Primary biliary cholangitis (PBC) is a rare and chronic autoimmune liver disease that damages the small bile ducts in the liver. Also known as primary biliary cirrhosis, PBC is a progressive disease, which means it gets worse without treatment over time. Bile is a fluid produced by the liver that helps digest fats and eliminate toxins from the body. Although bile is a necessary part of the human digestive system, bile can build up in the liver when the bile ducts are damaged in patients with PBC. The accumulation of bile can cause inflammation and scarring (cirrhosis), which can eventually lead to liver damage and failure. Although PBC can affect people of all ages, it is most commonly diagnosed in people assigned female at birth (AFAB) over the age of 40.
Causes of primary biliary cholangitis
The exact cause of PBC is unknown. It is thought to be an autoimmune disease, which means the body's immune system mistakenly attacks healthy liver cells, causing damage. The triggering factor that causes the body's immune system to attack itself is unknown, but certain factors may play a role in increasing the risk of developing PBC. These include the presence of a family history of autoimmune diseases, genetics, smoking, exposure to environmental toxins, infections, and hormonal imbalances.1
Signs and symptoms of primary biliary cholangitis
Early stages of PBC may be asymptomatic, with the patient and healthcare workers not realising its presence unless it gets detected through routine blood tests. However, as the disease progresses, patients may experience general fatigue and itchy skin, these being the most common symptoms. Progression of PBC and the severity of symptoms are not related; this means a patient in the early stages of the disease might experience more symptoms than someone with increased liver scarring, or vice versa. Either way, the following symptoms can be expected with PBC:1
- Dry eyes and mouth
- Jaundice (yellowing of the skin and eyes)
- Abdominal pain and swelling
- Bone pain and fractures
- Dark urine
- Light-coloured stools
- Memory and concentration problems
Management and treatment for primary biliary cholangitis
Currently, there is no cure for PBC. However, early diagnosis and treatment can slow the progression of the disease and prevent further complications. Treatment may include medications that reduce inflammation and itching, improve bile flow, and suppress the immune system. Lifestyle changes, such as maintaining a healthy weight, avoiding alcohol, and quitting smoking, can also help manage the condition.2
Ursodeoxycholic acid (UDCA) is the primary medication used in the management of PBC. When it is started in the early phases of PBC, it significantly slows down the progression of the disease, and if the patient responds well to the medication, they may not even need a liver transplant in the future. Yet, patients have to use this medication for the rest of their lives, and it does not improve the two most prominent symptoms: itching and fatigue.2
Obeticholic acid (OCA) is also a medication that is used in the treatment of PBC. It may be used on its own or in conjunction with UDCA. OCA also doesn't cure PBC, but it manages the condition and improves blood test results. It, unfortunately, cannot be used by people with liver cirrhosis.
Cholestyramine may also be used in the treatment of PBC. While it is not directly a treatment for PBC, it helps with itching, which is the most predominant symptom.1
In severe cases, liver transplantation may be necessary to replace the damaged liver with a healthy one. However, this is usually only recommended if the liver has been severely damaged and all other treatment options have not proven effective.
Diagnosis of primary biliary cholangitis
Diagnosing PBC can be challenging as many of the symptoms are vague and can be attributed to other conditions. Blood tests that measure liver function and check for specific antibodies associated with PBC are usually the first step towards diagnosis. Antimitochondrial antibody (AMA) is a marker that is used in diagnosis as well as the two major liver function enzymes, alanine transaminase (ALT) and aspartate transaminase (AST). 4 An ultrasound or a magnetic resonance imaging (MRI) scan may also be used to look for signs of liver damage. In some cases, a liver biopsy may be necessary to confirm the diagnosis and assess the extent of liver damage.
