Skip to main content

Advertisement

SpringerLink
Log in

Manifestation of rheumatoid arthritis in a patient with hereditary haemochromatosis

  • Case Report
  • Published:
Rheumatology International Aims and scope Submit manuscript

Abstract

Articular symptoms are frequent manifestations of hereditary haemochromatosis. The clinical signs of the arthropathy of haemochromatosis are not specific and difficult to identify in case of co-incidence of haemochromatosis with Heberden’s and Bouchard’s osteoarthritis or rheumatoid arthritis (RA). Here the manifestation of RA in a patient is reported who was successfully treated for haemochromatosis. Six months after terminating phlebotomy, the patient presented again suffering from impressive swelling of all MCP joints, showing strong synovitis in ultrasound, and from morning stiffness longer than 1 h. ESR, CRP, IgM rheumatoid factor, and anti-cyclic citrullinated peptide antibodies were markedly elevated. Based on these findings the diagnosis of RA was made. Therefore, the high prevalence of RA and haemochromatosis in the general population underlines the usefulness of a screening for HFE gene mutations in RA patients with an atypical course of the disease as well as in patients with undifferentiated arthritis.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1

References

  1. Feder JN, Penny DM, Irrinki A, Lee VK, Lebron JA, Watson N, Tsuchihashi Z, Sigal E, Bjorkman PJ, Schatzman RC (1998) The haemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding. Proc Natl Acad Sci USA 95:1472–1477

    Article  PubMed  CAS  Google Scholar 

  2. Arnett FC, Edworthy SM, Bloch DA, McShane DJ, Fries JF, Cooper NS et al (1988) The American Rheumatism Association 1987 revised criteria for the classification of rheumatoid arthritis. Arthritis Rheum 31:315–324

    Article  PubMed  CAS  Google Scholar 

  3. Lebron JA, Bennett JM, Vaughan DE, Chirino AJ, Snow PM, Mintier GA, Feder JN, Bjorkman PJ (1998) Crystal structure of haemochromatosis protein HFE and characterization of its interaction with transferrin receptor. Cell 93:111–123

    Article  PubMed  CAS  Google Scholar 

  4. Cox TM, Kelly AL (1998) Heamochromatosis: an inherited metal and toxicity syndrome. Curr Opin Genet Develop 8:274–281

    Article  CAS  Google Scholar 

  5. Ramrakhiani S, Bacon BR (1998) Haemochromatosis advances in molecular genetics and clinical diagnosis. J Clin Gastroenterol 27:41–46

    Article  PubMed  CAS  Google Scholar 

  6. Willis G, Scott DGI, Jennings BA, Smith K, Bukhari M, Wimperis JZ (2002) HFE mutations in an inflammatory arthritis population. Rheumatology 41:176–179

    Article  PubMed  CAS  Google Scholar 

  7. Li J, Zhu Y, Singal DP (2000) HFE gene mutations in patients with rheumatoid arthritis. J Rheumatol 27:2074–2077

    PubMed  CAS  Google Scholar 

  8. Porto G, Alves H, Rodrigues P, Cabeda JM, Portal C, Ruivo A, Justica B, Wolff R, De-Sousa M (1998) Major histocompatibility complex class I associations in iron overload: evidence for a new link between the HFE H63D mutation, HLA-A29, and non-classical forms of haemochromatosis. Immunogenetics 47:404–410

    Article  PubMed  CAS  Google Scholar 

  9. Schumacher HR (1964) Haemochromatosis and arthritis. Arthritis Rheum 7:41–50

    Article  PubMed  Google Scholar 

  10. Schumacher HR, Straka PC, Krikker MA, Dudley AT (1988) The arthropathy of haemochromatosis: recent studies. Ann N Y Acad Sci 526:224–234

    Article  PubMed  CAS  Google Scholar 

  11. Dymock IW, Hamilton EBD, Laws JW, Williams R (1970) Arthropathy of haemochromatosis:clinical and radiological analysis of 63 patients with iron overload. Ann Rheum Dis 29:469–475

    Article  PubMed  CAS  Google Scholar 

  12. Faraawi R, Harth M, Keretz A, Bell D (1993) Arthritis in haemochromatosis. J Rheumatol 20:448–452

    PubMed  CAS  Google Scholar 

  13. Hamilton E, Bomford A, Laws J, Williams R (1981) The natural history of arthritis in idiopathic haemochromatosis: progression of the clinical and radiological features over ten years. Q J Med 50:321–329

    PubMed  CAS  Google Scholar 

  14. Adams PC, Speechley M, Kertesz AE (1991) Long-term survival analysis in hereditary haemochromatosis. Gastroenterology 101:368–372

    PubMed  CAS  Google Scholar 

  15. Schedel J, Wimmer A, Friedrich A, Büttner R, Schölmerich J, Müller-Ladner U (2003) Unusual co-incidence of Heberden’s and Bouchard’s osteoarthritis, rheumatoid arthritis, and haemochromatosis. Rheumatol 42:1109–1111

    Article  CAS  Google Scholar 

  16. Lonardo A, Neri P, Mascia MT, Pietrangelo A (2001) Hereditary hemochromatosis masqueading as rheumatoid arthritis. Ann Ital Med Int 16:464–469

    Google Scholar 

  17. Cauza E, Hanusch-Enserer U, Etemad M, Köller M, Kostner K, Georg P, Dunky A, Ferenci P (2005) HFE genotyping demonstrates a significant incidence of haemochromatosis in undifferenciated arthritis. Clin Exp Rheumatol 23:7–12

    PubMed  CAS  Google Scholar 

  18. Connolly KM, Stecher VJ, Danis E, Pruden DJ, LaBrie T (1988) Alteration of interleukin-1 production and acute phase response following medication of adjuvant arthritis with cyclosporine A or methotrexate. Int J Immunopharmacol 10:717–728

    Article  PubMed  CAS  Google Scholar 

Download references

Acknowledgments

Dirk Wernicke’s work was supported by the European Social Funds for Berlin-Brandenburg area (No. 20010019 and 20030005).

Author information

Authors and Affiliations

  1. Medical Center for Rheumatology Berlin-Buch, Karower Str. 11, 13 125, Berlin, Germany

    Dirk Wernicke, Eva Seipelt, Wolfgang A. Schmidt & Erika Gromnica-Ihle

Authors
  1. Dirk Wernicke
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Eva Seipelt
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Wolfgang A. Schmidt
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Erika Gromnica-Ihle
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Dirk Wernicke.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Wernicke, D., Seipelt, E., Schmidt, W.A. et al. Manifestation of rheumatoid arthritis in a patient with hereditary haemochromatosis. Rheumatol Int 26, 939–941 (2006). https://doi.org/10.1007/s00296-006-0113-8

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00296-006-0113-8

Keywords

Search

Navigation