Vanishing Bile Duct Syndrome

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Retrieved
2021-01-18
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Vanishing bile duct syndrome is a loose collection of diseases which leads to the injury to hepatic bile ducts and eventual ductopenia.

Signs and symptoms

The presentation is dependent upon the underlying cause. The course can be rapid or chronic.

Signs and symptoms

  • 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
  • Congential 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

Diagnosis

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