Carriers of ABCB4 gene variants show a mild clinical course, but impaired quality of life and limited risk for cholangiocarcinoma.
Elsemieke de VriesMarta MazzettiBart TakkenbergNahid MostafaviHennie BikkerMarco MarzioniRozanne de VeerAdriaan van der MeerMichael DoukasJoanne VerheijUlrich H W BeuersPublished in: Liver international : official journal of the International Association for the Study of the Liver (2021)
ABCB4 deficiency has a mild clinical course, but impaired quality of life and limited risk of CCA. The Nakanuma scoring system appears feasible for histological evaluation in ABCB4 deficiency.