Overview
Isolated congenital hepatic fibrosis (also called isolated CHF) is a rare liver condition that a person is born with. In this disease, the tiny tubes inside the liver that carry bile (called bile ducts) do not develop normally. Instead of forming properly, they are replaced by scar-like fibrous tissue. This scarring builds up in the liver over time and can block normal blood flow through the organ, leading to a condition called portal hypertension — meaning the blood pressure inside the liver's main vein becomes too high. The most common symptoms include an enlarged liver and spleen, vomiting blood from swollen veins in the esophagus (called varices), and repeated infections in the bile ducts (cholangitis). Unlike many other liver diseases, the liver cells themselves often work fairly well for a long time, so jaundice and liver failure may not appear until later in life, if at all. Treatment focuses on managing complications rather than curing the underlying problem. Doctors use medications, procedures to treat bleeding varices, and antibiotics for infections. In severe cases, a liver transplant may be considered. With careful monitoring and treatment, many people with isolated congenital hepatic fibrosis can live into adulthood, though regular specialist follow-up is essential throughout life.
Also known as:
Key symptoms:
Enlarged liver (hepatomegaly)Enlarged spleen (splenomegaly)Vomiting blood due to swollen veins in the food pipe (esophageal varices)High blood pressure in the liver's main vein (portal hypertension)Repeated infections of the bile ducts (cholangitis) causing fever and abdominal painAbdominal swelling or discomfortLow platelet count leading to easy bruising or bleedingAnemia causing tiredness and pale skinYellowing of the skin or eyes (jaundice) — less common, usually laterPoor appetite or slow weight gain in children
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Variable
Can begin at different ages, from infancy through adulthood
FDA & Trial Timeline
6 eventsThe First Affiliated Hospital with Nanjing Medical University — NA
Clinica Universidad de Navarra, Universidad de Navarra — NA
Ralf Rothoerl — PHASE2
University of Sao Paulo General Hospital — NA
French Cardiology Society — NA
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Isolated congenital hepatic fibrosis.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Isolated congenital hepatic fibrosis at this time.
New trials open frequently. Follow this disease to get notified.
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 Isolated congenital hepatic fibrosis.
Community
No community posts yet. Be the first to share your experience with Isolated congenital hepatic fibrosis.
Start the conversation →Latest news about Isolated congenital hepatic fibrosis
Disease timeline:
New recruiting trial: Studies of Neuregulin/ERBB Signaling in Human Heart
A new clinical trial is recruiting patients for Isolated congenital hepatic fibrosis
New recruiting trial: Noninvasive Elastography Evaluation of Myocardial Stiffness in Elderly Patients With Isolated Diastolic Heart Failure: New Diagnostic Tool?
A new clinical trial is recruiting patients for Isolated congenital hepatic fibrosis
New recruiting trial: Study to Assess Safety and Efficacy of Treating Symptomatic, Ischemic, Chronic Congestive Heart Failure Patients with an LVEF of ≤40% with Fresh, Uncultured, Autologous, Adipose-derived Regenerative Cells Isolated from Lipoaspirate.
A new clinical trial is recruiting patients for Isolated congenital hepatic fibrosis
New recruiting trial: Isolated Resistance Training and Neuromuscular Electrical Stimulation in Patients With Femoral Intra Aortic Balloon Pump.
A new clinical trial is recruiting patients for Isolated congenital hepatic fibrosis
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.What stage is my liver disease at right now, and how will you monitor it over time?,Should I have genetic testing, and could other family members be at risk?,What are the warning signs of a bleeding episode, and what should I do if one happens?,How often do I need endoscopy to check for varices, and what treatment options are available if they are found?,Are there any activities or foods I should avoid to protect my liver?,At what point would a liver transplant be considered, and what does that process involve?,Are there any clinical trials or new treatments I should know about?
Common questions about Isolated congenital hepatic fibrosis
What is Isolated congenital hepatic fibrosis?
Isolated congenital hepatic fibrosis (also called isolated CHF) is a rare liver condition that a person is born with. In this disease, the tiny tubes inside the liver that carry bile (called bile ducts) do not develop normally. Instead of forming properly, they are replaced by scar-like fibrous tissue. This scarring builds up in the liver over time and can block normal blood flow through the organ, leading to a condition called portal hypertension — meaning the blood pressure inside the liver's main vein becomes too high. The most common symptoms include an enlarged liver and spleen, vomiting
How is Isolated congenital hepatic fibrosis inherited?
Isolated congenital hepatic fibrosis follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
Which specialists treat Isolated congenital hepatic fibrosis?
3 specialists and care centers treating Isolated congenital hepatic fibrosis are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.