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Caroli syndrome
Disease definition
A rare genetic hepatic disease characterized by multiple segmental cystic dilatations of both central and smaller peripheral bile ducts associated with congenital hepatic fibrosis. Age of symptom onset is variable, as is disease progression. Patients present recurrent cholangitis, hepatolithiasis, and cholecystolithiasis. Portal hypertension may appear later in the disease course, and the risk of developing cholangiocarcinoma is increased significantly. The syndrome is often associated with autosomal recessive polycystic kidney disease.
ORPHA:480520
Classification level: Disorder- Synonym(s): -
- Prevalence: Unknown
- Inheritance: Autosomal recessive
- Age of onset: All ages
- ICD-10: Q44.6
- OMIM: -
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
A summary on this disease is available in Deutsch (2020) Español (2020) Français (2020) Nederlands (2020)
Detailed information
General public
- Article for general public
- Svenska (2016) - Socialstyrelsen
: produced/endorsed by ERN(s)
: produced/endorsed by FSMR(s)Additional information
Further information on this disease
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