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X-linked Lymphoproliferative Syndrome (XLP)

Synonyms: Duncan disease, Familial fatal Epstein-Barr virus infection, Purtilo Syndrome

This X-linked inherited disorder (thus affecting boys) is characterised by a severe susceptibility to Epstein-Barr virus (EBV) infections.1 Patients develop a severe or fatal infectious mononucleosis, and may go on to develop an acquired hypogammaglobulinaema, red cell aplasia, aplastic anaemia or lymphomatoid granulomatosis; or develop other complications of EBV such as malignant lymphoma.2

Presentation

Patients present in childhood with signs of EBV infection:

  • Respiratory: Pharyngitis, lymphoid granulomatosis of lung
  • Abdomen: Hepatomegaly, fulminant hepatitis and liver failure, splenomegaly
  • Haematological: Atypical mononucleosis (lymphocytosis); thrombocytopenia or pancytopenia (aplastic anaemia), and may develop malignant lymphoma
  • CNS: Meningitis or encephalitis, hepatic encephalopathy.
Management

Bone marrow transplant is the definitive treatment.3,4 Transplantation of cord-blood stem cells from an HLA-identical sibling has also been successful.5

Genetic testing can identify affected individuals and carriers, and antenatal diagnosis is possible.

Prognosis

Without transplant, 70% of patients will not survive beyond 10 years of age.1

Document References
  1. OMIM - X linked Lymphoproliferative Disorder
  2. Purtilo DT, Sakamoto K, Barnabei V, et al; Epstein-Barr virus-induced diseases in boys with the X-linked lymphoproliferative syndrome (XLP): update on studies of the registry. Am J Med. 1982 Jul;73(1):49-56. [abstract]
  3. Pracher E, Panzer-Grumayer ER, Zoubek A, et al; Successful bone marrow transplantation in a boy with X-linked lymphoproliferative syndrome and acute severe infectious mononucleosis. Bone Marrow Transplant. 1994 May;13(5):655-8. [abstract]
  4. Hoffmann T, Heilmann C, Madsen HO, et al; Matched unrelated allogeneic bone marrow transplantation for recurrent malignant lymphoma in a patient with X-linked lymphoproliferative disease (XLP). Bone Marrow Transplant. 1998 Sep;22(6):603-4. [abstract]
  5. Vowels MR, Tang RL, Berdoukas V, et al; Brief report: correction of X-linked lymphoproliferative disease by transplantation of cord-blood stem cells. N Engl J Med. 1993 Nov 25;329(22):1623-5.
Internet and Further Reading Acknowledgements EMIS is grateful to Dr Huw Thomas for writing this article. The final copy has passed scrutiny by the independent Mentor GP reviewing team. ©EMIS 2007.
DocID: 4175
Document Version: 1
DocRef: bgp26044
Last Updated: 22 Feb 2007
Review Date: 21 Feb 2009






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PS - Health and Poverty

Perhaps the biggest cause of ill health in the world is poverty. Help to Make Poverty History. For example, why not lend some of your money to disadvantaged communities to enable them to trade their way out of poverty through schemes such as Shared Interest.

See also MAKEPOVERTYHISTORY North East for details and links to campaigns against poverty.

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