Vanishing bile duct syndrome
Vanishing bile duct syndrome is a loose collection of diseases which leads to the injury to hepatic bile ducts and eventual ductopenia.[1]
Etiology
Congenital/Developmental
In fetal and neonatal life the ductal plates are remodeled. The malformations can be atretic or fibrocystic.
Atretic causes
- Extrahepatic bile duct atresia
Fibrocystic causes
- Autosomal recessive polycystic kidney disease
- Congential hepatic fibrosis
- Caroli's disease
- Von Meyenburg complex
Chromosomal associations
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 disease
- Chronic graft-versus-host disease
- Drugs/Toxins
- Ischemia
Clinical presentation
The presentation is dependant upon the underlying etiology. The course can be rapid or chronic.
Symptoms
- Fatigue
- Anorexia
- Abdominal pain
- Weight loss
- Pruritis
Signs
- Hyperlipidemia
- Malabsorption
- Fat-soluble vitamin deficiencies
- Elevated alkaline phosphatase
- Elevated gamma-glutamyltransferase
- Elevated conjugated bilirubin
Treatment
Treatment is dependent upon the underlying etiology. Treatment is supportive as it is not possible to induce regrowth of lost ducts.
Medical therapies
References
External links