Rare Nephrology News

Disease Profile

Primary biliary cholangitis

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

1-5 / 10 000

US Estimated

Europe Estimated

Age of onset

Adolescent

ICD-10

K74.3

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

PBC; Familial primary biliary cirrhosis; Primary Biliary Cirrhosis

Categories

Digestive Diseases

Summary

Primary biliary cholangitis (PBC) is a chronic, progressive liver disease in which the bile ducts become inflamed and damaged.[1][2][3] This leads to the buildup of bile and causes liver problems such as scarring, cirrhosis (scarring and poor liver function), and eventual liver failure.[1] PBC is more common in women.[1][3][4] Many people do not have symptoms when they are first diagnosed and may not develop symptoms for several years.[1][2] Early symptoms may include fatigue (the most common symptom), itchy skin (pruritus), and abdominal pain.[1][2] As the disease progresses, people with PBC may develop weakness, nausea, diarrhea, swelling in the legs and feet (edema), bone and joint pain, jaundice, dark urine, and xanthomas.[1][3] The symptoms of PBC can significantly impair quality of life.[2]

The diagnosis of PBC may involve blood tests, imaging studies (such as X-ray or ultrasound), and sometimes, a liver biopsy.[1][2] Blood tests may include tests for anti-mitochondrial antibodies (which may confirm the diagnosis), liver function tests, and cholesterol tests.[1][2] Abnormal blood test results commonly lead to the diagnosis in people with PBC who do not have symptoms.[1]

PBC is considered an autoimmune disease in which the immune system malfunctions and mistakenly attacks a person’s healthy bile duct cells, causing the inflammation and damage.[1] It is thought to be caused by a combination of genetic susceptibility and environmental triggers (multifactorial inheritance).[1][2]

The first treatment recommended for people with PBC is ursodiol, also called ursodeoxycholic acid (UDCA), which has been shown to slow disease progression and reduce the need for a liver transplant.[1][2] Obeticholic acid (OCA) is available as a second-line treatment either in combination with UDCA (in those with an inadequate response to UDCA), or by itself (in those who are not able to tolerate UDCA).[2][3] The symptoms of PBC typically do not improve with UDCA or OCA, so individual symptoms are treated separately.[2] A liver transplant may be needed when PBC leads to liver failure.[1]

The rate of progression varies greatly among people with PBC, and the disease may progress over many decades before resulting in end-stage liver disease and its complications.[2][3]

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Biliary cirrhosis
0002613
Cirrhosis
Scar tissue replaces healthy tissue in the liver
0001394
Conjugated hyperbilirubinemia
0002908
Dermatographic urticaria
0011971
Hyperpigmentation of the skin
Patchy darkened skin
0000953
30%-79% of people have these symptoms
Abnormal circulating lipid concentration
0003119
Abnormality of the intrahepatic bile duct
0011040
Abnormality of the thyroid gland
Thyroid abnormality
0000820
Antinuclear antibody positivity
0003493
Elevated alkaline phosphatase
Greatly elevated alkaline phosphatase
High serum alkaline phosphatase
Increased alkaline phosphatase
Increased serum alkaline phosphatase

[ more ]

 0003155
Hepatic failure
Liver failure
0001399
Hepatic fibrosis
0001395
Hepatocellular carcinoma
0001402
Increased circulating IgM level
0003496
Jaundice
Yellow skin
Yellowing of the skin

[ more ]

 0000952
Onychomycosis
0012203
Orthostatic hypotension
Decrease in blood pressure upon standing up
0001278
Portal hypertension
0001409
Pruritus
Itching
Itchy skin
Skin itching

[ more ]

 0000989
5%-29% of people have these symptoms
Abdominal distention
Abdominal bloating
Abdominal swelling
Belly bloating
Bloating

[ more ]

 0003270
Ascites
Accumulation of fluid in the abdomen
0001541
Celiac disease
0002608
Excessive daytime somnolence
Excessive daytime sleepiness
More than typical sleepiness during day

[ more ]

 0001262
Fatigue
Tired
Tiredness

[ more ]

 0012378
Hepatitis
Liver inflammation
0012115
Hypoalbuminemia
Low blood albumin
0003073
Increased circulating IgA level
0003261
Osteoporosis
0000939
1%-4% of people have these symptoms
Gastrointestinal inflammation
0004386
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance
0000006
Do you have updated information on this disease? We want to hear from you.

Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • Orphanet lists international laboratories offering diagnostic testing for this condition.

    Treatment

    Treatment for primary biliary cholangitis (PBC) is life-long and aims to slow the disease progression and improve the symptoms that reduce quality of life.[3] The first-line treatment for PBC is long-term use of ursodiol, also called ursodeoxycholic acid (UDCA). This medication, which is approved by the Food and Drug Administration (FDA) for the treatment of PBC, has been shown to slow disease progression and reduce the need for a liver transplant.[1][2] Liver function should be monitored periodically to help detect people who do not adequately respond to UDCA.[2] Because UDCA therapy does not improve fatigue, itching (pruritus), bone problems, and many other signs and symptoms of PBC, these should be addressed separately.[2]

    Obeticholic acid (OCA), a second-line treatment for PBC, is also approved by the FDA. OCA may be used along with UDCA in people who have an inadequate response after at least a year of treatment. It may also be used as a single treatment in people who cannot tolerate UDCA.[2] OCA is used to increase the flow of bile from the liver.[2] Studies investigating the effect that OCA has on survival of people with PBC are ongoing, but data suggest that its use in combination with UDCA may lower the risk for liver complications and liver-related deaths.[2] OCA is not recommended in people with PBC who have advanced liver disease (decompensated cirrhosis).[2] Like UCDA, OCA typically does not improve symptoms of PBC.[2]

    Fibrates, medications currently approved by the FDA as lipid-lowering medications, are being studied as a promising new drug for PBC and may improve liver function as well as pruritus.[2] Like OCA, the use of fibrates is also discouraged in people with decompensated liver disease.[2]

    Because the symptoms of PBC do not typically improve with UDCA or OCA treatment, they are treated separately.[2] Management of pruritus may include lifestyle modifications (such as avoiding tight clothing and using moisturizers) and/or medications such as cholestyramine.[2][4]

    Liver transplantation may be successful in people who have the transplant before liver failure occurs.[4]

    Details regarding treatment guidelines for PBC are available from the American Association for the Study of Liver Diseases.

    FDA-Approved Treatments

    The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.

    Organizations

    Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

    Organizations Supporting this Disease

      Organizations Providing General Support

        Learn more

        These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

        Where to Start

          In-Depth Information

          • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
          • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
          • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
          • Online Mendelian Inheritance in Man (OMIM) lists the subtypes and associated genes for Primary biliary cholangitis in a table called Phenotypic Series. Each entry in OMIM includes a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
          • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
          • PubMed is a searchable database of medical literature and lists journal articles that discuss Primary biliary cholangitis. Click on the link to view a sample search on this topic.

            References

            1. Primary Biliary Cholangitis (Primary Biliary Cirrhosis). The National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK). March, 2017; https://www.niddk.nih.gov/health-information/liver-disease/primary-biliary-cholangitis/all-content.
            2. Lindor KD, Bowlus CL, Boyer J, Levy C, Mayo M. Primary Biliary Cholangitis: 2018 Practice Guidance from the American Association for the Study of Liver Diseases. Hepatology. January, 2019; 69(1):394-419. https://www.aasld.org/sites/default/files/guideline_documents/PracticeGuidelines-PBC-November2018.pdf.
            3. European Association for the Study of the Liver. EASL Clinical Practice Guidelines: The diagnosis and management of patients with primary biliary cholangitis. J Hepatol. July, 2017; 67(1):145-172. https://www.ncbi.nlm.nih.gov/pubmed/28427765.
            4. Primary biliary cirrhosis. MedlinePlus. April 7, 2018; https://medlineplus.gov/ency/article/000282.htm.

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