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Genetic and Rare Diseases Information Center (GARD)

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Congenital extrahepatic portosystemic shunt

Other Names for this Disease
  • Abernethy malformation
  • CEPS
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What is congenital extrahepatic portosystemic shunt (CEPS)?

Congenital extrahepatic portosystemic shunt (CEPS), also known as Abernethy malformation, occurs when blood vessels near the liver do not form correctly during fetal development.  The hepatic portal vein delivers blood to the liver; in CEPS, the portal vein may not develop or another blood vessel may attach to the portal vein, redirecting (shunting) blood away from the liver rather than through the liver. CEPS is divided into two types based on if blood can flow through the liver. In type 1, certain blood vessels in the liver are missing. In type 2, these blood vessels are present but they have abnormal connections.  Both types can be associated with other complications, such congenital heart disease, liver disease, nodules on the liver, and hepatic encephalopathy.[1][2]
Last updated: 6/20/2012

How might congenital extrahepatic portosystemic shunt be diagnosed?

Congenital extrahepatic portosystemic shunt (CEPS) is often diagnosed during an ultrasound examination of an infant who shows signs of liver disease.  Otherwise, CEPS may be diagnosed by chance during an ultrasound done for other reasons.  A magnetic resonance angiography (MRA) may help to clarify a diagnosis of CEPS by allowing a physician to see the blood vessels of the liver; computer tomography (CT) angiography can also be helpful, but is less desirable as it includes radiation exposure.[1] 
Last updated: 2/1/2012

What are the symptoms of congenital extrahepatic portosystemic shunt?

The symptoms of congenital extrahepatic portosystemic shunt (CEPS) vary and are caused by blood not moving through the liver.  The liver removes certain toxic chemicals from the blood; if a CEPS exists, these chemicals stay in the blood and can cause signs of liver disease or problems in the brain (hepatic encephalopathy).  Hepatic encephalopathy occurs more often in older people with CEPS.[1]
Last updated: 2/1/2012

How might congenital extrahepatic portosystemic shunt (CEPS) be treated?

Because congenital extrahepatic portosystemic shunts (CEPS) are rare, there are no guidelines for standard treatment of this condition.[2]  Treatment is determined on an individual basis and depends on the type of CEPS.  In type I CEPS, liver transplantation is thought to be the only treatment.  Type II CEPS can be treated with surgery to close the connection between the hepatic portal vein and the hepatic vein, which would redirect bloodflow through the normal blood vessels within the liver.[1]
Last updated: 2/1/2012

How common is congenital extrahepatic portosystemic shunt (CEPS)?

Congenital extrahepatic portosystemic shunts (CEPS) are quite rare.  A 2003 review article stated that only 61 cases of this condition had been reported in the medical literature.[2]
Last updated: 2/1/2012

  • Alonso-Gamarra E, Parrón M, Pérez A, Prieto C, Hierro L, López-Santamaría M. Clinical and radiologic manifestations of congenital extrahepatic portosystemic shunts: a comprehensive review. Radiographics. 2011; 31:707-722. Accessed 1/27/2012.
  • Murray CP, Yoo SJ, Babyn PS. Congenital extrahepatic portosystemic shunts. Pediatric Radiology. 2003; 33:614-620. Accessed 1/27/2012.