X-连锁丙种球蛋白血症(XLA)是一种原发性免疫缺陷(PID),由编码布鲁顿酪氨酸激酶(BTK)的基因缺陷引起。在没有功能性BTK的情况下,患者循环B细胞低或不存在,血清免疫球蛋白低或不存在.尽管丙种球蛋白替代和迅速使用抗菌剂,XLA患者在其一生中持续经历感染性和非感染性并发症.这项研究的目的是了解美国XLA患者的自我感知健康状况,并检查临床特征之间的关联,治疗经验,和生活质量(QoL)。
46和68问题调查,由免疫缺陷基金会(IDF)和针对成人的ShortForm-12itemv2®(SF-12v2®)和针对儿童的SF-10™开发,以评估QoL,由IDF在2017年和2018年邮寄给患者。选择那些自我鉴定为患有XLA或患有无丙种球蛋白血症的男性的人进行分析。将SF-12v2®的平均身体和心理综合评分(PCS和MCS)以及SF-10™评分的平均身体健康成分(PHS)和心理健康总结(PSS)与美国规范数据进行比较。
91名患者完成了调查:58名(63.7%)成人和33名(36.3%)儿童。对于合并调查,调查时的总体中位年龄为28.5岁(yrs);四分位数间距(IQR)13~49.5岁;诊断时的中位年龄为2岁(IQR=0~4岁),XLA诊断的中位年龄为23岁(IQR10.75~40岁).在成年患者中,身体评分低于一般成年人群,但未达到统计学意义.相比之下,2个或更多的慢性疾病影响身体和精神QoL(p<.001),住院与身体健康QoL显着下降有关(p<.001);在过去的12个月中,有3个或更多的感染对身体健康有影响,尽管没有统计学意义。与公共和私人合并或单独使用私人的成年患者相比,拥有公共保险的成年患者在心理健康领域的表现更差(p=0.001)。就业状况不影响QoL。这些变量均未达到统计学意义,也未显示对儿科人群在身体或精神健康领域的影响。
我们的研究进一步深入了解了哪些因素影响XLA患者的身体和精神健康领域。早期发现以防止相关发病率的发展,以及警惕的护理,以防止住院和感染,可以限制这种疾病可能对XLA患者整体健康的影响。
X-linked agammaglobulinemia (
XLA) is a primary immunodeficiency (PID) caused by a defect in the gene encoding for Bruton tyrosine kinase (BTK). In the absence of a functional BTK, patients have low or absent circulating B cells and low or absent serum immunoglobulin. Despite gammaglobulin replacement and prompt use of antimicrobial agents, patients with
XLA continue to experience infectious and non-infectious complications throughout their lifetime. The purpose of this study was to understand self-perceived health status of US-based patients with
XLA, and examine the associations amongst clinical characteristics, treatment experience, and quality of life (QoL).
A 46 and 68 question survey, developed by the Immune Deficiency Foundation (IDF) and a Short Form-12item v2® (SF-12v2®) for adults and SF-10™ for children to assess QoL, were mailed by IDF to patients in 2017 and 2018. Those that self-identified as having
XLA or males with agammaglobulinemia were selected for analysis. Mean physical and mental composite scores (PCS and MCS) from SF-12v2® and mean physical health component (PHS) and psychological health summary (PSS) from SF-10™ scores were compared to the US normative data.
Ninety-one patients completed the surveys: 58 (63.7%) adults and 33 (36.3%) children. For the combined surveys, the overall median age at time of the survey was 28.5 years (yrs); Inter-Quartile-Range (IQR) 13-49.5 yrs; the median age at diagnosis was 2 yrs (IQR = 0-4 yrs) and the median number of years with
XLA diagnosis was 23 (IQR 10.75-40yrs). Amongst adult patients, physical scores were noted to be below the general adult population but did not reach statistical significance. In contrast, 2 or more chronic conditions impacted both physical and mental QoL (p < .001) and hospitalization was associated with significantly decreased physical health QoL (p < .001); three or more infections in the past 12 months exhibited impact on physical health although was not found to be statistically significant. Adult patients with public insurance fared worse in mental health domains compared to those with combined public and private or those with private alone (p = 0.001). Employment status did not impact QoL. None of these variables met statistical significance nor demonstrated impact within the pediatric population in either physical or mental domains of health.
Our study provides further insight into what factors impact both physical and mental domains of health amongst patients with XLA. Early detection to prevent the development of associated morbidity, as well as vigilant care to prevent hospitalizations and infections, can limit the impact this disease may have on the overall well-being of XLA patients.