British Liver Trust launches campaign to tackle late diagnosis of rare liver conditions

The British Liver Trust has launched a new campaign ahead of Rare Disease Day to tackle the late diagnosis of rare liver conditions, after new analysis of patient survey data revealed that many people experienced symptoms before diagnosis. 

Yet around a quarter of symptomatic patients had their concerns dismissed or were sent home without further investigation.

Liver disease is often associated with alcohol or lifestyle factors. But many rare liver conditions are autoimmune or genetic, affecting people of all ages, including babies, children and young adults. 

This misconception can contribute to delays in diagnosis and prevent people from seeking timely support.

Analysis of responses from more than 1,000 people living with rare liver conditions across the UK found that around one in five patients who experienced symptoms were diagnosed “very late”, when their disease had already progressed and treatment options were limited.

In response, the British Liver Trust has launched No One Left Behind, a new campaign aimed at shining a spotlight on rarer liver conditions that are too often under-recognised and misunderstood.

The campaign calls for greater awareness of early warning signs among healthcare professionals and the public, improved information and support at diagnosis, and greater investment in research.

Persistent itching, nausea, abdominal pain and jaundice were among the most commonly reported early warning signs across rarer liver conditions, including Primary Biliary Cholangitis (PBC), Autoimmune Hepatitis (AIH) and Primary Sclerosing Cholangitis (PSC). These are chronic, progressive diseases that often require lifelong specialist care. In some cases, delayed diagnosis can lead to cirrhosis, liver failure or the need for transplantation.

According to the British Liver Trust, tens of thousands of people in the UK are living with rare liver diseases, many of which can take years to diagnose due to a lack of awareness and limited research.

Emma was diagnosed with autoimmune hepatitis more than two decades ago, aged just 17, after developing severe itching and jaundice and spending weeks in hospital undergoing tests. At the time, she had never heard of the condition and did not recognise that her symptoms were signs of serious liver disease.

Emma told That's Health: “So many people don’t realise liver disease doesn’t just affect people who drink alcohol. Conditions like mine are called ‘rare’, but they affect thousands of people.”

Rare Disease Day is marked globally each year on 28 February and aims to raise awareness of rare diseases and improve access to diagnosis, treatment and care for those affected.

Pamela Healy OBE, Chief Executive of the British Liver Trust, added: “Rare liver diseases may be less common, but for the thousands of people affected across the UK, their impact is life-changing. Too often, a lack of awareness leads to delayed diagnosis and unequal access to specialist care. 

"We need greater understanding, earlier diagnosis and sustained investment in research to ensure no one living with a rare liver condition is left behind.”

The British Liver Trust is the UK’s leading liver health charity and provides information, support and advocacy for everyone affected by liver disease. This includes people living with rare liver conditions such as autoimmune hepatitis, primary biliary cholangitis (PBC), primary sclerosing cholangitis (PSC), Alagille syndrome and biliary atresia.

For more information, visit www.britishlivertrust.org.uk.

Rare Disease Day: Why Awareness Matters More Than Ever

Every year on 28 February (or 29 February in leap years), the world marks Rare Disease Day, a global campaign dedicated to raising awareness of conditions that individually affect small numbers of people, but collectively impact millions worldwide.

In the UK alone, it's estimated around 3.5 million people live with a rare disease. Globally, that figure rises to overmore than 300 million. 

Despite the numbers, many patients still face delayed diagnosis, limited treatment options and ongoing misunderstanding.

For That’s Health, this day is about shining a light on stories that are too often overlooked.

What Is a Rare Disease?

A disease is considered rare in the UK if it affects fewer than 1 in 2,000 people. However, there are more than 7,000 known rare conditions. 

Around 72% are genetic, and many begin in childhood, though others emerge later in life.

Examples include:

Huntington's disease

https://www.hda.org.uk/information-and-support/huntingtons-disease/what-is-huntingtons-disease

Cystic fibrosis

https://www.cysticfibrosis.org.uk

Ehlers-Danlos syndrome

https://www.ehlers-danlos.com/what-is-eds

Duchenne muscular dystrophy

https://www.duchenneuk.org/what-is-duchenne

Some are life-limiting. Others are chronic and complex, affecting multiple body systems and requiring specialist care.

The Challenge of Diagnosis

One of the biggest hurdles facing people with rare diseases is simply getting a diagnosis.

It can take years, sometimes decades, for patients to receive clarity. Symptoms may be misattributed, dismissed, or misunderstood. Families often describe a long and exhausting search for answers, moving from specialist to specialist.

Earlier diagnosis matters. It can:

Improve treatment outcomes

Allow families to plan and access support

Connect patients with specialist communities

Reduce mental health strain caused by uncertainty

Living With a Rare Condition

Rare diseases do not just affect physical health. They impact education, employment, finances and relationships.

People may feel isolated, especially if there are very few others locally with the same condition. Support groups, online communities and charities play a vital role in providing connection and practical advice.

In the UK, organisations such as Genetic Alliance UK and Rare Disease UK campaign for improved services, research funding and better policy support.

https://geneticalliance.org.uk

https://rd-research.org.uk

Why Awareness Still Matters

Awareness days are sometimes criticised as symbolic gestures. But for rare disease patients, visibility can lead to real change.

Awareness can:

Encourage earlier referrals and recognition by healthcare professionals

Support funding for research and innovative therapies

Influence government health strategies

Reduce stigma and misunderstanding

The UK has developed rare disease frameworks to improve coordination of care, but continued momentum is essential.

Research and Hope

Scientific advances, particularly in genetics and personalised medicine, are transforming the landscape of rare disease treatment. Gene therapies, targeted biologics and improved diagnostic tools are offering new hope.

However, research into rare diseases often receives less funding due to smaller patient populations. Advocacy remains crucial to ensure progress continues.

How You Can Support Rare Disease Day

You do not need to be directly affected to make a difference. You can:

Share information on social media

Support rare disease charities

Learn about conditions affecting people in your community

Encourage compassionate conversations

Even a small action can reduce isolation for someone living with a rare diagnosis.

Rare diseases may be individually uncommon, but collectively they represent a significant public health issue. Behind every statistic is a person navigating uncertainty, resilience and strength.

Rare Disease Day reminds us that awareness is not just about facts and figures, it is about empathy, research, and ensuring that no one feels invisible.

For more health awareness features and UK-focused wellbeing content, keep following That’s Health.