Living with Congenital hepatic fibrosis
A liver condition present from birth with oddly formed bile ducts and scarring, which can raise pressure in the liver's blood vessels.
Understanding Congenital hepatic fibrosis
Scar tissue (fibrosis) builds up in the liver's portal tracts, which narrows veins and raises blood pressure in the liver's portal system (portal hypertension). That pressure can stretch the veins in the esophagus, stomach and intestines and raise the risk of bleeding. People have an enlarged liver and spleen, and a higher risk of bile duct infection and gallstones.
Signs & symptoms
GARD doesn't list a separate symptom list for this condition. The summary describes:
- Enlarged liver and spleen
- High pressure in the liver's portal veins (portal hypertension)
- Risk of bleeding from stretched veins
- Bile duct infection (cholangitis)
- Gallstones
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include digestive system specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Digestive system specialists (gastroenterologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD describes abnormal formation of the bile ducts and portal blood vessels, and doesn't list a specific gene or inheritance pattern.
Also known as: congenital liver fibrosis; excessive buildup of connective tissue and scarring of liver at birth; isolated chf; isolated congenital hepatic fibrosis; nonsyndromic congenital hepatic fibrosis
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Congenital hepatic fibrosis.
Explore research for Congenital hepatic fibrosis
Explore actively recruiting Congenital hepatic fibrosis studies with HealthSpark.
Find actively recruiting studies for Congenital hepatic fibrosis with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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