Contribution of anti-cyclic citrullinated peptide and rheumatoid factors for the diagnosis of arthropathy in patients with hereditary hemochromatosis

E Aigner ¹, I Schmid ², C H Österreicher ³, J Zwerina ⁴, G Schett ⁴, M Strasser ⁵, F Niksic ¹, F Hohla ¹, T Ramsauer ⁶, U Dorn ⁶, W Patsch ² and C Datz ^1*

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

^* To whom correspondence should be addressed. E-mail: c.datz{at}kh-obdf.salzburg.at.

Accepted 14 April 2007

Abstract

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

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

Results:Among 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 as well as in 2 (1.2%) healthy controls. Eighteen RA patients (58.1%) displayed anti-CCP reactivity (p<0.001). RFs were detected in 10 (11.5%) patients with HHC compared to 7 healthy control subjects (4.3%, p=0.032) and 21 of 31 (65.6%) RA patients.

Conclusions: Testing for anti-CCP antibodies discriminates HHC-arthropathy from RA, since these patients were consistently anti-CCP negative. Thus, HHC-arthropathy is important to be considered in the differential diagnosis of CCP-negative arthritis.

Keywords: anti-CCP, arthropathy, hemochromatosis, rheumatoid factor

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