Time-course analysis of serum hepcidin, iron and cytokines in a C282Y homozygous patient with Schnitzler's syndrome treated with IL-1 receptor antagonist

• Published in: Haematologica (Roma) Vol. 94; no. 9; pp. 1297 - 1300
• Main Authors: van Deuren, Marcel, Kroot, Joyce J. C, Swinkels, Dorine W
• Format: Journal Article
• Language: English
• Published: Pavia Ferrata Storti Foundation 01.09.2009
• Subjects: Allergic diseases; Antimicrobial Cationic Peptides - blood; Antimicrobial Cationic Peptides - genetics; Antirheumatic Agents - administration & dosage; Biological and medical sciences; Brief Reports; Hematologic and hematopoietic diseases; Hemochromatosis - blood; Hemochromatosis - drug therapy; Hemochromatosis - genetics; Hemochromatosis Protein; Hepcidins; Histocompatibility Antigens Class I - blood; Histocompatibility Antigens Class I - genetics; Homozygote; Humans; Immunopathology; Interleukin 1 Receptor Antagonist Protein - administration & dosage; Interleukin-6 - blood; Iron - blood; Male; Medical sciences; Membrane Proteins - blood; Membrane Proteins - genetics; Middle Aged; Mutation, Missense; Schnitzler Syndrome - blood; Schnitzler Syndrome - drug therapy; Schnitzler Syndrome - genetics; Skin allergic diseases. Stinging insect allergies; Time Factors; Human; Iron overload; Immunopathology; Skin disease; Hemochromatosis; interleukin-1; Hematology; Urticaria; Interleukin 1 receptor antagonist; Cytokine; Metabolic diseases; Iron; Inflammation; Schnitzler syndrome; Homozygosity; Enzymopathy; Inflammatory disease; Treatment; Interleukin 1; Serum; Time analysis; Hepcidin
• ISSN: 0390-6078; 1592-8721
• DOI: 10.3324/haematol.2009.005975

1 Department of General Internal Medicine 2 Department of Clinical Chemistry, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands Correspondence: Dorine W. Swinkels, MD, PhD, Department of Clinical Chemistry, 441 Radboud University, Nijmegen Medical Center, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands. E-mail: d.swinkels{at}akc.umcn.nl It is currently unknown if the increase of the hepatic iron regulatory hormone hepcidin during inflammation in man depends on an intact HFE-protein. Here we describe the temporal relationship of serum hepcidin, serum iron and cytokines in a patient with HFE-related (C282Y homozygous) hereditary hemochromatosis who was treated for an auto-inflammatory condition, i.e. variant Schnitzler’s syndrome, with the potent anti-inflammatory cytokine inter-leukin-1 receptor antagonist (IL-1ra, anakinra). The patient had bouts of fever with peaking serum IL-6 concentrations followed by peaking serum hepcidin levels, while serum iron was low. Upon treatment, these peaks disappeared and hepcidin levels became non-detectable, consistent with HFE deficiency. In conclusion, this in vivo human model: i) supports the importance of an HFE-independent IL-6-hepcidin axis in the development of hypoferremia and anemia of inflammation; and ii) suggests that chronic inflammation protects patients with HFE-related hereditary hemochromatosis from iron accumulation. Key words: hepcidin, iron, hemochromatosis, inflammation, interleukin-1. Related Article Genetic variation in hepcidin expression and its implications for phenotypic differences in iron metabolism Henry K. Bayele, Surjit Kaila S. Srai Haematologica 2009 94: 1185-1188. [Full Text] [PDF]