Progressive familial intrahepatic cholestasis (PFIC) and Alagille syndrome (AS) are conditions caused by either an autosomal recessive or an autosomal dominant genetic defect, and they are both characterized by cholestasis, jaundice, and severe debilitating pruritus refractory to medical management. Before the advent of liver transplantation, most PFIC patients would die from end-stage liver disease in the first decade of life. Although liver transplantation has led to patients’ survival, disease recurrence (PFIC-2) and severe extra-hepatic manifestations of the disease (PFIC-1) occurred post transplant. In the late 1980s, Whitington described the use of partial external biliary diversion in PFIC and AS patients as a successful way to improve symptoms and decrease circulating bile acid serum concentrations. Since then, other diversion techniques have been described (ileal exclusion and partial internal biliary diversion). These techniques have the benefit of avoiding a stoma, but equivalent results have not been demonstrated (recurrence of cholestasis after ileal exclusion, limited follow up after internal biliary diversion). Overall, studies have showed that biliary diversions in children with cholestasis are safe procedures with low morbidity and mortality, and that they can reduce inflammation and ongoing liver injury, therefore delaying or avoiding the need for liver transplantation in some patients.
- Alagille syndrome
- Ileal exclusion
- Partial external and internal biliary diversion
- Progressive familial intrahepatic cholestasis
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health