Disease Profile

Chronic active Epstein-Barr virus infection

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.

Unknown

Age of Onset

Childhood

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ICD-10

B27.0

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)

CEBV; CAEBV infection; Chronic active Epstein-Barr disease

Categories

Viral infections

Summary

Chronic active Epstein-Barr virus infection (CAEBV) is a very rare complication of an Epstein Barr virus (EBV) infection. Symptoms of CAEBV may include fever, swollen lymph nodes, and an enlarged liver and/or spleen. More serious complications may include anemia, nerve damage, liver failure, and/or interstitial pneumonia. Symptoms may be constant or come and go, and tend to get worse over time. CAEBV occurs when the virus remains ‘active’ and the symptoms of an EBV infection do not go away. It is diagnosed based on the symptoms, clinical exam, and blood tests that show EBV DNA remaining at high levels for at least 3 months. Treatment is focused on managing the symptoms. The most well-documented, effective treatment for CAEBV is hematopoietic stem cell transplantation.[1][2][3]

Some people with fatigue alone are mistakenly thought to have CAEBV. Very specific testing looking for the level of EBV DNA is necessary to diagnose CAEBV.[3]

Symptoms

The following list includes the most common signs and symptoms in people with chronic active Epstein-Barr virus infection (CAEBV). These features may be different from person to person. Some people may have more symptoms than others and symptoms can range from mild to severe. This list does not include every symptom or feature that has been described in this condition.[1][2][3]

Signs and symptoms include:

  • Fever
  • Swollen lymph nodes
  • Enlarged liver (hepatomegaly)
  • Enlarged spleen (splenomegaly)
  • Anemia 
  • Nerve damage
  • Liver failure
  • Pneumonia

About 95% of people become infected by Epstein-Barr virus (EBV) sometime in their life and most never have any health problems.[1] Some people with EBV will develop infectious mononucleosis or other illnesses, and will recover with no other problems.[4][5] Only rarely will an EBV infection develop into CAEBV. Over time, CAEBV can lead to failure of the immune system which, if not treated, can lead to potentially life-threatening complications.[3]

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
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance
0000007
Bronchiectasis
Permanent enlargement of the airways of the lungs
0002110
Fever
0001945
Immunodeficiency
Decreased immune function
0002721
Pneumonia
0002090
Recurrent respiratory infections
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections

[ more ]

0002205
Sinusitis
Sinus inflammation
0000246
Splenomegaly
Increased spleen size
0001744

Cause

Chronic active Epstein-Barr virus infection (CAEBV) is a rare complication of having Epstein-Barr virus (EBV). About 95% of people become infected with the EBV by adulthood and many will have no symptoms. CAEBV occurs when an EBV infection doesn't go away and the virus remains "active". This allows the symptoms of an EBV infection to persist and get worse over time.[1][3][4] It is not known why some people develop CAEBV and others do not.

Diagnosis

Chronic active Epstein-Barr virus infection (CAEBV) is diagnosed based on the symptoms, a clinical exam and high EBV DNA in the blood which persists for at least 3 months. A test known as a quantitative PCR test is used to measure the amount of EBV DNA.[3]

Treatment

Treatment for chronic active Epstein-Barr virus infection (CAEBV) includes medication to help manage the symptoms. Hematopoietic stem-cell transplant is currently the only curative treatment for this condition.[6]

Specialists involved in the care of someone with CAEBV may include:

  • Infectious disease specialist
  • Immunologist
  • Hematologist

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

  • You can obtain information on this topic from the Centers for Disease Control and Prevention (CDC). The CDC is recognized as the lead federal agency for developing and applying disease prevention and control, environmental health, and health promotion and education activities designed to improve the health of the people of the United States.

In-Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • 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. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Chronic active Epstein-Barr virus infection. Click on the link to view a sample search on this topic.

References

  1. Cohen JI, Jaffe ES, Dale JK, et al. Characterization and treatment of chronic active Epstein-Barr virus disease: a 28-year experience in the United States. Blood. June 2, 2011; 117(22):5835-49. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3112034/.
  2. Aronson MD, Auwaerter PG. Infectious mononucleosis. UpToDate. Waltham, MA: UpToDate; Updated May 28, 2019; https://www.uptodate.com/contents/infectious-mononucleosis.
  3. Kimura H, Cohen JI. Chronic Active Epstein-Barr Virus Disease. Front Immunol. December 22, 2017; 8:1867:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5770746/.
  4. About Epstein-Barr Virus (EBV). Centers of Disease Control and Prevention (CDC). 2015; https://www.cdc.gov/epstein-barr/about-ebv.html.
  5. Loebel M, Eckey M, Sotzny F et al. Serological profiling of the EBV immune response in Chronic Fatigue Syndrome using a peptide microarray. PLoS ONE. 12(6):e0179124. https://doi.org/10.1371/journal.pone.0179124.
  6. Bollard CM, Cohen JL. How I treat T-cell chronic active Epstein-Barr virus disease. Blood. Jun 28, 2018; 131(26):2899-2905. https://www.ncbi.nlm.nih.gov/pubmed/29712633.
  7. Sullivan JL. Clinical manifestations and treatment of Epstein-Barr virus infection. UpToDate. Updated May 20, 2019; https://www.uptodate.com/contents/clinical-manifestations-and-treatment-of-epstein-barr-virus-infection.