Congenital extrahepatic portosystemic shunt

Información en español Title

Other Names:

CEPS; Abernethy malformation

Categories:

Congenital and Genetic Diseases

Summary Summary

Congenital extrahepatic portosystemic shunt (CEPS) occurs when the blood vessels that go to the liver do not form correctly during fetal development. Toxins, that are normally removed by the liver, build up in the blood stream and can lead to symptoms such as decreased oxygen to the brain (hypoxia) and loss of brain function (hepatic encephalopathy). Symptoms can vary from person to person, and some people with CEPS have no symptoms. There are two types of CEPS. In type 1, the blood vessels going to the liver are missing, resulting in almost no blood flow through the liver. In type 2, blood vessels going to the liver have abnormal connections leading to decreased blood flow to the liver.^[1]

The cause for CEPS is unknown, but it sometimes occurs along with other conditions such as Down syndrome or congenital heart disease. CEPS can be diagnosed by different kinds of imaging studies, including ultrasound and CT scan. Treatment is based on the symptoms, and may include surgery or liver transplant in severe cases. The long-term outlook for people with CEPS depends on the severity of symptoms and the presence of other health conditions.^[1]

Last updated: 3/5/2019

Symptoms Symptoms

The symptoms of congenital extrahepatic portosystemic shunt (CEPS) vary. Some people with this condition do not have any signs or symptoms. Symptoms, when they are present, are caused by a build-up of toxic substances due to blood not moving through the liver. These may include liver disease or loss of normal brain function (hepatic encephalopathy). Other signs and symptoms include pulmonary hypertension and liver nodules.^[1]^[2]

CEPS can occur along with other conditions such as Down syndrome, Goldenhar syndrome, Turner syndrome, congenital heart defects and polysplenia (multiple spleens).^[2]

Last updated: 3/5/2019

Cause Cause

The cause of congenital extrahepatic portosystemic shunts (CEPS) is unknown. Sometimes CEPS occurs along with other conditions such as polysplenia or congenital heart defects.[15303]^[3]

Last updated: 3/5/2019

Inheritance Inheritance

Congenital extrahepatic portosystemic shunt (CEPS) is not known to be inherited in families.

Last updated: 3/5/2019

Diagnosis Diagnosis

Congenital extrahepatic portosystemic shunt (CEPS) is often diagnosed during an ultrasound examination of an infant or child who shows signs of liver disease. In some cases, 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. A contrast CT scan with 3D reconstruction can also be helpful.^[3]^[4]

Last updated: 2/1/2012

Treatment Treatment

Because congenital extrahepatic portosystemic shunts (CEPS) are rare, there are no guidelines for standard treatment of this condition.^[5] 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.^[2]

Last updated: 3/5/2019

Prognosis Prognosis

Congenital extrahepatic portosystemic shunts (CEPS) are very rare and the long-term outlook is unclear. The severity of the symptoms and the presence of other health conditions influence the long-term outlook for this condition.^[4]

Last updated: 3/5/2019

Statistics Statistics

Congenital extrahepatic portosystemic shunts (CEPS) are quite rare. As of 2019, there were only about 300 reported cases in the medical literature; most of them were females under the age of 18.^[4]

Last updated: 3/5/2019

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References References

Gupta P, Sinha A, Sodhi KS, Lal A, Debi U, Thapa BR, Khandelwal N. Congenital extrahepatic portosystemic shunts: Spectrum of findings on ultrasound, computed tomography, and magnetic resonance imaging. Rad Res Pract. Dec 2015; 2015:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4691495/.
Sharma S, Bobhate PR, Sable S, Kumar S, Yadav K, Maheshwari S, Amin S, Chauhan A, Varma V, Kapoor S, Kumaran V. Abernethy malformation: Single-center experience from India and a review of the literature. Ind Jl of Gastroenter. July-Aug, 2018;
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. http://www.ncbi.nlm.nih.gov/pubmed/21571652.
Xie L, Li Y, Jiang X, Zhao J, Xiao T. A 10-year-old boy with dyspnea and hypoxia: Abernathy malformation masquerading as pulmonary arteriovenous fistula. BMC Pediatr. Feb 11, 2019; 19(1):55-60. https://www.ncbi.nlm.nih.gov/pubmed/30744582.
Murray CP, Yoo SJ, Babyn PS. Congenital extrahepatic portosystemic shunts. Pediatric Radiology. 2003; 33:614-620. http://www.ncbi.nlm.nih.gov/pubmed/12879313. Accessed 1/27/2012.