MDR3 deficiency is associated with end-stage liver disease including liver failure, portal hypertension and primary liver cancer, with increasing recognition of adult presentations. We report our single centre experience of liver transplantation (LT) for adult presentations of MDR3 deficiency.

A single centre retrospective study of patients who underwent LT for MDR3 deficiency from 2013-2024 and were first diagnosed above the age of 16 years. We identified demographic and clinical data from the electronic patient records.

There were 7 patients with genetically confirmed MDR3 deficiency who underwent LT, including 3 (43%) females, and median age at LT was 31.9 years (range, 25-37). Severity of liver disease at assessment: median bilirubin 266 µmol/L (range, 38-726 µmol/L) and MELD 22 (range, 11-38). Due to severity of liver disease and clinical trajectory, organ allocation was prioritised in 4 (57%) patients, either internally or nationally. All patients had at least 1 suspected aetiology of liver disease prior to the diagnosis of MDR3 deficiency. Only 4 (57%) were diagnosed with MDR3 deficiency at time of LT assessment, and patients with a known diagnosis of MDR3 deficiency were assessed for LT at an earlier stage of liver disease.

Patients with MDR3 deficiency can be assessed for LT at advanced stages of liver disease, and the diagnosis may be reached after transplant. Genetic testing can facilitate and accurate diagnosis and allow personalised management. The timing of LT assessment needs to be considered carefully in MDR3 deficiency.