Ileal Bile Acid Transporter Inhibition Reduces Post-Transplant Diarrhea and Growth Failure in FIC1 Disease-A Case Report

• Published in: Children (Basel) Vol. 9; no. 5; p. 669
• Main Authors: Ohlendorf, Johanna, Goldschmidt, Imeke, Junge, Norman, Laue, Tobias, Nasser, Hamoud, Jäckel, Elmar, Mutschler, Frauke, Pfister, Eva-Doreen, Herebian, Diran, Keitel, Verena, Baumann, Ulrich
• Format: Journal Article
• Language: English
• Published: Switzerland MDPI AG 05.05.2022; MDPI
• Subjects: Acids; Age; ATP8B1 deficiency; Bile; Biopsy; Case Report; Case reports; children; Children & youth; Cholesterol; Colon; Constipation; Diarrhea; Enzymes; Failure to thrive; familial intrahepatic cholestasis 1 disease; Families & family life; Gallbladder diseases; Hyponatremia; IBAT inhibitor; Liver; liver transplantation; Liver transplants; Ostomy; Patients; Pediatrics; Plasma; Pruritus; Small intestine; Transplants & implants; ATP8B1 deficiency; Odevixibat; children; familial intrahepatic cholestasis 1 disease; case report; Elobixibat; diarrhea; IBAT inhibitor; liver transplantation
• ISSN: 2227-9067; 2227-9067
• DOI: 10.3390/children9050669

Familial intrahepatic cholestasis 1 (FIC1) disease is a genetic disorder characterized by hepatic and gastrointestinal disease due to 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.