Jo Walsh

Access to care for children and young people diagnosed with localized scleroderma or juvenile SSc in the UK

OBJECTIVES To describe pathways of care and referral to paediatric rheumatology from onset of first symptom (noticed by the patient or their family) to diagnosis for children and young people diagnosed with localized scleroderma (LS) or juvenile SSc (jSSc). METHODS Retrospective case note audit of patients under paediatric rheumatology care who presented during January 2005-January 2010. Data included disease subtype, sex, age at key points in the referral pathway and health care professional (HCP) contact. All patient and HCP data were pseudo-anonymized in accordance with good clinical practice. RESULTS Data were from eight UK centres that saw 89 cases: 62 females, 26 males; 73 LS, 16 jSSc. Median time from first symptom to first HCP review was 4 (range 0-72) months (LS) and 1 (range 0-50) month (jSSc). Median time from first symptom to paediatric rheumatology review was 15 (range 1-103) months (LS) and 7 (range 0-50) months (jSSc). Median time from first HCP review to first paediatric rheumatology review was 11 (range 0-103) months (LS) and 2 (range 0-10) months. First HCP seen (74%) was usually a general practitioner. The referring HCP to paediatric rheumatology was usually a dermatologist (56%) for LS. Median time from first symptom to diagnosis was 13 (range 1-102) months (LS) and 8 (range 1-50) months (jSSc). CONCLUSION A prolonged interval occurs from first symptom to definitive diagnosis, which may adversely affect outcome. There is a need to raise awareness of this rare diagnosis and facilitate earlier recognition.

Foot orthoses in children with juvenile idiopathic arthritis: a randomised controlled trial

Introduction There is limited evidence supporting the podiatric treatment of children with juvenile idiopathic arthritis (JIA). This multicentre randomised controlled trial aimed to determine whether preformed foot orthoses (FOs) impacted on pain and quality of life (QoL) in children with JIA. Methods Eligible children were randomised to receive either ‘fitted’ FOs with customised chair-side corrections or ‘control’ FOs made without corrections. Changes in pain and QoL were measured using a visual analogue scale and Paediatric Quality of Life questionnaire, respectively. JIA children were assessed at baseline, 3 months and 6 months. Results 60 children were recruited. 179 out of a possible 180 assessments (99.4%) were completed. A statistically significant greater difference in pain reduction (baseline—6 months) was seen between the two groups favouring fitted FOs (p=0.029). The reduction in pain in the fitted FOs group was clinically important (8 mm). Significant differences in QoL favouring fitted FOs were also identified as measured by the children and independently by their parents/carers. Conclusions Fitted FOs may reduce pain and improve QoL in selected children with JIA. Trial registration number NCT02001844.

G426 A Case report: Copa mutation – a new condition to consider with polyarthritis and interstitial lung disease

Aim We present a case report to illustrate a new condition to consider in a child with clinical features of polyarthritis and interstitial lung disease. Methods Retrospective Case Note Review. Case A 4 year old girl presented to Paediatric Rheumatology with an 18 month history of joint pain. Examination confirmed extensive joint swelling, and investigations revealed she was ANA positive. She was diagnosed with polyarticular juvenile idiopathic arthritis and commenced on steroids and methotrexate, resulting in clinical remission 13 months later. Aged 6, due to persistent cough, decreased exercise tolerance and finger clubbing, she underwent a respiratory workup. Chest xray revealed widespread reticulo-nodular changes; lung function showed a restrictive defect (FEV1 and FVC both 54% predicted); CT chest showed appearances of interstitial lung disease; bronchoalveolar lavage contained numerous lipid-laden macrophages but no infection was identified; CFTR genetic analysis revealed the genotype F508del/R117H(7T) (sweat chlorides 52 and 38 mmol/L). FEV1 improved to 64% following antibiotic treatment. Subsequent pH study revealed significant gastro-oesophageal reflux and anti-reflux medications were added. Methotrexate was stopped. A scheduled lung biopsy was postponed when she became unwell with macrophage activation syndrome. She met ACR criteria for SLE and was treated with steroids and cyclophosphamide. When stable, lung biopsy was obtained, which revealed a mixed picture of inflammation and aspiration. She subsequently underwent fundoplication and treatment with Rituximab. Currently (aged 10 years), lung function remains stable (FEV174%, FVC 79% predicted). Medications include mycophenolate mofetil, hydroxychloroquine, prednisolone and antibiotics. In view of new understanding of autoimmune inflammatory lung disease, we undertook genetic analysis, and confirmed she has a COPA mutation (c.727G>A/p.Asp243Asn substitution in exon9). Discussion In 2015, Watkin et al. described COPA mutation, causing hereditary autoimmune-mediated lung disease and arthritis. The COPA gene encodes subunit of the coatomer protein complex, required for retrograde protein trafficking from the Golgi to the endoplasmic reticulum. How this causes inflammatory arthritis and lung disease is unknown. To our knowledge this is the first UK case to be described. This rare condition should be considered in a child with features of polyarthritis and interstitial lung disease. The relevance of the CFTR sequence variants is unclear.

Retrospective audit of access to care for children and young people diagnosed with localised scleroderma or juvenile systemic sclerosis in the United Kingdom

Purpose Localised scleroderma (LS) and juvenile systemic sclerosis (jSSc) are very rare paediatric diseases managed by paediatric rheumatologists and dermatologists[1]. Optimal treatment is controversial in the absence of clinical trials, but most paediatric rheumatologists advocate systemic immunosuppression to avoid progressive deformity, functional disability and disfigurement[2]. We aimed to describe pathways through which children and young people receive a diagnosis of LS or jSSc, and to document these pathways from the time the first symptom was noticed by the patient or their family, through to the time when a diagnosis of LS or jSSc was first considered. We also aimed to document the health care professionals involved in these pathways to diagnosis.