Background and Aims

Treatment for X-Linked agammaglobulinaemia (XLA) is IgG replacement, which lacks IgA and IgM. Patients remain at continued risk of respiratory tract infections and potentially bronchiectasis. This observational study analysed the quality of life (QoL) in UK XLA patients to ascertain if novel therapies are justified, most notably newborn screening and gene therapy.

Methods

QoL data were collected from 53 patients with a definitive diagnosis of XLA using validated, self-reporting questionnaires and compared against healthy norms and patients with cystic fibrosis (CF).

Results

Paediatric QoL scores were not significantly different from healthy norms or CF patients. Adult QoL scores were not significantly different from UK norms, apart from general health, which was significantly lower in XLA patients (Figure 1). Patients with bronchiectasis had significantly worse QoL than patients without bronchiectasis for all sections apart from pain. Adult QoL scores correlate strongly with their FEV1 Z-Scores (rho = 0.697, p = 0.006). XLA patients have significantly worse respiratory health-related QoL compared to UK healthy norms and are comparable to CF (Figure 2).

(* p<0.05, ** p<0.005)

Conclusions

In the absence of bronchiectasis, XLA patients tend to have a normal QoL. However, bronchiectasis is associated with significantly worse QoL, which is similar to patients with cystic fibrosis and correlates strongly with patient’s lung function results. The prevention of bronchiectasis should therefore be a priority for XLA patients, which may be difficult given the limitations in current therapies.