Chronic Epstein-Barr virus infection syndrome

Chronic active Epstein-Barr virus (CAEBV) infection syndrome, also known as chronic EBV infection or chronic active EBV disease, is a rare and potentially life-threatening condition characterized by persistent or recurrent infectious mononucleosis-like symptoms lasting more than three months, with evidence of ongoing EBV infection in the blood and tissues. Unlike typical EBV infection (which causes self-limited mononucleosis in most people), CAEBV involves infiltration of EBV-infected T cells or natural killer (NK) cells into multiple organs, leading to systemic and progressive disease. The condition primarily affects the immune system, liver, spleen, lymph nodes, and bone marrow. Key clinical features include persistent fever, hepatosplenomegaly (enlarged liver and spleen), lymphadenopathy (swollen lymph nodes), liver dysfunction, pancytopenia (low blood cell counts), and progressive immunodeficiency. Serious complications can include hemophagocytic lymphohistiocytosis (HLH), disseminated intravascular coagulation, lymphoma, and multi-organ failure. Some patients develop hydroa vacciniforme-like skin eruptions or severe mosquito bite allergy. The disease is more commonly reported in East Asian populations, particularly in Japan and other parts of Asia, though it occurs worldwide. The underlying cause of CAEBV is thought to involve a defective immune response to EBV rather than an unusually virulent strain of the virus. Some cases have been associated with inherited immune deficiencies, though in many patients no specific genetic defect has been identified. Treatment options are limited and conventional antiviral therapies and immunosuppressive agents generally provide only temporary relief. The only curative treatment currently available is allogeneic hematopoietic stem cell transplantation (HSCT), which aims to replace the patient's immune system with one capable of controlling EBV. Without transplantation, the disease often follows a progressive and fatal course. Early diagnosis and referral to specialized centers are critical for optimal outcomes.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

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