Nonprogressive Liver Diseases

The syndrome of arteriohepatic dysplasia (Alagille’s Syndrome) is an autosomal dominant disorder, characterized by interlobular bile duct paucity variably associated to other clinical, laboratory and radiological manifestations. The syndrome was first reported by Watson & and Alagille &. Recently, mutations of the  Jagged-1 (JAG1) gene, located on chromosome 20, have been identified in Alagille’s Syndrome &. The JAG1 gene encodes a ligand in the Notch signaling pathway which is involved in cell fate determination. Different mutations, including total gene deletions as well as nonsense, splicing, and missense mutations of the gene, result in a highly variable expression of the disease, all classified as syndromic paucity of interlobular bile ducts. Histopathology of the disease is characterized by early and late changes, well described in recent reviews &.
Medical management of patients with Alagille’s syndrome is based on supplementation of fat-soluble vitamins, treatment of pruritus, and on support of associated extrahepatic complications. Even if the prognosis is good, relevant morbidity is related to growth failure, pruritus, xanthomas $, and liver function deterioration. Hepatocellular carcinoma has been described &.
Liver transplantation is indicated for debilitating and intractable pruritus, poor quality of life, end-stage liver disease, portal hypetension.