Overview
Progressive familial intrahepatic cholestasis type 4 (PFIC4) is a rare inherited liver disease that affects how bile flows from the liver. Bile is a digestive fluid made by the liver that helps break down fats. In PFIC4, a faulty gene causes a problem with a protein called TJP2 (tight junction protein 2), which normally helps keep liver cells tightly connected and working properly. When this protein does not work correctly, bile builds up inside the liver instead of flowing out normally. This buildup causes damage to liver cells over time. The main symptoms of PFIC4 include severe, persistent itching (called pruritus), yellowing of the skin and eyes (jaundice), and a swollen belly due to liver enlargement. Children with PFIC4 often show symptoms in infancy or early childhood. Over time, the ongoing liver damage can lead to scarring of the liver (cirrhosis) and liver failure if not treated. Some patients also have an increased risk of liver cancer. Treatment options include medications to relieve itching and improve bile flow, as well as surgical procedures. Liver transplantation can be a life-saving option for patients with severe disease. Research into new targeted therapies is ongoing, giving hope for better treatments in the future.
Also known as:
Key symptoms:
Severe, persistent itching all over the bodyYellowing of the skin and whites of the eyes (jaundice)Enlarged liverEnlarged spleenSwollen belly (abdominal distension)Poor growth and failure to gain weight normallyFatigue and low energyDark urinePale or greasy stoolsEasy bruising or bleeding due to poor vitamin absorptionLiver scarring (cirrhosis) in advanced diseaseIncreased risk of liver cancer (hepatocellular carcinoma)
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Progressive familial intrahepatic cholestasis type 4.
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Specialists
View all specialists →No specialists are currently listed for Progressive familial intrahepatic cholestasis type 4.
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 Progressive familial intrahepatic cholestasis type 4.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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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.What stage is my child's liver disease at, and how quickly might it progress?,Which medications are most likely to help with the itching, and what are the side effects?,Should we consider surgical options like biliary diversion, and would my child be a candidate?,At what point would you recommend evaluation for a liver transplant?,Are there any clinical trials or new treatments we should know about?,What vitamins and dietary changes does my child need, and how often should we check levels?,How often should we monitor for liver cancer, and what screening tests are used?
Common questions about Progressive familial intrahepatic cholestasis type 4
What is Progressive familial intrahepatic cholestasis type 4?
Progressive familial intrahepatic cholestasis type 4 (PFIC4) is a rare inherited liver disease that affects how bile flows from the liver. Bile is a digestive fluid made by the liver that helps break down fats. In PFIC4, a faulty gene causes a problem with a protein called TJP2 (tight junction protein 2), which normally helps keep liver cells tightly connected and working properly. When this protein does not work correctly, bile builds up inside the liver instead of flowing out normally. This buildup causes damage to liver cells over time. The main symptoms of PFIC4 include severe, persistent
How is Progressive familial intrahepatic cholestasis type 4 inherited?
Progressive familial intrahepatic cholestasis type 4 follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Progressive familial intrahepatic cholestasis type 4 typically begin?
Typical onset of Progressive familial intrahepatic cholestasis type 4 is infantile. Age of onset can vary across affected individuals.