Ileal Bile Acid Transporter Inhibition Reduces Post-Transplant Diarrhea and Growth Failure in FIC1 Disease—A Case Report
Johanna Ohlendorf,
Imeke Goldschmidt,
Norman Junge,
Tobias Laue,
Hamoud Nasser,
Elmar Jäckel,
Frauke Mutschler,
Eva-Doreen Pfister,
Diran Herebian,
Verena Keitel,
Ulrich Baumann
Affiliations
Johanna Ohlendorf
Department of Kidney, Liver and Metabolic Diseases, Division of Pediatric Gastroenterology and Hepatology, Hannover Medical School, 30625 Hannover, Germany
Imeke Goldschmidt
Department of Kidney, Liver and Metabolic Diseases, Division of Pediatric Gastroenterology and Hepatology, Hannover Medical School, 30625 Hannover, Germany
Norman Junge
Department of Kidney, Liver and Metabolic Diseases, Division of Pediatric Gastroenterology and Hepatology, Hannover Medical School, 30625 Hannover, Germany
Tobias Laue
Department of Kidney, Liver and Metabolic Diseases, Division of Pediatric Gastroenterology and Hepatology, Hannover Medical School, 30625 Hannover, Germany
Hamoud Nasser
Department of Kidney, Liver and Metabolic Diseases, Division of Pediatric Gastroenterology and Hepatology, Hannover Medical School, 30625 Hannover, Germany
Elmar Jäckel
Department of Gastroenterology, Hepatology and Endocrinology, Hannover Medical School, 30625 Hannover, Germany
Frauke Mutschler
Department of Kidney, Liver and Metabolic Diseases, Division of Pediatric Gastroenterology and Hepatology, Hannover Medical School, 30625 Hannover, Germany
Eva-Doreen Pfister
Department of Kidney, Liver and Metabolic Diseases, Division of Pediatric Gastroenterology and Hepatology, Hannover Medical School, 30625 Hannover, Germany
Diran Herebian
Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, Heinrich-Heine University, 40225 Düsseldorf, Germany
Verena Keitel
Department of Gastroenterology, Hepatology and Infectious Diseases, Otto-von-Guericke University, 39106 Magdeburg, Germany
Ulrich Baumann
Department of Kidney, Liver and Metabolic Diseases, Division of Pediatric Gastroenterology and Hepatology, Hannover Medical School, 30625 Hannover, Germany
Familial intrahepatic cholestasis 1 (FIC1) disease is a genetic disorder characterized by hepatic and gastrointestinal disease due to ATP8B1 deficiency, often requiring liver transplantation (LT). Extrahepatic symptoms, such as diarrhea, malabsorption, and failure to thrive, do not improve and instead may be aggravated after LT. We describe a patient with FIC1 disease who underwent LT at 2 years, 8 months of age. After LT, the child developed severe refractory diarrhea and failed to thrive. The response to bile acid resins was unsatisfactory, and the parents declined our recommendation for partial external biliary diversion (PEBD). Quality of life was extremely impaired, especially due to severe diarrhea, making school attendance impossible. Attempting to reduce the total bile acids, we initiated off-label use of the ileal bile acid transporter (IBAT) inhibitor Elobixibat (Goofice™), later converted to Odevixibat (Bylvay™). After six months of treatment, the patient showed less stool output, increased weight and height, and improved physical energy levels. The child could now pursue higher undergraduate education. In our patient with FIC1 disease, the use of IBAT inhibitors was effective in treating chronic diarrhea and failure to thrive. This approach is novel; further investigations are needed to clarify the exact mode of action in this condition.
