Arthritis & Rheumatism, Volume 62,
November 2010 Abstract Supplement

Abstracts of the American College of
Rheumatology/Association of Rheumatology Health Professionals
Annual Scientific Meeting
Atlanta, Georgia November 6-11, 2010.


High Prevalence of Axial Spondyloarthritis in Patients with Familial Mediteranean Fever, and a Greater Allelic Frequency of M694V in Familial Mediteranean Fever Patients with Radiograpic Sacroiliitis.

Akar2,  Servet, Soysal2,  Ozgul, Yuksel1,  Feride, Solmaz2,  Dilek, Can2,  Gercek, Birlik2,  Merih, Tunca1,  Mehmet

Internal Medicine, Dokuz Eylul University Faculty of Medicine, Izmir, Turkey
Rheumatology, Dokuz Eylul University Faculty of Medicine, Izmir, Turkey

Background:

Familial Mediterranean fever (FMF) is an autoinflammatory disease characterized by recurrent attacks of fever and serositis. Limited data suggest that the prevalence of sacroiliitis, which is a hallmark of ankylosing spondylitis (AS), is increased in patients with FMF. Moreover in most recent studies we and other groups have found a significantly higher frequency of M694V in AS patients. Therefore in the present study we assessed the prevalence of axial spondyloarthritis (SpA), including AS, in FMF patients. We also studied the presence of MEFV variants in FMF patients with and without radiographic sacroiliitis.

Patients and Methods:

The first 258 patients with FMF [130 female (%50,4), mean age 38,9 ± 12] who were invited to the outpatient clinic for another study were interviewed by using a structured questionnaire to capture patients with SpA. Presence of inflammatory back pain (IBP) was judged based on both Calin and Berlin criteria and the diagnosis of AS was based on the modified New York (mNY) criteria. Standard pelvic X-rays of the sacroiliac joints (SIJ) were performed in all patients. Patients with IBP were also assessed by magnetic resonance imaging (MRI) of SIJ and HLA B27 testing. MEFV variants of the patients were extracted from the patients' medical charts.

Results:

Two hundred FMF patients (108 female; 54%) patients (77,5%) reported to have current and/or past back pain. IBP according to Calin and Berlin criteria were present in 53 patients (26,5%) and 42 patients (21%), respectively. One patient had inflammatory bowel disease and one had psoriasis, and 56 (21,8%) had a positive family history for SpA. A total of 15 patients (5,8%) had radiographic sacroiliitis (bilateral grade 2 or unilateral grade 3–4) and 14 of them fulfilled the mNY criteria for AS. Additionally bone marrow edema was detected by MRI of SIJ in 13 patients with IBP (5.0%). HLA-B27 positivity was found in only one of the 12 patients with sacroiliitis on MRI and in none of the 14 patients with radiographic sacroiliitis. Allele frequency of M694V in FMF patients with radiographic sacroiliitis was significantly higher in comparison to those without sacroiliitis (67,9% vs 43,7%; p=0,017) with an OR of 2,7 (95% CI= 1,2 to 6,2).

Age, years, mean ± SD41,1 ± 11,5
Female, n (%)9 (60)
Age at onset of FMF; years, mean ± SD12,4 ± 5,2
Age at onset of back pain; years, mean ± SD31,6 ± 11,6
BASDAI, mean ± SD3,5 ± 2,3
BASFI, mean ± SD2,0 ± 1,8
Presence of syndesmophyte, n (%)3/14 (21)
HLA-B27 positivity, n (%)0 (0)
M694V positivity, n (%)12 (85)*
*Based on 14 unrelated cases.

Conclusion:

Our results suggest that axial SpA in patients with FMF and SpA is more common than in the general population. Moreover, M694V may be playing a bigger role than HLA-B27 in susceptibility to AS in FMF patients.

To cite this abstract, please use the following information:
Akar, Servet, Soysal, Ozgul, Yuksel, Feride, Solmaz, Dilek, Can, Gercek, Birlik, Merih, et al; High Prevalence of Axial Spondyloarthritis in Patients with Familial Mediteranean Fever, and a Greater Allelic Frequency of M694V in Familial Mediteranean Fever Patients with Radiograpic Sacroiliitis. [abstract]. Arthritis Rheum 2010;62 Suppl 10 :666
DOI: 10.1002/art.28434

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