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Disease Profile

Post-transplant lymphoproliferative disease

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.
1-5 / 10 000

33,100 - 165,500

US Estimated

1-5 / 10 000

51,350 - 256,750

Europe Estimated

Age of onset

All ages

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ICD-10

D47.9

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)

PTLD; Post-transplant lymphoproliferative disorder

Summary

Post-transplant lymphoproliferative disease (PTLD) is a complication of transplantation in which there is uncontrolled growth of lymphocytes.[1][2] It occurs in people whose immune systems have been intentionally suppressed due to having a solid organ transplant or hematopoietic stem cell transplant.[1] The severity of PTLD can range from causing a mild, noncancerous (benign) overgrowth of tissue, to causing a life-threatening, cancerous (malignant) form of lymphoma.[3] Common signs and symptoms are often vague, such as feeling unwell (malaise), fever, weight loss, night sweats, fatigue, and swollen lymph nodes.[2][3] Additional symptoms depend on the organs or body part(s) affected.[3] The digestive tract, central nervous system, and/or transplanted organ are often involved.[3]

PTLD is often caused by Epstein-Barr virus (EBV), which infects lymphocytes called B-cells. Most people get EBV in childhood, but the virus becomes "inactive" because the immune system keeps it under control. In people with PTLD due to EBV, a weakened immune system may allow EBV to reactivate in infected Bcells, leading to their uncontrolled growth. In some cases, EBV from the transplant donor is reactivated in the recipient. PTLD can also occur if a recipient first becomes infected with EBV after the transplant.[2][3] The reason that PTLD develops in people without EBV is not clear.[1]

PTLD is diagnosed by immunophenotyping a biopsy of an involved lymph node or other affected tissue.[2] Additional tests such as blood tests, imaging tests, or bone marrow biopsy may be needed to determine the location(s) and extent of the disease in the body.[2]

Treatment recommendations may vary among people with PTLD but typically include lowering the dose of immunosuppresive drugs to allow the immune system to fight the EBV-infected cells.[2] There are no therapies approved by the FDA to treat PTLD, but additional treatment options include using rituximab, surgery to remove affected tissue, radiation therapy, immunotherapy, and chemotherapy. Other treatments are being studied in clinical trials.[1][2]

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

    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

    • The Leukemia and Lymphoma Society has an information page on Post-transplant lymphoproliferative disease. Click on the link to view this information page.
    • Lymphoma Action provides information about Post-transplant lymphoproliferative disease.
    • The National Kidney Foundation offers an information page on Post-transplant lymphoproliferative disease.
    • 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.
      • 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.
      • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

        Selected Full-Text Journal Articles

          References

          1. Dierickx D, Habermann TM. Post-Transplantation Lymphoproliferative Disorders in Adults. N Engl J Med. February 8, 2018; 378(6):549-562. https://www.nejm.org/doi/full/10.1056/NEJMra1702693.
          2. Post-Transplant Lymphoproliferative Disorders. Leukemia & Lymphoma Society. July, 2018; https://www.lls.org/sites/default/files/National/USA/Pdf/Publications/FS33_PTLD_2018_FINAL.pdf.
          3. Post-Transplant Lymphoproliferative Disease. National Organization for Rare Disorders (NORD). 2018; https://rarediseases.org/rare-diseases/posttransplant-lymphoproliferative-disorders/.