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Contribution of anti-cyclic citrullinated peptide antibody and rheumatoid factor to the diagnosis of arthropathy in haemochromatosis

¹ Department of Internal Medicine, General Hospital Oberndorf, Teaching Hospital of the Paracelsus Medical University Salzburg, Oberndorf, Austria
² Department of Labaratory Medicine, Paracelsus Medical University Salzburg, Salzburg, Austria
³ Department of Medicine, Columbia University, New York
⁴ Department of Medicine, Paracelsus Medical University Salzburg, Salzburg, Austria
⁵ Department of Orthopedic Surgery, Paracelsus Medical University Salzburg, Salzburg, Austria
⁶ Third Department of Medicine, Medical University of Erlangen, Erlangen, Germany

Correspondence to:
Correspondence to:
Christian Datz
MD, Associate Professor for Internal Medicine, Hospital Oberndorf, Teaching Hospital of the Paracelsus Medical University Salzburg, Paracelsusstrasse 37, 5110 Oberndorf; c.datz{at}kh-obdf.salzburg.at

ABSTRACT
Objective: To investigate the prevalence of antibodies to cyclic citrullinated peptide (anti-CCP) and rheumatoid factor in patients with hereditary haemochromatosis (HHC) and to evaluate their diagnostic reliability in distinguishing HHC-associated arthropathy from rheumatoid arthritis.

Methods: Anti-CCP antibodies and rheumatoid factor levels were determined by ELISA in sera from 87 patients with HHC homozygous for the C282Y mutation of the HFE gene, 31 patients with rheumatoid arthritis and 162 healthy controls.

Results: Of the 87 patients with HHC, 32 (36.8%) had joint involvement. Anti-CCP antibodies were detected in only 1 patient (1.1%) with HHC, who had no joint disease, and in (1.2%) healthy controls. In total, 18 (58.1%) patients with rheumatoid arthritis displayed anti-CCP reactivity (p<0.001). Rheumatoid factor was detected in 10 (11.5%) patients with HHC compared with 7 (4.3%) healthy control subjects (p = 0.03) and 21 of 31 (65.6%) patients with rheumatoid arthritis.

Conclusions: Testing for anti-CCP antibodies discriminates HHC arthropathy from rheumatoid arthritis, as these patients were consistently anti-CCP negative. Thus, HHC arthropathy should be considered in the differential diagnosis of CCP-negative arthritis.

Abbreviations: ACR, American College of Rheumatology; CCP, cyclic citrullinated peptide antibodies; HHC, hereditary haemochromatosis

Keywords: haemochromatosis; arthropathy; anti-CCP; rheumatoid factor