Skip to main content
Top
Published in: Arthritis Research & Therapy 1/2017

Open Access 01-12-2017 | Research article

Is the current ASAS expert definition of a positive family history useful in identifying axial spondyloarthritis? Results from the SPACE and DESIR cohorts

Authors: Zineb Ez-Zaitouni, Andrea Hilkens, Laure Gossec, Inger Jorid Berg, Robert Landewé, Roberta Ramonda, Maxime Dougados, Désirée van der Heijde, Floris van Gaalen

Published in: Arthritis Research & Therapy | Issue 1/2017

Login to get access

Abstract

Background

The Assessment of SpondyloArthritis international Society (ASAS) definition of a positive family history (PFH) of spondyloarthritis (SpA) includes the following diseases in first- or second-degree relatives: ankylosing spondylitis (AS), acute anterior uveitis (AAU), reactive arthritis (ReA), inflammatory bowel disease (IBD), and psoriasis. However, it is not known if a PFH for each of these diseases contributes to making a diagnosis of axSpA, sacroiliitis on imaging, or fulfilling the ASAS criteria in patients presenting with chronic back pain (CBP). Therefore, the aim of this study was to assess which SpA diseases in family members are associated with human leukocyte antigen B27 (HLA-B27) and axial spondyloarthritis (axSpA) in CBP patients.

Methods

CBP patients suspected of axSpA from the SPACE (n = 438) and the DESIR (n = 647) cohort were asked about the presence of SpA diseases in first- or second-degree relatives (AS, AAU, ReA, IBD, and psoriasis). The associations between a PFH and HLA-B27, sacroiliitis on imaging (magnetic resonance imaging (MRI) or radiographs), axSpA diagnosis, and ASAS classification in CBP patients were assessed.

Results

In the SPACE and the DESIR cohort, a PFH of AS (odds ratio (OR) 5.9 (95% confidence interval (CI) 3.5–9.9), and OR 3.3 (95% CI 2.1–5.2)) and a PFH of AAU (OR 9.8 (95% CI 3.3–28.9) and OR 21.6 (95% CI 2.9–160.1)) were significantly associated with presence of HLA-B27. Furthermore, in both cohorts a PFH of AS and a PFH of AAU were positively associated with fulfilment of the ASAS criteria, but not with sacroiliitis on imaging. In SPACE but not in DESIR a PFH of AAU was positively associated with axSpA diagnosis. In both cohorts a PFH of ReA, IBD, or psoriasis was not positively associated with HLA-B27 positivity, sacroiliitis on imaging, axSpA diagnosis, or meeting the ASAS criteria for axSpA.

Conclusions

In our cohorts, a PFH of AS or AAU is useful for case-finding of axSpA as this is correlated with HLA-B27 carriership. However, as a PFH of ReA, IBD, or psoriasis does not contribute to identifying axSpA in CBP patients, these data suggest that the widely used ASAS definition of a PFH of SpA should be updated.

