While it’s most commonly found in women ages 35 to 55, primary biliary cholangitis (PBC) has also been reported in younger patients, including patients as young as 15, and in one case, a five-year-old girl. While there have only been a few documented cases of PBC in children, greater awareness of early-onset PBC may reveal further cases.
PBC, formerly known as primary biliary cirrhosis, is a rare autoimmune liver disease that is often difficult to detect, due to a lack of defining symptoms. It affects the small bile ducts within the liver, progressively breaking them down over time. Bile then builds up in the liver, affecting its function and leading to fibrosis, cirrhosis and eventually, liver failure.
There is no known cause, apart from genetic and environmental factors, and PBC cannot be cured. It is not the result of alcohol or drug use. Early diagnosis is crucial to effective disease management and quality of life.
Medical treatment consists of managing symptoms and slowing the progression of the disease. However, the only treatment for end-stage liver disease is a liver transplant.
Learn more about PBC testing and diagnosis
Diagnosing and treating PBC
Regardless of age, people with PBC are often asymptomatic. When they do experience symptoms, they often report fatigue, itchy skin, dry mouth and eyes, indigestion, abdominal pain and brain fog, all of which can also be symptoms of other diseases or illnesses. This means that people with PBC may live many years without being diagnosed. This may also help explain why people are often diagnosed later in life.
In its early stages, a diagnosis of PBC often becomes apparent only during routine liver blood tests or investigations for other unrelated medical conditions.
This was how the two known cases of PBC in teenage girls were diagnosed, as liver blood test showed increased levels of liver enzymes.
Once PBC is suspected, diagnosis is confirmed with PBC specific blood tests, liver function tests, X-rays, ultrasounds and a liver biopsy.
Even after diagnosis, many people with PBC lead normal lives, experiencing no symptoms and little effect on their daily lives. However, as the disease progresses and liver function deteriorates, quality of life can suffer.
Treatment includes maintaining a healthy diet and lifestyle, and medicines such as ursodeoxycholic acid (UDCA) and obeticholic acid (OCA) to manage symptoms.
Further study is required to better understand PBC in children and to raise awareness of its potential to occur.
