare Voices Australia: Share Your Story page. RVA will consider your story for publishing on our website and inclusion on the RARE Portal.

Liver Foundation Nurse-Led Support Line is a free nurse telehealth service for people living with primary liver cancer and their loved ones, carers and health professionals. The service is also for people  with liver disease that are at risk of developing liver cancer.

Liver Foundation: Living Well has information about support for individuals with liver conditions, and their families and carers.

For information on available government and social services that provide support for individuals with a rare disease, please visit the National and State Services pages.

People living with a rare disease, including families and carers, often face unique challenges such as diagnostic delays, misdiagnoses, limited treatment options, and limited access to rare disease specialists and support. These challenges may impact people’s emotional wellbeing and quality of life. Many people find it helpful to seek mental health and wellbeing support to cope with ongoing stress and uncertainty. Connecting with people who have shared experiences through a support group may also be helpful. Information about relevant mental health and wellbeing support can be found at:

• Mental Health and Wellbeing Support for Australians Living with a Rare Disease
• The National and State Services pages underneath the ‘Mental Health’ sections listed

Liver Foundation: Mental Health also has information on mental health for people living with a rare liver condition.

Further information on liver conditions can be found at:

• healthdirect: Liver conditions and diseaseshealthdirect: Liver conditions and diseases
• Australian Government Institute of Health and Welfare: Liver disease
• Victoria State Government Better Health Channel: Liver
• Gastroenterological Society of Australia (GESA): Patient Resources

Liver Foundation: Health Professionals

Liver Foundation: Nurse Information

Gastroenterological Society of Australia (GESA): Clinical Practice Resources

European Reference Network (ERN) Rare-Liver is a Europe-wide network for centres of excellence in the clinical management of rare liver disease in adults and in children.

This page has been co-developed by Rare Voices Australia (RVA)’s RARE Portal team in consultation with Liver Foundation.

If you are aware of any additional information that may benefit stakeholders with an interest in this page, or if you notice any broken links or inaccurate information, please let us know via the Contribute page.