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Rheumatology (Oxford). 2019 Apr 1. pii: kez095. doi: 10.1093/rheumatology/kez095. [Epub ahead of print]

Is a positive family history of spondyloarthritis relevant for diagnosing axial spondyloarthritis once HLA-B27 status is known?

Author information

Department of Rheumatology, Leiden University Medical Center, Leiden, the Netherlands.
NOVA Medical School, Universidade Nova de Lisboa, Lisbon, Portugal.
Department of Rheumatology, Diakonhjemmet Hospital, Oslo, Norway.
Rheumatology Department, Paris Descartes University, Cochin Hospital, Assistance Publique-Hôpitaux de Paris, INSERM (U1153): Clinical Epidemiology and Biostatistics, PRES Sorbonne Paris-Cité, Paris.
Rheumatology Department, Sorbonne Université, Paris.
Rheumatology Department, Pitié Salpêtrière Hospital, Paris, France.
Department of Rheumatology, University of Gothenburg, Gothenburg, Sweden.
Rheumatology Unit, Department of Medicine DIMED, University of Padova, Padova, Italy.
Department of Rheumatology, Charité Campus Benjamin Franklin, Berlin.
Department of Internal Medicine and Rheumatology, Klinikum Bielefeld Rosenhöhe, Bielefeld.
German Rheumatism Research Centre, Berlin, Germany.
Department of Rheumatology, Amsterdam Rheumatology & Immunology Center, Amsterdam.
Department of Rheumatology, Zuyderland Hospital, Heerlen, the Netherlands.



A positive family history (PFH) of spondyloarthritis, in particular a PFH of AS or acute anterior uveitis, is associated with HLA-B27 carriership in chronic back pain patients. As it is unknown, the study aimed to investigate if a PFH contributes to diagnosing axial spondyloarthritis (axSpA) once HLA-B27 status is known.


In axSpA-suspected patients from the Assessment of SpondyloArthritis international Society (ASAS), DEvenir des Spondyloarthropathies Indifférenciéés Récentes (DESIR) and SPondyloArthritis Caught Early (SPACE) cohorts, logistic regression analyses were performed with HLA-B27 status and PFH according to the ASAS definition (ASAS-PFH) as determinants and clinical axSpA diagnosis as outcome at baseline. Analyses were repeated with a PFH of AS or acute anterior uveitis.


In total, 1818 patients suspected of axSpA were analysed (ASAS n = 594, DESIR n = 647, and SPACE n = 577). In patients from the ASAS, DESIR and SPACE cohorts, respectively 23%, 39% and 38% had an ASAS-PFH, 52%, 58% and 43% were HLA-B27 positive, and 62%, 47% and 54% were diagnosed with axSpA. HLA-B27 was independently associated with an axSpA diagnosis in each cohort but an ASAS-PFH was not [ASAS cohort: HLA-B27 odds ratio (OR): 6.9 (95% CI: 4.7, 10.2), ASAS-PFH OR: 0.9 (95% CI: 0.6, 1.4); DESIR: HLA-B27 OR: 2.1 (95% CI: 1.5, 2.9), ASAS-PFH OR: 1.0 (95% CI 0.7, 1.3); SPACE: HLA-B27 OR: 10.4 (95% CI: 6.9, 15.7), ASAS-PFH OR: 1.0 (95% CI: 0.7, 1.5)]. Similar negative results were found for PFH of AS and acute anterior uveitis.


In three independent cohorts with different ethnical backgrounds, ASAS, DESIR and SPACE, a PFH was not associated independently of HLA-B27 with a diagnosis of axSpA. This indicates that in the vast majority of patients presenting with back pain, a PFH does not contribute to the likelihood of an axSpA diagnosis if HLA-B27 status is known.


axial spondyloarthritis; diagnosis; family history

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