Vanishing bile duct syndrome

The presentation is dependent upon the underlying cause. The course can be rapid or chronic. • Fatigue • Anorexia • Abdominal pain • Weight loss • Pruritus • Hyperlipidemia • Malabsorption • Fat-soluble vitamin deficiencies • Elevated alkaline phosphatase • Elevated gamma-glutamyltransferase • Elevated conjugated bilirubin ==Cause==

Congenital In fetal and neonatal life, the ductal plates are remodeled. The malformations can be atretic or fibrocystic. Atretic causes • Intrahepatic bile duct atresia (Alagille syndrome) (ALGS2 MIM:610205 and ALGS1 MIM:118450) • Extrahepatic bile duct atresia Fibrocystic causes • Autosomal recessive polycystic kidney disease • Congenital hepatic fibrosis • Caroli's disease • Von Meyenburg complex Chromosomal associations • Trisomy 17, 18 and 21 Genetic associations • Cystic fibrosis • Alpha 1 antitrypsin deficiency • Trihydroxycoprostanic acidemia • Byler's disease Immunologic associations Bile duct injury and loss can result from autoimmune destruction. T cells recognize biliary epithelial cell antigens causing injury and eventual atresia. Other causes • Primary biliary cirrhosis • Primary sclerosing cholangitis • Hodgkin's lymphoma • Chronic graft-versus-host disease • Drugs(chlorpromazine)/Toxins • Ischemia ==Treatment==

Treatment is dependent upon the underlying cause. Treatment is supportive as it is not possible to induce regrowth of lost ducts. Medical therapies • Ursodeoxycholic acid • Immunosuppression • General consensus is that more studies are needed before this can be considered • Organ transplant == References ==