Living with Caroli disease
A condition in which bile ducts in the liver are widened, along with kidney cysts, causing repeated liver problems.
Understanding Caroli disease
People with this condition can have repeated episodes of slowed bile flow (cholestasis), stones in the bile ducts, and bacterial infection of the bile ducts (cholangitis). In Caroli syndrome, liver scarring (fibrosis) and high blood pressure in the portal vein (portal hypertension) may also occur.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Belly pain
- Yellowing of the skin and eyes (jaundice)
- Bile duct infection (cholangitis)
- Slowed or blocked flow of bile (cholestasis)
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 and genetic specialists.
- 3Consider genetic testing
Changes in PKHD1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Digestive system specialists (gastroenterologists); Genetic specialists (geneticists)
- 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 ARPKD/CHF Alliance
- 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
Changes in the PKHD1 gene are linked to this condition. It is inherited in an autosomal recessive way, so a child inherits a changed copy of the gene from each parent. GARD says the underlying cause is poorly understood.
Patient organizations
- ARPKD/CHF AllianceCaroli disease · United States
You are more than your diagnosis
Perspectives from people navigating life with Caroli disease.
Explore research for Caroli disease
Explore actively recruiting Caroli disease studies with HealthSpark.
Find actively recruiting studies for Caroli disease 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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