Familial intrahepatic cholestasis is a broad disease category encompassing hereditary conditions characterized by impaired bile flow within the liver (cholestasis). The category includes several recognized subtypes: progressive familial intrahepatic cholestasis, benign recurrent intrahepatic cholestasis, and intrahepatic cholestasis of pregnancy subtypes. No population prevalence data are certified for the broad category in the current packet.

Specific phenotypic data are not certified for the broad familial intrahepatic cholestasis category in this packet. Clinical presentations vary across the recognized subtypes, each of which has a distinct documented phenotypic profile. Subtype-specific disease entries contain detailed clinical descriptions for each condition within this category.

No gene associations or inheritance patterns are certified for the broad familial intrahepatic cholestasis category in this packet. Individual subtypes within the category are each associated with specific genetic variants, documented in subtype-level disease entries. A GeneReviews chapter linked to this category addresses a specific genetic subtype of progressive familial intrahepatic cholestasis, illustrating the hereditary basis of conditions within this broader disease family.

No diagnostic methods or criteria are certified for the broad familial intrahepatic cholestasis category in this packet. Diagnostic approaches are documented at the subtype level and typically involve hepatological evaluation, as described in the GeneReviews chapter linked to this category.

No approved pharmacological treatments or foundational therapies are certified for the broad familial intrahepatic cholestasis category in this packet. Management strategies are documented at the individual subtype level.

Prognosis is not certified in this packet for the broad familial intrahepatic cholestasis category. Outcomes are documented at the subtype level; recognized subtypes span clinically distinct presentations with differing natural histories.

Several active clinical trial records are present for conditions within the familial intrahepatic cholestasis category. Notable studies include an effectiveness and safety study of odevixibat in participants with progressive familial intrahepatic cholestasis in South Korea (NCT07185919, Ipsen, recruiting) and a genetic variation study linking cholestasis-related gene variants to symptoms in adults in Spain (NCT07191704, Ipsen, recruiting). Active clinical trials for this condition are listed on ClinicalTrials.gov.