Respiratory Health and Related Quality of Life in Patients with Congenital Agammaglobulinemia in the Northern Region of the UK

• Published in: Journal of clinical immunology 2016-07, Vol.36 (5), p.472-479
• Main Authors: Bryan, Branwen A., Battersby, Alex, Shillitoe, Benjamin Martin James, Barge, Dawn, Bourne, Helen, Flood, Terry, Cant, Andrew J., Stroud, Catherine, Gennery, Andrew R.
• Format: Article
• Language: English
• Subjects: Adolescent; Adult; Agammaglobulinemia - complications; Agammaglobulinemia - epidemiology; Agammaglobulinemia - therapy; B-Lymphocytes - physiology; Biomedical and Life Sciences; Biomedicine; Cell Differentiation; Child; Child, Preschool; Cohort Studies; Disease Management; Female; Genetic Diseases, X-Linked - complications; Genetic Diseases, X-Linked - epidemiology; Genetic Diseases, X-Linked - therapy; Humans; Immunoglobulins, Intravenous - therapeutic use; Immunology; Infectious Diseases; Internal Medicine; Male; Medical Microbiology; Middle Aged; Monitoring, Physiologic; Original; Original Article; Quality of Life; Respiration; Respiratory Function Tests; Respiratory Tract Infections - etiology; Respiratory Tract Infections - prevention & control; Surveys and Questionnaires; United Kingdom; Young Adult
• ISSN: 0271-9142; 1573-2592
• DOI: 10.1007/s10875-016-0284-3

Introduction Patients with congenital agammaglobulinemia, characterized by a defect in B lymphocyte differentiation causing B alymphocytosis, require life-long IgG replacement. There is scant literature regarding the effectiveness of IgG treatment at preventing mucosal (particularly sinopulmonary tract) infection and whether current management adequately restores “normal” health and quality of life (QoL). We aimed to document infective episodes pre- and post-commencing IgG replacement, determine any change in lung function and structure and assess respiratory status and QoL in a cohort of patients treated in Newcastle. Methods Clinical data were extracted from medical records of 15 patients identified from the immunology database, focusing on infective episodes, serial chest CT and spirometry results. Thirteen patients completed a selection of standardized and validated questionnaires assessing physical health, respiratory health and QoL. Results Pediatric patients on IgG therapy suffered fewer infections per patient year (0.74) than adults (2.13). 6/14 patients showed deteriorating respiratory status despite adequate therapy. Health questionnaires revealed a significant burden of respiratory disease on a patient’s life. Conclusion Clinical data showed patients with congenital agammaglobulinemia receiving immunoglobulin therapy retained a higher than average infection rate, most of which affected mucosal barriers. Most patients self-reported worse respiratory symptoms, a lower respiratory-related QoL and a lower general health QoL relative to a healthy population. Most participants had progressive structural lung damage and decreased lung function. These results suggest that current management is not entirely effective at preventing deterioration of respiratory health or restoring QoL.