University of Bern, Bern, Switzerland
Department of Internal Medicine, University of Maastricht, Maastricht, The Netherlands.
Ann Rheum Dis. 2022 Jun;81(6):831-837. doi: 10.1136/annrheumdis-2021-222083. Epub 2022 Mar 11.
Factors predicting axial spondyloarthritis (axSpA) among first-degree relatives (FDRs) of ankylosing spondylitis (AS) patients need to be defined. We investigated the predictive value of the probands' HLA-B27 and radiographic sacroiliitis status on disease occurrence among their FDR. We also assessed the predictive value of features of the clinical history, including chronic inflammatory back pain (CIBP) and acute anterior uveitis (AAU), among the FDR and how they can be used to improve classification and diagnosis of axSpA.
In 1985, we studied 363 AS probands and 806 FDR who underwent rheumatologic examination, completed questionnaires, provided blood samples for HLA-typing and underwent radiography of sacroiliac joints. At follow-up in 2018-2019, 125 patients and 360 FDR were available for study, and completed a postal questionnaire about axSpA features. FDRs were asked to report whether after 1985 they had been diagnosed by Swiss rheumatologists as having axSpA.
Among HLA-B27(+) FDR, axSpA occurred in 25.4%-26.3%, independent of the radiographic sacroiliitis status of the proband. AAU occurred in 13/34 (38.2%) FDR with axSpA vs 29/251 (11.6%) FDR without axSpA (p0.00004, OR=4.74 95% CI 2.15 to 10.47). The presence of CIBP at baseline did not predict later occurrence of axSpA but combining CIBP and pain/discomfort at the thoracic spine at anterior (ventral) chest wall ever, assessed at follow-up in 2018-2019, provided 83.1% sensitivity and 87.2% specificity for current axSpA.
Occurrence of AAU among FDR of axSpA probands should prompt screening for axSpA. Moreover, co-occurrence of CIBP and pain/discomfort in the thoracic spine and at anterior chest wall as a three-question tool may further enhance clinical suspicion of axSpA among these FDR.
需要确定预测强直性脊柱炎（AS）患者一级亲属（FDR）中轴型脊柱关节炎（axSpA）的因素。我们研究了先证者 HLA-B27 和放射学骶髂关节炎状态对其 FDR 疾病发生的预测价值。我们还评估了 FDR 中临床病史特征（包括慢性炎症性背痛（CIBP）和急性前葡萄膜炎（AAU））的预测价值，以及如何将其用于改善 axSpA 的分类和诊断。
1985 年，我们研究了 363 例 AS 先证者和 806 例 FDR，他们接受了风湿病学检查、完成了问卷调查、提供了 HLA 分型血样并接受了骶髂关节放射学检查。在 2018-2019 年的随访中，125 名患者和 360 名 FDR 可供研究，并完成了一份关于 axSpA 特征的邮寄问卷。FDR 被要求报告他们是否在 1985 年后被瑞士风湿病学家诊断为 axSpA。
在 HLA-B27(+) FDR 中，axSpA 的发生率为 25.4%-26.3%，与先证者的放射学骶髂关节炎状态无关。AAU 发生在 34 例 axSpA FDR 中（38.2%），而在 251 例无 axSpA FDR 中（11.6%）（p<0.00004，OR=4.74 95% CI 2.15 至 10.47）。基线时存在 CIBP 并不预测随后 axSpA 的发生，但在 2018-2019 年的随访中结合 CIBP 和胸脊柱疼痛/不适以及前胸壁前（腹侧）胸痛的存在，提供了 83.1%的敏感性和 87.2%的特异性用于当前 axSpA。
axSpA 先证者的 FDR 中 AAU 的发生应提示 axSpA 的筛查。此外，在这些 FDR 中，将 CIBP 和胸脊柱及前胸壁疼痛/不适相结合作为一个三问工具，可能会进一步增强对 axSpA 的临床怀疑。
