Treatment with an ileal bile acid transporter inhibitor in patients with TJP2 deficiency.

There are no published data on the use of odevixibat, a selective ileal bile acid transporter (IBAT) inhibitor, in children with tight junction protein 2 (TJP2) deficiency (also named as PFIC-4). We describe a case series of five children treated with odevixibat. After treatment, serum bile acids (sBA) decreased compared to baseline [mean value: 244 (±125), vs 38 (±34) µmol/L; p = 0.007]; reduction in sBA was >70% from baseline (or <70 µmol/L) in all. Improvements in pruritus were reported in all patients. The drug was well tolerated. IBAT inhibitors should be considered a valuable treatment option in patients with TJP2 deficiency.