Findings in familial haemophagocytic lymphohistiocytosis prior to symptomatic presentation

2.50
Hdl Handle:
http://hdl.handle.net/2336/31512
Title:
Findings in familial haemophagocytic lymphohistiocytosis prior to symptomatic presentation
Authors:
Hafsteinsdottir, S; Jonmundsson, G K; Kristinsson; Winiarski, J; Henter, J I; Haraldsson, A
Citation:
Acta Paediatr. 2002, 91(8):974-7
Issue Date:
10-Jul-2002
Abstract:
Familial haemophagocytic lymphohistiocytosis (FHL) is a rare, autosomal recessive disease of infancy and early childhood clinically characterized by fever, hepatosplenomegaly, lymphadenopathy, rash, neurological symptoms and icterus. Common laboratory findings include cytopenia, elevated liver enzymes, hyperbiliriubinaemia, hypofibrinogenaemia and hypertriglyceridaemia. The natural killer cell function is frequently decreased or absent. A diffuse lymphohistiocytic infiltration is seen in the reticuloendothelial system, often with haemophagocytosis. Molecular diagnosis is available in a minority of FHL families. Without adequate treatment and bone-marrow transplantation, the disease is fatal. A 6-wk-old child with FHL is presented. Shortly before the clinical onset of the disease, blood testing and bone-marrow examination had been carried out. All results were considered normal at that time. Conclusion: Blood tests and bone-marrow examination may be normal shortly before the clinical presentation and therefore do not exclude the diagnosis of FHL. There is a need for extended molecular diagnostic possibilities.
Description:
To access publisher full text version of this article. Please click on the hyperlink in Additional Links field
Additional Links:
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Full metadata record

DC FieldValue Language
dc.contributor.authorHafsteinsdottir, S-
dc.contributor.authorJonmundsson, G K-
dc.contributor.authorKristinsson-
dc.contributor.authorWiniarski, J-
dc.contributor.authorHenter, J I-
dc.contributor.authorHaraldsson, A-
dc.date.accessioned2008-07-10T10:51:44Z-
dc.date.available2008-07-10T10:51:44Z-
dc.date.issued2002-07-10-
dc.date.submitted2008-07-10-
dc.identifier.citationActa Paediatr. 2002, 91(8):974-7en
dc.identifier.issn0803-5253-
dc.identifier.pmid12222725-
dc.identifier.urihttp://hdl.handle.net/2336/31512-
dc.descriptionTo access publisher full text version of this article. Please click on the hyperlink in Additional Links fielden
dc.description.abstractFamilial haemophagocytic lymphohistiocytosis (FHL) is a rare, autosomal recessive disease of infancy and early childhood clinically characterized by fever, hepatosplenomegaly, lymphadenopathy, rash, neurological symptoms and icterus. Common laboratory findings include cytopenia, elevated liver enzymes, hyperbiliriubinaemia, hypofibrinogenaemia and hypertriglyceridaemia. The natural killer cell function is frequently decreased or absent. A diffuse lymphohistiocytic infiltration is seen in the reticuloendothelial system, often with haemophagocytosis. Molecular diagnosis is available in a minority of FHL families. Without adequate treatment and bone-marrow transplantation, the disease is fatal. A 6-wk-old child with FHL is presented. Shortly before the clinical onset of the disease, blood testing and bone-marrow examination had been carried out. All results were considered normal at that time. Conclusion: Blood tests and bone-marrow examination may be normal shortly before the clinical presentation and therefore do not exclude the diagnosis of FHL. There is a need for extended molecular diagnostic possibilities.en
dc.language.isoenen
dc.publisherTaylor & Francisen
dc.relation.urlhttp://search.ebscohost.com/login.aspx?direct=true&db=aph&AN=7048863&site=ehost-liveen
dc.subject.meshBone Marrow Examinationen
dc.subject.meshGenetic Screeningen
dc.subject.meshHematologic Testsen
dc.subject.meshHistiocytosis, Non-Langerhans-Cellen
dc.subject.meshHumansen
dc.subject.meshInfanten
dc.subject.meshMaleen
dc.subject.meshReproducibility of Resultsen
dc.titleFindings in familial haemophagocytic lymphohistiocytosis prior to symptomatic presentationen
dc.typeArticleen
dc.contributor.departmentChildren's Hospital, Reykjavík, Iceland.en
dc.identifier.journalActa paediatrica (Oslo, Norway : 1992)en

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