Vanishing bile duct syndrome is a loose collection of diseases leading to hepatic bile duct injury and eventual ductopenia.
Signs and symptoms 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
External links Uptodate:Hepatic ductopenia and vanishing bile duct syndrome