Trial registration

Trial registration number, NCT01648907. Registered on 20 July 2012.
Appendix
Available only for authorised users
Literature
1.
go back to reference Schlosstein L, Terasaki PI, Bluestone R, Pearson CM. High association of an HL-A antigen, W27, with ankylosing spondylitis. N Engl J Med. 1973;288(14):704–6.CrossRefPubMed Schlosstein L, Terasaki PI, Bluestone R, Pearson CM. High association of an HL-A antigen, W27, with ankylosing spondylitis. N Engl J Med. 1973;288(14):704–6.CrossRefPubMed
2.
go back to reference Bedendo A, Glorioso S, Pasini CV, Fabiano F, Casara D, Cavallo A, Todesco S. A family study of ankylosing spondylitis. Rheumatol Int. 1984;5(1):29–32.CrossRefPubMed Bedendo A, Glorioso S, Pasini CV, Fabiano F, Casara D, Cavallo A, Todesco S. A family study of ankylosing spondylitis. Rheumatol Int. 1984;5(1):29–32.CrossRefPubMed
3.
go back to reference van der Linden SM, Valkenburg HA, de Jongh BM, Cats A. The risk of developing ankylosing spondylitis in HLA-B27 positive individuals. A comparison of relatives of spondylitis patients with the general population. Arthritis Rheum. 1984;27(3):241–9.CrossRefPubMed van der Linden SM, Valkenburg HA, de Jongh BM, Cats A. The risk of developing ankylosing spondylitis in HLA-B27 positive individuals. A comparison of relatives of spondylitis patients with the general population. Arthritis Rheum. 1984;27(3):241–9.CrossRefPubMed
4.
go back to reference Said-Nahal R, Miceli-Richard C, Berthelot JM, Duche A, Dernis-Labous E, Le Blevec G, Saraux A, Perdriger A, Guis S, Claudepierre P, et al. The familial form of spondylarthropathy: a clinical study of 115 multiplex families. Groupe Francais d’Etude Genetique des Spondylarthropathies. Arthritis Rheum. 2000;43(6):1356–65.CrossRefPubMed Said-Nahal R, Miceli-Richard C, Berthelot JM, Duche A, Dernis-Labous E, Le Blevec G, Saraux A, Perdriger A, Guis S, Claudepierre P, et al. The familial form of spondylarthropathy: a clinical study of 115 multiplex families. Groupe Francais d’Etude Genetique des Spondylarthropathies. Arthritis Rheum. 2000;43(6):1356–65.CrossRefPubMed
5.
go back to reference Brown MA, Kennedy LG, MacGregor AJ, Darke C, Duncan E, Shatford JL, Taylor A, Calin A, Wordsworth P. Susceptibility to ankylosing spondylitis in twins: the role of genes, HLA, and the environment. Arthritis Rheum. 1997;40(10):1823–8.CrossRefPubMed Brown MA, Kennedy LG, MacGregor AJ, Darke C, Duncan E, Shatford JL, Taylor A, Calin A, Wordsworth P. Susceptibility to ankylosing spondylitis in twins: the role of genes, HLA, and the environment. Arthritis Rheum. 1997;40(10):1823–8.CrossRefPubMed
6.
go back to reference Amor B, Dougados M, Mijiyawa M. Criteria of the classification of spondylarthropathies. Rev Rhum Mal Osteoartic. 1990;57(2):85–9.PubMed Amor B, Dougados M, Mijiyawa M. Criteria of the classification of spondylarthropathies. Rev Rhum Mal Osteoartic. 1990;57(2):85–9.PubMed
7.
go back to reference Dougados M, van der Linden S, Juhlin R, Huitfeldt B, Amor B, Calin A, Cats A, Dijkmans B, Olivieri I, Pasero G, et al. The European Spondylarthropathy Study Group preliminary criteria for the classification of spondylarthropathy. Arthritis Rheum. 1991;34(10):1218–27.CrossRefPubMed Dougados M, van der Linden S, Juhlin R, Huitfeldt B, Amor B, Calin A, Cats A, Dijkmans B, Olivieri I, Pasero G, et al. The European Spondylarthropathy Study Group preliminary criteria for the classification of spondylarthropathy. Arthritis Rheum. 1991;34(10):1218–27.CrossRefPubMed
8.
go back to reference Rudwaleit M, van der Heijde D, Landewe R, Listing J, Akkoc N, Brandt J, Braun J, Chou CT, Collantes-Estevez E, Dougados M, et al. The development of Assessment of SpondyloArthritis international Society classification criteria for axial spondyloarthritis (part II): validation and final selection. Ann Rheum Dis. 2009;68(6):777–83.CrossRefPubMed Rudwaleit M, van der Heijde D, Landewe R, Listing J, Akkoc N, Brandt J, Braun J, Chou CT, Collantes-Estevez E, Dougados M, et al. The development of Assessment of SpondyloArthritis international Society classification criteria for axial spondyloarthritis (part II): validation and final selection. Ann Rheum Dis. 2009;68(6):777–83.CrossRefPubMed
9.
go back to reference Poddubnyy D, van Tubergen A, Landewe R, Sieper J, van der Heijde D. Development of an ASAS-endorsed recommendation for the early referral of patients with a suspicion of axial spondyloarthritis. Ann Rheum Dis. 2015;74(8):1483–7.CrossRefPubMed Poddubnyy D, van Tubergen A, Landewe R, Sieper J, van der Heijde D. Development of an ASAS-endorsed recommendation for the early referral of patients with a suspicion of axial spondyloarthritis. Ann Rheum Dis. 2015;74(8):1483–7.CrossRefPubMed
10.
