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

Abstract

IntroductionPatients 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.MethodsClinical 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.ResultsPediatric 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.ConclusionClinical 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.

Clinical and genetic features of the patients with X‐Linked agammaglobulinemia from Turkey: Single‐centre experience

“…For protection from lung complications, the IVIg doses should be increased in order to maintain serum IgG level >800 mg/dL and antimicrobial prophylaxis with regular chest physiotherapy should be started . A recent study on respiratory health and related quality of life in patients with congenital agammaglobulinemia showed a significant burden of respiratory disease on a patient's life …”

“…18 A recent study on respiratory health and related quality of life in patients with congenital agammaglobulinemia showed a significant burden of respiratory disease on a patient's life. 28 From 26 different families, 26 different mutations were detected. Mutations that we identified in our patients had a similar distribution pattern to the mutations in the BTKbase.…”

Bronchiectasis and deteriorating lung function in agammaglobulinaemia despite immunoglobulin replacement therapy

“…Bryan et al . , in their survey of 15 patients with agammaglobinaemia from the North of England, suggested that there may well be a significant impact on patients' respiratory and overall quality of life. Larger studies are required to understand more fully the overall burden of disease.…”

“…An important question not addressed here is whether the observed radiological evidence of bronchiectasis and the poorer lung function corresponds to deterioration in patients' quality of life. Bryan et al [26], in their survey of 15 patients with agammaglobinaemia from the North of England, suggested that there may well be a significant impact on patients' respiratory and overall quality of life. Larger studies are required to understand more fully the overall burden of disease.…”

Pulmonary Manifestations of Predominantly Antibody Deficiencies

“…With an adequate immunoglobulin therapy, the rate of pneumonias is reduced by more than 10% [14] and lies within the range of 0.00-0.10 pneumonias per treatment year [13,37]. However, approximately 50% of patients might experience deterioration in their respiratory status while receiving immunoglobulin therapy [38]. The rate of infectious episodes during immunoglobulin therapy seems to be agerelated, since there is a threefold increased risk for infections in adult patients compared with pediatric patients (2.12 vs. 0.74 infections/patient/year) [38].…”