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J Clin Immunol. 2019 Feb;39(2):195-199. doi: 10.1007/s10875-019-00607-6. Epub 2019 Mar 13.

Health-Related Quality of Life and Emotional Health in X-Linked Carriers of Chronic Granulomatous Disease in the United Kingdom.

Author information

1
Great North Children's Hospital, Clinical Resource Building, Floor 4, Block 2, Queen Victoria Road, Newcastle upon Tyne, NE1 4LP, UK.
2
Department of Immunology, Great Ormond Street Hospital, London, UK.
3
Institute of Health and Society, Newcastle University, Newcastle upon Tyne, UK.
4
Department of Immunology, Royal Free Hospital, London, UK.
5
UCL Institute of Immunity and Transplantation, London, UK.
6
Institute of Child Health, University College London, London, UK.
7
Great North Children's Hospital, Clinical Resource Building, Floor 4, Block 2, Queen Victoria Road, Newcastle upon Tyne, NE1 4LP, UK. a.r.gennery@ncl.ac.uk.
8
Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne, UK. a.r.gennery@ncl.ac.uk.

Abstract

X-linked chronic granulomatous disease (XL-CGD), a rare primary immunodeficiency due to a defect in the gp91phox NADPH oxidase subunit, results in recurrent, severe infection, inflammation, and autoimmunity. Patients have an absent, or significantly reduced, neutrophil oxidative burst. Due to lyonization, XL-CGD carriers have a dual population of functional and non-functional phagocytes and experience a range of symptoms including increased risk of autoimmunity, fatigue, and infection. Patients with CGD have poorer quality of life (QoL) than normal controls. We evaluated QoL and psychological health in UK XL-CGD carriers. Recruited participants completed the Medical Outcomes Study Short Form 36 version 2 (SF-36 V2), providing an overall score for mental and physical health. Psychological health was assessed using the Hospital Anxiety and Depression Scale (HADS) questionnaire. Seventy-five XL-CGD carriers were recruited from 62 families, median age 43 years (range 3-77). Fifty-six were mothers, 6 grandmothers, and 13 siblings. Sixty-two completed the SF36v2 and had reduced QoL scores compared with adult CGD patients and a UK age-matched female control cohort, indicating a reduced QoL. Sixty-one completed a HADS questionnaire. Over 40% experienced moderate or greater levels of anxiety with only one third being classified as normal. Higher anxiety scores significantly correlated with higher depression scores, lower self-esteem, presence of joint or bowel symptoms, and higher levels of fatigue (p < 0.05). This is the first study to evaluate QoL of XL-CGD carriers, and demonstrates high rates of anxiety and significantly reduced QoL scores. XL-CGD carriers should be considered as potential patients and pro-actively assessed and managed.

KEYWORDS:

X-linked chronic granulomatous disease carrier; anxiety; depression; health-related quality of life

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