Certain factors may increase the risk of developing PBC, including:
- Age: PBC is more commonly diagnosed in women over the age of 40.4
- Sex: PBC is more common in people AFAB than in people assigned male at birth (AMAB).4
- Smoking: studies have shown that smoking is also a risk factor for developing PBC.5
- Family history: people with a family history of autoimmune diseases may be at an increased risk of developing PBC.4
- Geography: PBC is more common in certain regions of the world, including North America and Northern Europe.6
- Hormonal imbalances: PBC is more common in people AFAB who suffer from hormonal imbalances, such as those associated with menopause.7
If left untreated, PBC can lead to complications such as:
- Cirrhosis: scarring of the liver tissue can lead to cirrhosis, which is a serious condition that can cause liver failure and other complications.4
- Portal hypertension: scarring of the liver can cause high blood pressure in the portal vein, which carries blood from the digestive organs to the liver. This can cause fluid buildup in the abdomen, swelling in the legs, and other complications.4
- Osteoporosis: PBC can lead to a loss of bone density, making bones weak and prone to fractures.7
- Hepatocellular carcinoma: PBC may increase the risk of developing liver cancer.
How can I prevent primary biliary cholangitis?
Unfortunately, there is no known way to prevent PBC. However, maintaining a healthy lifestyle, avoiding exposure to environmental toxins, reducing the amount of alcohol consumption, quitting smoking and having a well-balanced diet may help reduce the risk of PBC. These changes may also prevent other autoimmune diseases.4
How common is primary biliary cholangitis?
PBC is considered a rare disease, affecting an estimated 1 in 1,000 people AFAB over the age of 40. It is less common in people with AMAB compared to people with AFAB, with a ratio of 1 to 10.7
When should I see a doctor?
Diagnosis of PBC is done by a specialist. If you experience any symptoms of PBC, such as fatigue, itching, or abdominal pain, you should contact your general practitioner (GP). Additionally, even if you do not present with PBC symptoms, you may want to speak with your doctor about getting tested for PBC if you have a family history of autoimmune diseases.
Primary biliary cholangitis is a rare autoimmune liver disease that damages the small bile ducts in the liver, causing inflammation and scarring, which can eventually lead to liver damage and failure. The exact cause is unknown, but certain risk factors increase the chances of developing PBC, such as age, gender, smoking, family history, geography, and hormonal imbalances. Early stages of PBC may be asymptomatic, but common symptoms include fatigue, itching, dry eyes and mouth, jaundice, abdominal pain, bone pain, memory and concentration problems, and more. Diagnosis of PBC can be challenging and usually involves blood tests, ultrasound or MRI scans, and liver biopsy. While there is no cure for PBC, early diagnosis and treatment can slow the progression of the disease and prevent further complications. Treatment options include medications, such as ursodeoxycholic acid and obeticholic acid, lifestyle changes, and liver transplantation in severe cases.
- Achufusi TGO, Safadi AO, Mahabadi N. Ursodeoxycholic Acid. [Updated 2023 Feb 12]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2023 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK545303/
- Krupa K, Hapshy V, Nguyen H, et al. Obeticholic Acid. [Updated 2023 Jan 17]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2023 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK567735/
- Corpechot C, Gaouar F, Chrétien Y, Johanet C, Chazouillères O, Poupon R. Smoking as an independent risk factor of liver fibrosis in primary biliary cirrhosis. J Hepatol. 2012;56(1):218-224. doi:10.1016/j.jhep.2011.03.031 https://pubmed.ncbi.nlm.nih.gov/21703179/
- Wibawa IDN, Shalim CP. Geographical Disparity in Primary Biliary Cholangitis Prevalence: A Mini-review. Gene Expr. 2022;21(2):41-44. doi: 10.14218/GE.2022.00005. https://www.xiahepublishing.com/1555-3884/GE-2022-00005
- Jorge Delgado MD et.al. The Epidemiology of Primary Biliary Cirrhosis in Southern Israel https://www.ima.org.il/filesupload/imaj/0/51/25540.pdf
- Marchioni Beery RM, Vaziri H, Forouhar F. Primary Biliary Cirrhosis and Primary Sclerosing Cholangitis: a Review Featuring a Women's Health Perspective. J Clin Transl Hepatol. 2014 Dec;2(4):266-84. doi: 10.14218/JCTH.2014.00024. Epub 2014 Dec 15. Erratum in: J Clin Transl Hepatol. 2015 Jun 28;3(2):162. PMID: 26357630; PMCID: PMC4521232. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4521232/