Rare Pediatrics News

Disease Profile

Budd-Chiari syndrome

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.

1-9 / 100 000

US Estimated

Europe Estimated

Age of onset

All ages

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ICD-10

I82.0

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)

Membranous obstruction of the inferior vena cava

Categories

Digestive Diseases; Heart Diseases

Summary

Budd-Chiari syndrome is a rare disorder characterized by obstruction of the veins of the liver that carry the blood flow from the liver.[1][2] When the blood flow out of the liver is impeded, blood backs up in the liver, causing it to enlarge (hepatomegaly). The spleen may also enlarge (splenomegaly). This backup of blood increases blood pressure in the portal vein, which carries blood to the liver from the intestines (portal hypertension), and result in dilated, twisted veins in the esophagus (esophageal varices). Portal hypertension, leads to fluid accumulating in the abdomen (called ascites). The clot may extend to also block the inferior vena cava (the large vein that carries blood from the lower parts of the body to the heart). Varicose veins in the abdomen near the skin’s surface may develop and become visible. In some cases,  scarring of the liver (cirrhosis) occurs. Other symptoms may include fatigue, abdominal pain, nausea, jaundice and bleeding in the esophagus.[1][3] The severity of the disorder varies from case to case, depending on the site and number of affected veins.[1] It most often occurs in patients which have a disorder that makes blood more likely to clot, such as those who are pregnant or who have a tumor, a chronic inflammatory disease, a clotting disorder, an infection, or a myeloproliferative disorder. In about one third of the cases, the cause of Budd-Chiari syndrome is unknown. Drugs or surgical interventions may be used to dissolve or decrease the size of the obstruction (if it is a clot). In some cases liver transplantation is needed.[3][2] 
Budd-Chiari syndrome should be considered separate from veno-occlusive disease (VOD).[2]

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Ascites
Accumulation of fluid in the abdomen
0001541
Portal hypertension
0001409
Splenomegaly
Increased spleen size
0001744
30%-79% of people have these symptoms
Abdominal pain
Pain in stomach
Stomach pain

[ more ]

 0002027
Cirrhosis
Scar tissue replaces healthy tissue in the liver
0001394
Elevated hepatic transaminase
High liver enzymes
0002910
Esophageal varix
Enlarged vein in esophagus
0002040
Fever
0001945
Hepatomegaly
Enlarged liver
0002240
5%-29% of people have these symptoms
Acute hepatic failure
Acute liver failure
0006554
Cholecystitis
Gallbladder inflammation
0001082
Gastrointestinal hemorrhage
Gastrointestinal bleeding
0002239
Gastrointestinal infarctions
Death of digestive organ tissue due to poor blood supply
0005244
Intestinal obstruction
Bowel obstruction
Intestinal blockage

[ more ]

 0005214
Jaundice
Yellow skin
Yellowing of the skin

[ more ]

 0000952
Malabsorption
Intestinal malabsorption
0002024
Peritonitis
0002586
Weight loss
0001824
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance
0000007
Budd-Chiari syndrome
0002639
Hepatocellular carcinoma
0001402
Do you have updated information on this disease? We want to hear from you.

Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

    Treatment

    The treatment of Budd-Chiari syndrome varies, depending on the cause of the blockage. Medical treatments may include:[4]

    • Blood-thinning (anticoagulation) medications
    • Clot-busting drugs (thrombolytic treatment)
    • Treatment for the liver disease, including ascites

    Surgical treatments may also be considered and include:[4]

    • Angioplasty and stent placement
    • Transjugular intrahepatic portosystemic shunt (TIPS)
    • Venous shunt surgery

    While medical therapy can be instituted for short-term, symptomatic benefit, medical therapy alone has been associated with a high 2-year mortality rate (80-85%).[5]

    In cases of severe cirrhosis liver transplant may be needed.[5] You can view more detailed information regarding the medical and surgical options for treatment of Budd-Chiari syndrome by visiting the Medscape Reference website on Budd-Chiari syndrome treatment & managment. You may need to register to view the article, but registration is free.

    Organizations

    Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

    Organizations Supporting this Disease

      Organizations Providing General Support

        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.

        Where to Start

        • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
        • The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers.
        • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

          In-Depth Information

          • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
          • MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
          • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
          • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
          • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
          • PubMed is a searchable database of medical literature and lists journal articles that discuss Budd-Chiari syndrome. Click on the link to view a sample search on this topic.

            References

            1. Budd Chiari Syndrome. National Organization for Rare Disorders (NORD). 2007; https://rarediseases.org/rare-diseases/budd-chiari-syndrome/.
            2. Roy PK, Choudhary A, Shojamanesh H, Bragg J, Dehadrai G & Bashir S. Budd-Chiari Syndrome. Medscape Reference. December 16, 2015; https://emedicine.medscape.com/article/184430-overview.
            3. Shaffer EA. Budd-Chiari Syndrome. Merck Online Medical Library. 2016; https://www.merck.com/mmhe/sec10/ch138/ch138d.html.
            4. Hepatic vein obstruction (Budd-Chiari). MedlinePlus. 2014; https://www.nlm.nih.gov/medlineplus/ency/article/000239.htm.
            5. Roy PK, Choudhary A, Shojamanesh H, Bragg J, Dehadrai G, Bashir S. Budd-Chiari Syndrome: Treatment & Medication. Medscape Reference. 2015; https://emedicine.medscape.com/article/184430-treatment.

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