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Disease Profile

Congenital extrahepatic portosystemic shunt

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

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Age of onset

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ICD-10

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Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

CEPS; Abernethy malformation

Categories

Congenital and Genetic Diseases

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]

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]

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]

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]

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]

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • PubMed is a searchable database of medical literature and lists journal articles that discuss Congenital extrahepatic portosystemic shunt. Click on the link to view a sample search on this topic.

References

  1. 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/.
  2. 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;
  3. 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. https://www.ncbi.nlm.nih.gov/pubmed/21571652.
  4. 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.
  5. Murray CP, Yoo SJ, Babyn PS. Congenital extrahepatic portosystemic shunts. Pediatric Radiology. 2003; 33:614-620. https://www.ncbi.nlm.nih.gov/pubmed/12879313. Accessed 1/27/2012.

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