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

objectiveWe 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.

methodsA 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.

resultsForty-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).

conclusionHigh 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.