go back to reference van den Berg R, de Hooge M, Rudwaleit M, Sieper J, van Gaalen F, Reijnierse M, Landewe R, Huizinga T, van der Heijde D. ASAS modification of the Berlin algorithm for diagnosing axial spondyloarthritis: results from the SPondyloArthritis Caught Early (SPACE)-cohort and from the Assessment of SpondyloArthritis international Society (ASAS)-cohort. Ann Rheum Dis. 2013;72(10):1646–53.CrossRefPubMed van den Berg R, de Hooge M, Rudwaleit M, Sieper J, van Gaalen F, Reijnierse M, Landewe R, Huizinga T, van der Heijde D. ASAS modification of the Berlin algorithm for diagnosing axial spondyloarthritis: results from the SPondyloArthritis Caught Early (SPACE)-cohort and from the Assessment of SpondyloArthritis international Society (ASAS)-cohort. Ann Rheum Dis. 2013;72(10):1646–53.CrossRefPubMed
11.
go back to reference Reveille JD. Genetics of spondyloarthritis—beyond the MHC. Nat Rev Rheumatol. 2012;8(5):296–304.CrossRefPubMed Reveille JD. Genetics of spondyloarthritis—beyond the MHC. Nat Rev Rheumatol. 2012;8(5):296–304.CrossRefPubMed
12.
go back to reference Aho K, Ahvonen P, Lassus A, Sievers K, Tilikainen A. HL-A antigen 27 and reactive arthritis. Lancet. 1973;2(7821):157.CrossRefPubMed Aho K, Ahvonen P, Lassus A, Sievers K, Tilikainen A. HL-A antigen 27 and reactive arthritis. Lancet. 1973;2(7821):157.CrossRefPubMed
13.
go back to reference Wakefield D, Chang JH, Amjadi S, Maconochie Z, Abu El-Asrar A, McCluskey P. What is new HLA-B27 acute anterior uveitis? Ocul Immunol Inflamm. 2011;19(2):139–44.CrossRefPubMed Wakefield D, Chang JH, Amjadi S, Maconochie Z, Abu El-Asrar A, McCluskey P. What is new HLA-B27 acute anterior uveitis? Ocul Immunol Inflamm. 2011;19(2):139–44.CrossRefPubMed
14.
go back to reference Calin A, Porta J, Fries JF, Schurman DJ. Clinical history as a screening test for ankylosing spondylitis. JAMA. 1977;237(24):2613–4.CrossRefPubMed Calin A, Porta J, Fries JF, Schurman DJ. Clinical history as a screening test for ankylosing spondylitis. JAMA. 1977;237(24):2613–4.CrossRefPubMed
15.
go back to reference Rudwaleit M, Metter A, Listing J, Sieper J, Braun J. Inflammatory back pain in ankylosing spondylitis: a reassessment of the clinical history for application as classification and diagnostic criteria. Arthritis Rheum. 2006;54(2):569–78.CrossRefPubMed Rudwaleit M, Metter A, Listing J, Sieper J, Braun J. Inflammatory back pain in ankylosing spondylitis: a reassessment of the clinical history for application as classification and diagnostic criteria. Arthritis Rheum. 2006;54(2):569–78.CrossRefPubMed
16.
go back to reference van den Berg R, de Hooge M, van Gaalen F, Reijnierse M, Huizinga T, van der Heijde D. Percentage of patients with spondyloarthritis in patients referred because of chronic back pain and performance of classification criteria: experience from the Spondyloarthritis Caught Early (SPACE) cohort. Rheumatology (Oxford). 2013;52(8):1492–9.CrossRef van den Berg R, de Hooge M, van Gaalen F, Reijnierse M, Huizinga T, van der Heijde D. Percentage of patients with spondyloarthritis in patients referred because of chronic back pain and performance of classification criteria: experience from the Spondyloarthritis Caught Early (SPACE) cohort. Rheumatology (Oxford). 2013;52(8):1492–9.CrossRef
17.
go back to reference Dougados M, d’Agostino MA, Benessiano J, Berenbaum F, Breban M, Claudepierre P, Combe B, Dargent-Molina P, Daures JP, Fautrel B, et al. The DESIR cohort: a 10-year follow-up of early inflammatory back pain in France: study design and baseline characteristics of the 708 recruited patients. Joint Bone Spine. 2011;78(6):598–603.CrossRefPubMed Dougados M, d’Agostino MA, Benessiano J, Berenbaum F, Breban M, Claudepierre P, Combe B, Dargent-Molina P, Daures JP, Fautrel B, et al. The DESIR cohort: a 10-year follow-up of early inflammatory back pain in France: study design and baseline characteristics of the 708 recruited patients. Joint Bone Spine. 2011;78(6):598–603.CrossRefPubMed
18.
go back to reference Leirisalo-Repo M, Hannu T, Mattila L. Microbial factors in spondyloarthropathies: insights from population studies. Curr Opin Rheumatol. 2003;15(4):408–12.CrossRefPubMed Leirisalo-Repo M, Hannu T, Mattila L. Microbial factors in spondyloarthropathies: insights from population studies. Curr Opin Rheumatol. 2003;15(4):408–12.CrossRefPubMed
19.
20.
go back to reference Reich K, Kruger K, Mossner R, Augustin M. Epidemiology and clinical pattern of psoriatic arthritis in Germany: a prospective interdisciplinary epidemiological study of 1511 patients with plaque-type psoriasis. Br J Dermatol. 2009;160(5):1040–7.CrossRefPubMed Reich K, Kruger K, Mossner R, Augustin M. Epidemiology and clinical pattern of psoriatic arthritis in Germany: a prospective interdisciplinary epidemiological study of 1511 patients with plaque-type psoriasis. Br J Dermatol. 2009;160(5):1040–7.CrossRefPubMed
Metadata
Title
Is the current ASAS expert definition of a positive family history useful in identifying axial spondyloarthritis? Results from the SPACE and DESIR cohorts
Authors
Zineb Ez-Zaitouni
Andrea Hilkens
Laure Gossec
Inger Jorid Berg
Robert Landewé
Roberta Ramonda
Maxime Dougados
Désirée van der Heijde
Floris van Gaalen
Publication date
01-12-2017
Publisher
BioMed Central
Published in
Arthritis Research & Therapy / Issue 1/2017
Electronic ISSN: 1478-6362
DOI
https://doi.org/10.1186/s13075-017-1335-8

Other articles of this Issue 1/2017

Arthritis Research & Therapy 1/2017 Go to the issue