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Rheumatology Advance Access originally published online on March 1, 2005
Rheumatology 2005 44(5):662-665; doi:10.1093/rheumatology/keh577
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© The Author 2005. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved. For Permissions, please email: journals.permissions@oupjournals.org

Study of undifferentiated spondyloarthropathy among first-degree relatives of ankylosing spondylitis probands

C. T. Chou1, K. C. Lin2, J. C. C. Wei3, W. C. Tsai4, H. H. Ho5, C. M. Hwang6, J. M. Cherng7, C. M. Hsu8 and D. T. Y. Yu9

1 Veterans General Hospital and 2 National Taipei College of Nursing, Taipei, 3 Chung Shan Medical University, Taichung, 4 Kaohsiung Medical University Hospital, Kaohsiung, 5 Chang Gung Memorial Hospital, Lin-Ko, 6 China Medical College Hospital, Taichung, 7 Buddhist Tzu Chi General Hospital, Hualien, 8 Ping-Tung Christian Hospital, Ping-Tung, Taiwan and 9 University of California, Los Angeles, CA, USA.

Correspondence to: C. T. Chou, Division of Allergy-Immunology-Rheumatology, Veterans General Hospital-Taipei, No. 201, Sec. 2, Shipai Road, Beitou Chiu, Taipei, Taiwan 112. E-mail: ctchou{at}vghtpe.gov.tw

Objective. To estimate in a Chinese population the prevalence of undifferentiated spondyloarthropathy (USpA) among first-degree relatives (FDRs) of ankylosing spondylitis (AS) probands, and to compare the clinical features of familial USpA with those of sporadic USpA.

Methods. The FDRs of two separate cohorts of consecutive AS probands were evaluated for the prevalence of USpA, using the Modified New York criteria and the European Spondylitis Study Group criteria for AS and SpA, respectively. Sporadic USpA and FDRs of non-SpA rheumatic patient probands served as separate controls.

Results. Among the 301 FDRs of 102 AS probands, 7.0% were USpA. This was 1000 times higher than the 147 FDRs of 40 non-SpA probands (P = 0.00230). Within the AS families, USpA was less male-dominated than AS (33.3 vs 72.5%) (P = 0.006). The only feature distinguishing familial from sporadic USpA was that the percentages of HLA B27 were 100 and 50%, respectively (P<0.001).

Conclusion. USpA and AS coexist in the same Chinese families, both being predisposed by HLA B27. In these families, a female gender favours the development of USpA rather than AS. A significant subset of sporadic USpA (HLA B27-negative group) has a different genetic predisposition compared with familial USpA.

KEY WORDS: Undifferentiated spondyloarthropathy, Ankylosing spondylitis, First-degree relatives, HLA B27


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