Adult PFIC: Why Some People Spend Years Searching for Answers 

• A hidden diagnosis: Although PFIC is widely considered a childhood condition, some people do not experience recognizable symptoms until adulthood, leaving many undiagnosed or misdiagnosed for years 

• The cost of missed recognition: While adults search for answers, liver damage may continue silently progressing, alongside the physical and emotional impact of symptoms such as itching, fatigue and uncertainty 

• No one should navigate PFIC alone: Through initiatives like PFIC Colors, developed with the PFIC Network, we are helping people better understand PFIC, connect with trusted support and feel empowered to seek answers and specialist care 

What is adult PFIC? 

PFIC is a group of rare inherited liver conditions that affects the body’s ability to transport and circulate bile, which is essential for digesting and absorbing fats, as well as removing waste products.^1–5 When bile builds up in the liver , it can damage the liver and cause symptoms such as itching.¹ 

While PFIC is often associated with childhood, it is increasingly recognized that it can also manifest in adults.^3,6 In these cases, symptoms may not appear until later in life, sometimes triggered by events such as pregnancy or an infection.^2,6 

For many, this means years of unexplained symptoms, repeated medical appointments and uncertainty before the underlying cause is identified.⁶ 

What is the impact of PFIC? 

For adults living with PFIC, the condition can affect nearly every aspect of life, from physical health and emotional wellbeing to work, relationships and future plans.⁶ 

Common symptoms include itching (pruritus), yellowing of the skin and eyes (jaundice), abdominal pain, diarrhea and fatigue, which can disrupt everyday activities and quality of life.^7,8 

For many, the most challenging symptom is the relentless, debilitating itching. Because itching has no visible signs, its severity is often underestimated, making it difficult for others to understand the exhausting and all-consuming burden, which can extend far beyond physical symptoms.^1,6,9,10 

Severe itching can affect concentration, work, education, family life, relationships and mental wellbeing. Sleep disruption caused by persistent itching can leave people exhausted during the day, while the unpredictability of symptoms and their underlying cause may also create anxiety about the future.^1,10–13   

Many people describe feeling isolated, particularly because PFIC is rare and poorly understood by others.⁶ 

Moreover, PFIC is a progressive condition, which means it can evolve over time. One of the challenges of the disease is that underlying changes in the liver may continue even when symptoms fluctuate or seem manageable. As a result, individuals may feel relatively well while the disease remains active beneath the surface.⁶ 

Without appropriate care, bile continues to build up in the liver, which can cause long-term damage and may eventually lead to liver failure.^1,6,14 

Why is a diagnosis of adult PFIC so challenging?  

Adult PFIC is often misdiagnosed or diagnosed much later than it should be. This is primarily driven by limited awareness and understanding in adults.^6,13 The long-held perception of PFIC as a childhood condition can mean healthcare professionals (HCPs) may not immediately suspect it in adults.^6,14 

Contributing to this challenge is that the condition rarely presents in a straightforward or predictable way. Some adults may have mild or no obvious symptoms at all.^6,15 For those who do experience symptoms, they often overlap with those of other, more common conditions.⁶ In some cases, symptoms come and go over time,⁶ making it difficult to identify the underlying cause.  

As a result, PFIC is often overlooked, dismissed or attributed to other causes,^6,13 which can leave people feeling frustrated and unsupported. Indeed, many adults with PFIC spend years, or even decades, searching for answers, often only managing symptoms without optimal care – all the while, liver damage may continue to progress.⁶ 

How can we bridge the diagnostic gap in PFIC? 

Earlier recognition is essential to changing the disease trajectory and improving long-term outcomes for adults with PFIC.^16,17 The first step is increasing awareness of adult PFIC, so that symptoms are recognized in this context sooner and appropriate testing can take place.⁶ 

When PFIC is suspected, genetic testing is often used to confirm the diagnosis.^16,17 Because the condition is caused by changes in certain genes, genetic testing can identify the underlying cause. However, genetic variants are not always found.^18,19 In some cases, a diagnosis is ultimately made through a comprehensive clinical assessment and the exclusion of all other possible causes.^18,19 

A confirmed diagnosis can be an important turning point 

For some people, finally receiving a diagnosis provides a long-awaited validation that their symptoms have a genuine underlying cause. It can also open the door to specialized care and access to a supportive community.¹⁷ 

When should PFIC be considered? 

Could PFIC be the missing explanation? Adults with the following symptoms or experiences may benefit from discussion with a liver specialist:^3,6,17,19 

• Persistent or recurrent unexplained itching 

• Cholestasis or unexplained abnormalities in liver tests 

• Episodes of jaundice 

• Family history of liver disease 

• Symptoms that have remained unexplained despite previous investigations 

• Ongoing liver problems with no clear cause 

• History of severe or recurrent intrahepatic cholestasis of pregnancy (ICP) 

Please note: This information is intended for educational purposes only and is not a substitute for medical advice, diagnosis, or treatment. Please speak with your doctor or healthcare team if you have questions or concerns about your health or the possibility of PFIC.