Background & Aims: In episodic intrahepatic cholestasis (IC; known historically as benign recurrent intrahepatic cholestasis), intermittent cholestasis is typically followed by periods of remission. During cholestatic episodes, symptoms can include jaundice, fatigue, abdominal pain, diarrhoea, and severe pruritus that can interfere with patients' lives. Here, we report clinical features and response to odevixibat, an ileal bile acid transporter inhibitor, in patients with episodic IC associated with biallelic mutations in ATP8B1. Methods: Clinical information before and after odevixibat initiation was collected. Results: Six patients diagnosed with episodic IC were included. During cholestatic episodes before odevixibat, all patients had high serum bile acids and severe pruritus associated with sleep and/or mood disturbances that affected patients' quality of life. Physicians initiated odevixibat (dose range: 28–120 μg/kg/day) either during a cholestatic relapse (5/6 patients) or prophylactically (1 patient), resulting in marked symptom improvement in 4/6 (67%) patients and partial improvement in 2/6 (33%); rapid reductions in serum bile acids were reported in 3/6 patients (50%). All patients had improved pruritus and resumed daily activities. Subsequently, patients either stopped treatment after the disappearance of cholestasis or continued treatment. Patients had further cholestatic episodes. Conclusions: In this case series, most patients with episodic IC associated with biallelic mutations in ATP8B1 treated with odevixibat during a relapse of cholestasis had clinical improvement, including reductions in serum bile acids and positive impacts on pruritus and quality of life. Treatment did not appear to have a preventive effect on future episodes. More studies are needed to confirm these findings.
