X-linked lymphoproliferative syndrome
Peer reviewed by Patient clinician teamLast updated by Dr Hayley Willacy, FRCGP Last updated 22 Jun 2011
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Synonyms: XLP, Duncan's disease, familial fatal Epstein-Barr virus infection, Purtilo's syndrome
This X-linked inherited disorder (thus affecting boys) resulting from a defective gene at Xq25 is characterised by a severe susceptibility to Epstein-Barr virus (EBV) infections.1
Following exposure, 75% of patients develop a severe or fatal infectious mononucleosis. Survivors may go on to develop an acquired hypogammaglobulinaema, red cell aplasia, aplastic anaemia or lymphomatoid granulomatosis.23
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Presentación
Patients present in childhood (mean age 3-5 years) 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 bone marrow failure.
CNS: meningitis or encephalitis, hepatic encephalopathy.
Gestión
Bone marrow transplant is the definitive treatment.45 Transplantation of cord-blood stem cells from an HLA-identical sibling has also been successful.6
There is research into the use of anti-CD20 rituximab (monoclonal antibody) in the acute phase of EBV infection which shows promise, and cytotoxic chemotherapy may also have a role.2
Genetic testing can identify affected individuals and carriers, and antenatal diagnosis is possible.
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Complicaciones
EBV infection can result in hepatic necrosis or bone marrow failure.
Later complications include hypogammaglobulinaemia, malignant lymphoma, aplastic anaemia or haemophagocytic syndrome.
Pronóstico
Without transplant, 70% of patients will not survive beyond 10 years of age.1
Lecturas complementarias y referencias
- Arkwright PD, Makin G, Will AM, et al; X linked lymphoproliferative disease in a United Kingdom family. Arch Dis Child. 1998 Jul;79(1):52-5.
- X-linked Lymphoproliferative Disorder, Online Mendelian Inheritance in Man (OMIM)
- Seiter K et al; Lymphoproliferative Syndrome, X-linked, Medscape, Mar 2011
- 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.
- 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.
- 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.
- 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.
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Historia del artículo
La información de esta página ha sido redactada y revisada por médicos cualificados.
22 Jun 2011 | Latest version
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