Cholestasis, a condition where bile flow is disrupted, has clinical features such as jaundice, severe pruritus, and elevated levels of serum bile acids (sBAs) and other hepatic parameters. Progressive familial intrahepatic cholestasis (PFIC) is a group of cholestatic liver diseases with known genetic aetiologies. However, some patients with cholestasis have symptoms consistent with PFIC but ambiguous genetics. Odevixibat, an ileal bile acid transporter inhibitor, diverts intestinal bile acids away from the liver.

We describe a case of a patient with undefined cholestasis and no unifying genetic diagnosis who was treated with odevixibat.

Within months of birth, a male patient with prolonged jaundice and raised liver parameters (Table) was found to have mild expansion of interlobular portal tracts and giant cell hepatitis with canalicular cholestasis on liver biopsy. Genetic sequencing identified a heterozygous mutation in AKR1D1 and common benign homozygous mutation of ABCB11. By age 5, the patient had progressive liver fibrosis and continued abnormal liver function tests (table 1), including elevated sBAs with severe pruritus and sleep disturbance that were refractory to conventional treatments (ie, rifampicin, ursodeoxycholic acid). At age 6, odevixibat (800 µg/day) was started for cholestasis and pruritus. Within 6 months of treatment, there was complete resolution of pruritus and dramatic improvements in his sleep. sBAs decreased from 413 µmol/L to 45 µmol/L at latest follow-up.

In a patient with undefined genetic cholestasis, odevixibat effectively resolved pruritus, improved sleep disturbance, and reduced sBAs.

Disclosures T. Grammatikopoulos: Albireo – Consultant

B. Tucker: Nothing to disclose

L.S. Casale: Nothing to disclose

P. Nagraj and V. Valcheva: Albireo – Employment

This study was sponsored by Albireo. Medical writing and editorial assistance were provided by Peloton Advantage, LLC, an OPEN Health company, and were funded by Albireo Pharma, Inc.