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Ferritinemia and serum inflammatory cytokines in Swedish adults with Gaucher disease type 1
Umeå University, Faculty of Medicine, Department of Radiation Sciences.
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2018 (English)In: Blood Cells, Molecules & Diseases, ISSN 1079-9796, E-ISSN 1096-0961, Vol. 68, p. 35-42Article in journal (Refereed) Published
Abstract [en]

Background: The storage of glucosylceramide in macrophages produces an inflammatory response in Gaucher disease type 1 (GD1) resulting in iron metabolism dysregulation and cytokine release. Patients and methods: The study included 16 adults with GD1 aged 20-86 years. All but one patient carried at least one allele with the c.1226A > G (N370S) mutation in the GBA1 gene. Ferritinemia, iron metabolism profiles including hepcidin, and inflammatory cytokine concentrations were assessed in GD1 patients in Sweden. Results: Hyperferritinemia was present in 81% of patients. There was no correlation between hyperferritinemia and patient's gender, spleen status, or clinical status. Hepcidin was discrepantly low in relation to ferritin levels. TNF-alpha was moderately increased in 5 of 11 patients; 2 patients with the highest TNF-alpha concentrations showed mildly elevated IL-6 levels. The concentrations of IL-1 beta, IL-8, and IL-10 were normal in all patients. Upon treatment, ferritinemia ameliorated but S-ferritin levels did not normalize. The increased TNF-alpha level however, normalized in all treated patients, reaching the lowest values after 2 years of therapy and continued to be stable during the remaining 2 years of follow-up. Conclusions: Hyperferritinemia is a frequent finding in GD1 in Sweden. The relatively low hepcidin levels reveal a distorted relationship between hepcidin and ferritin in GD1. Therapy has the potential to not only ameliorate hyperferritinemia but to also normalize the serum TNF-alpha concentration in GD1. 

Place, publisher, year, edition, pages
ACADEMIC PRESS INC ELSEVIER SCIENCE , 2018. Vol. 68, p. 35-42
Keywords [en]
Gaucher disease, Hyperferritinemia, Cytokines, TNF-alpha, Enzyme replacement therapy, Substrate reduction therapy
National Category
Hematology
Identifiers
URN: urn:nbn:se:umu:diva-143707DOI: 10.1016/j.bcmd.2016.10.010ISI: 000417147400009PubMedID: 27816428OAI: oai:DiVA.org:umu-143707DiVA, id: diva2:1171875
Available from: 2018-01-08 Created: 2018-01-08 Last updated: 2018-06-09Bibliographically approved

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Lorenz, FryderykWahlin, Anders

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