Quality of life issues in X-linked CGD carriers

Results of the first study into the quality of life of X-linked CGD carriers (XL-carriers) have been published in the Journal of Clinical Immunology. The results show that high levels of anxiety and significantly reduced quality of life are associated with this carrier status.

Professor Andrew Gennery, Consultant of Paediatric Immunology at the Great North Children’s Hospital, Newcastle, and senior author on the paper, elaborates: ‘Previous studies have shown that a range of symptoms can affect XL-carriers.  These can include an increased risk of autoimmunity, fatigue and, in some cases, infection due to carrying populations of functional and non-functional phagocytes. But we didn’t know how much these and other factors, such as caring for an affected family member, may have on carriers’ quality of life.’

The results found that over 40 per cent of the 61 XL-carriers surveyed had experienced moderate or greater levels of anxiety, with only a third having levels equivalent to those of the general population. The high anxiety scores were strongly associated with high levels of depression, low self-esteem, the presence of joint or bowel symptoms and higher levels of fatigue. Significantly, XL-carriers were found to have lower quality of life scores than CGD patients in the domains of vitality, emotional well-being and mental health.

‘These findings highlight previously unrecognised problems and point to an unmet need in caring for XL-CGD carriers. This group should be considered as potential patients and proactively assessed and managed by clinical teams’, said Professor Gennery.

Publication

Health-related quality of life and emotional health in X-linked carriers of chronic granulomatous disease in the United Kingdom

Battersby AC, Braggins H, Pearce MS, McKendrick F, Campbell M, Burns S, Cale CM, Goldblatt D, Gennery AR.

Journal of Clinical Immunology, 2019 Feb; 39(2): 195–199.

https://link.springer.com/article/10.1007%2Fs10875-019-00607-6