Childhood Cholestatic Liver Diseases that Persist Into Adulthood Lessons for the Adult Gastroenterologist

Children with cholestatic liver diseases are increasingly living into adulthood, thanks to innovations in medical and surgical therapies. The excellent outcomes observed in pediatric liver transplantation for diseases, such as biliary atresia, have transformed the life trajectory of children born with once-fatal liver diseases. The evolution of molecular genetic testing, has helped expedite the diagnosis of other cholestatic disorders, improving the clinical management, disease prognosis, and family planning for inherited disorders, such as progressive familial intrahepatic cholestasis and bile acid synthesis disorders. The expanding list of therapeutics, including bile acids and the newer ileal bile acid transport inhibitors, has also helped slow the progression of disease and improve the quality of life for certain diseases, like Alagille syndrome. More and more children with cholestatic disorders are expected to require care from adult providers familiar with the natural history and potential complications of these childhood diseases. The aim of this review is to bridge the gap between pediatric and adult care in children with cholestatic disorders. The present review addresses the epidemiology, clinical features, diagnostic testing, treatment, prognosis, and transplant outcomes of 4 hallmark childhood cholestatic liver diseases: biliary atresia, Alagille syndrome, progressive familial intrahepatic cholestasis, and bile acid synthesis disorders.

Automated summary

Thanks to innovations in medical and surgical therapies, children with cholestatic liver diseases are living longer. Pediatric liver transplantation, especially for biliary atresia, has greatly improved outcomes. Molecular genetic testing has sped up diagnosis for other cholestatic disorders, aiding in management, prognosis, and family planning. Therapeutics like bile acids and bile acid transport inhibitors have slowed disease progression and improved quality of life for certain disorders. The aim of this review is to bridge the gap between pediatric and adult care for these childhood cholestatic liver diseases.