Abstracts from ESID THE HEALTH OF CARRIERS OF X-LINKED CHRONIC GRANULOMATOUS DISEASE IN THE UNITED KINGDOM

s from ESID THE HEALTH OF CARRIERS OF X-LINKED CHRONIC GRANULOMATOUS DISEASE IN THE UNITED KINGDOM Battersby AC, Pearce MS, Barge D, Braggins H, Cale CM, Goldblatt D, Gennery AR Background X-linked (XL) CGD, a rare primary immunodeficiency due to CYBB mutations leading to defective gp91, results in decreased/absent respiratory oxidative burst. High rates of discoid lupus have been reported in XL-carriers. Current literature about XL-CGD carrier health is limited to small series and anecdotal reports. We undertook a large in-depth study of XL-CGD carriers. Methods XL-CGD families were identified and XL-carriers recruited. Participants completed detailed questionnaires about their medical health with particular attention to SLE and gastrointestinal (GI) symptoms. Affected and unaffected groups were compared by t-tests to see if age/neutrophil oxidative burst (NOB) were significant. Results 71 recruited (study remains open). Mean age 43 years (3-77). Mean NOB 50% (9-94%) Photosensitivity, mouth ulcers and joint symptoms occurred in >60%. GI symptoms present in >50%. 10 had undergone invasive investigations. 4 diagnosed with Inflammatory Bowel Disease (IBD). Affected Unaffected Recurrent Ulcers 54 17 Raynaud’s 25 46 Joint Pain 45 26 Photosensitivity 52 19 GI Symptoms 37 34 Recurrent Skin Abscess 6 65 Age was not significantly different in affected/unaffected groups. NOB value was significant (p=0.02) only for recurrent skin abscess (lower value more associated with abscesses). Discussion The study’s strength is the detail collected. It is the largest, most comprehensive study of XLCGD carriers to date. The main finding is significant medical problems are more common and diverse than previously considered. The overlap with IBD has not been previously described, highlighting the association between CGD colitis and IBD. XL-CGD carriers are at greater risk of medical problems than previously thought. Symptoms do not correlate well with NOB or age. Greater awareness of potential medical problems is required. The Psychological Health of X-linked Carriers of Chronic Granulomatous Disease in the United Kingdom Battersby AC, McKendrick F, Pearce MS, Braggins H, Cale CM, Goldblatt D, Gennery AR Background CGD is a rare primary immunodeficiency consisting of recurrent infection and inflammation. 70% of UK cases are X-linked (XL). Female carriers are usually confirmed after a relative’s diagnosis. XL carriers have several risk factors for psychological health problems; a family member with chronic illness, their own medical problems and an association with SLE. SLE is associated with anxiety and depression. Methods XL CGD carriers, identified as relatives of an index case from the CGD Registry, were recruited. Participants completed validated psychological health questionnaires; Hospital Anxiety and Depression Score (HADS) and Pediatric Inventory for Parents (PIP). Data were compared to published norms and published data from comparable groups. A HADS score above 7 (anxiety/depression) is abnormal[1]. Symptom frequency was compared with parents of CF children [2]. HAD mean scores were compared with SLE patients published data [3]. PIP scores distress due to parenting a chronically unwell child with sub-scores about frequency (PIP-F) and severity (PIP-S). PIP’s validation in oncology patients provides comparison data [4]. Results HADS 54 completed No significant difference between CGD carrier mothers and other relatives. 66% XL-CGD carriers greater than borderline anxiety, significantly more frequent than CF parents. CGD Carriers SLE (High-Pain) SLE (Low-Pain) Anxiety 9.6 9 4 Depression 5.0 8 3 PIP 45 Mothers completed. CGD scores similar to oncology parents, but higher PIP-F scores (p 0.006). No correlation between PIP and anxiety/depression symptoms (r<0.3) Discussion CGD carriers had significant rates of anxiety, greater than that seen in CF parents. Lack of correlation between HADS and PIP suggests the cause for anxiety was not solely related to their child’s disease. This study highlights that XL CGD carriers suffer unrecognised but potentially significant psychological health problems which may impact upon their own lives and their ability to cope with the medical needs of their affected children. 1. Zigmond, A.S. and R.P. Snaith, The Hospital Anxiety and Depression Scale. Acta Psychiatrica Scandinavica, 1983. 67(6): p. 361-370. 2. Besier, T. , et al., Anxiety, Depression, and Life Satisfaction in Parents Caring for Children With Cystic Fibrosis. Pediatric Pulmonology, 2011. 46(7): p. 672-682. 3. Waldheim, E. , et al., Health-related quality of life, fatigue and mood in patients with SLE and high levels of pain compared to controls and patients with low levels of pain. Lupus, 2013. 22(11): p. 1118-1127. 4. Streisand, R. , Braniceki, S, Tercyak, KP, Kazak, AE, Childhood Illness-Related Parenting Stress: The Pediatric Inventory for Parents. Journal of Pediatric Psychology, 2001. 26(3): p. 155-162. QUALITY OF LIFE (QOL) IS REDUCED IN X-LINKED CARRIERS OF CHRONIC GRANULOMATOUS DISEASE (CGD)