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Retrospective study of 98 patients with X-linked agammaglobulinemia complicated with arthritis

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Abstract

Objective

We preformed this retrospective study of clinical manifestation, imaging feature, and mutations to describe joint involvement in X-linked agammaglobulinemia (XLA) patients, aimed to provide recommendation for physicians.

Methods

A total number of 98 XLA patients who have been diagnosed between January 2000 and February 2020 were enrolled and grouped based on whether they developed arthritis and analyzed for the clinical, imaging, and gene mutation data using the t test or the Mann–Whitney test.

Results

Forty-five out of 98 patients (45.9%) had joint involvement, 40.8% had symptom prior to the diagnosis of XLA, and 54.1% had no articular symptom. Patients with joint involvement had a higher median diagnostic age of XLA and initial IgG level than patients without it, while their intravenous immunoglobulin was lower (p < 0.05). Knee, hip, and ankle were the most frequent joint, and oligoarthritis (≦ 4 joints) was more common than polyarthritis (88.9% vs 11.1%). Red and tenderness were the most frequent clinical symptoms (80%) with 24.4% reporting limited activity and 8.9% reporting deformity. Imaging data collected from 32 patients indicated that joint effusion (53.3%), synovitis (15.5%), and swollen soft tissue (15.5%) were the most common feature. Seventeen patients were treated by antibiotics plus intravenous immunoglobulin (IVIG) with an effective rate of 70.6%, and 28 patients only received IVIG with an effective rate of 67.9%. In comparison to patients without arthritis who have higher frequency nonsense and frameshift mutation, patients with arthritis had a higher incidence of missense mutation (p < 0.05).

Conclusion

High prevalence of arthritis among X-linked agammaglobulinemia patients and subsequent progression through IVIG replacement therapy highlight the importance of timely diagnosis and better management of these patients. Our finding indicated a potential correlation between genotype and phenotype, and further research on the mechanism of arthritis in XLA patients could increase physicians’ awareness and improve patients’ prognosis.

Key Points

• This study described the feature of arthritis in XLA patients and indicated a potential correlation between this complication and genotype.

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Availability of data and material

The datasets are available from the authors upon reasonable request and with permission of the Institutional Review Board of Children’s Hospital, Chongqing Medical University.

Code availability

The SPSSAU project (2021). SPSSAU. (Version 21.0) [Online Application Software]. Retrieved from https://www.spssau.com, GraphPad Prism 8.0. 2

Change history

  • 26 July 2022

    The email address of the corresponding author has been added.

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Acknowledgements

The author would like to thank all the doctors of the Department of Rheumatology and Immunology, Children’s Hospital of Chongqing Medical University for their assistance with obtaining the clinical data and their help in the study design and paper writing.

Author information

Authors and Affiliations

  1. Department of Rheumatology and Immunology, Children’s Hospital of Chongqing Medical University, Chongqing, 400015, China

    Ran Qing-qi, Li Ya-wen, Chen Huan, Zhang Yu, An Yun-fei, Tang Xue-mei & Zhang Zhi-yong

  2. National Clinical Research Center for Child Health and Disorders, Chongqing, 40015, China

    Zhang Yu, An Yun-fei, Tang Xue-mei, Zhao Xiao-dong & Zhang Zhi-yong

  3. Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing, 40015, China

    Zhang Yu, An Yun-fei, Tang Xue-mei, Zhao Xiao-dong & Zhang Zhi-yong

  4. China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Chongqing, 40015, China

    Zhang Yu, An Yun-fei, Tang Xue-mei, Zhao Xiao-dong & Zhang Zhi-yong

  5. Chongqing Key Laboratory of Child Infection and Immunity, Chongqing, 40015, China

    Zhang Yu, An Yun-fei, Tang Xue-mei, Zhao Xiao-dong & Zhang Zhi-yong

  6. The Second Affiliated Hospital, Chongqing Medical University, Chongqing, 400010, China

    Zhao Xiao-dong

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  1. Ran Qing-qi
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Contributions

All authors contributed to the study conception and design. Material preparation, data collection, and analysis and the first draft of the manuscript were performed by Ran Qing-qi, and all authors commented on previous versions of the manuscript. All authors read and approved the final manuscript.

Corresponding author

Correspondence to Zhang Zhi-yong.

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Ethical approval

This study was approved by the Institutional Review Board of Children’s Hospital, Chongqing Medical University (No. 001–2013), and written informed consent was obtained from patients before writing this manuscript.

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Written informed consent was obtained from the patients before writing this manuscript.

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All authors have seen and approved the final version of the manuscript being submitted. This article is the authors’ original work, has not received prior publication, and is not under consideration for publication elsewhere.

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Qing-qi, R., Ya-wen, L., Huan, C. et al. Retrospective study of 98 patients with X-linked agammaglobulinemia complicated with arthritis. Clin Rheumatol 41, 1889–1897 (2022). https://doi.org/10.1007/s10067-022-06095-1

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