Overview
Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome (sometimes called PBC-AIH overlap or PSC-AIH overlap) is a rare liver condition where a person has features of two different autoimmune liver diseases at the same time. In autoimmune liver diseases, the body's immune system mistakenly attacks the liver or the bile ducts — the small tubes that carry digestive fluid (bile) out of the liver. In this overlap syndrome, patients show signs of either primary biliary cholangitis (PBC) or primary sclerosing cholangitis (PSC) alongside autoimmune hepatitis (AIH). This combination makes the disease harder to diagnose and treat than either condition alone. The liver becomes inflamed over time, and the bile ducts can become scarred and blocked. This leads to a buildup of bile in the liver, which causes damage to liver cells. Over months or years, this can lead to liver scarring (fibrosis) and, in serious cases, cirrhosis — where the liver loses its ability to work properly. Common symptoms include tiredness, itchy skin, yellowing of the skin or eyes (jaundice), abdominal discomfort, and abnormal liver blood tests. Treatment usually involves a combination of medicines used for each individual condition, such as ursodeoxycholic acid (UDCA) and corticosteroids like prednisone. With careful management, many patients can slow the progression of liver damage, but close monitoring by a liver specialist is essential.
Key symptoms:
Persistent tiredness and low energyItchy skin (often worse at night)Yellowing of the skin or whites of the eyes (jaundice)Pain or discomfort in the upper right side of the abdomenDark-colored urinePale or greasy stoolsNausea or loss of appetiteSwelling in the abdomen due to fluid buildup (ascites)Easy bruising or bleedingDry eyes and dry mouthJoint aches and painsUnexplained weight lossSwollen legs or ankles
Clinical phenotype terms (36)— hover any for plain English
Multifactorial
Caused by a mix of several genes and environmental factors
Adult
Begins in adulthood (age 18 or older)
Treatments
No FDA-approved treatments are currently listed for Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome at this time.
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Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.Which specific overlap syndrome do I have — PBC-AIH or PSC-AIH — and how does that affect my treatment plan?,How much liver damage do I already have, and what stage is my liver disease?,What combination of medications do you recommend for me, and what are the main side effects I should watch for?,How often do I need blood tests and liver imaging, and what are you looking for in those results?,At what point would you consider liver transplantation, and should I be referred to a transplant center now?,Are there any clinical trials or newer treatments I might be eligible for?,Are there lifestyle changes — such as diet, exercise, or supplements — that could help protect my liver?
Common questions about Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome
What is Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome?
Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome (sometimes called PBC-AIH overlap or PSC-AIH overlap) is a rare liver condition where a person has features of two different autoimmune liver diseases at the same time. In autoimmune liver diseases, the body's immune system mistakenly attacks the liver or the bile ducts — the small tubes that carry digestive fluid (bile) out of the liver. In this overlap syndrome, patients show signs of either primary biliary cholangitis (PBC) or primary sclerosing cholangitis (PSC) alongside autoimmune hepatit
How is Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome inherited?
Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome follows a multifactorial inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome typically begin?
Typical onset of Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome is adult. Age of onset can vary across affected individuals.
Which specialists treat Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome?
1 specialists and care centers treating Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.