Anti-Ro/SS-A Antibody is Associated with Worse Pulmonary Outcome and Reduced Overall Survival in Systemic Sclerosis

ABSTRACT Objective We sought to determine the association of anti-Ro/SS-A antibody with organ involvement and disease outcome, in patients with systemic sclerosis (SSc). Methods A retrospective, long-term study of a cohort of incident patients diagnosed with SSc, and continuously followed at our rheumatology clinic during 1990-2018. Results Included were 105 patients with known anti-Ro/SS-A antibody status, 92.4% female, mean age at diagnosis 52.0±15.6 years, and median follow-up 10 years; 64% were diagnosed with limited cutaneous SSc, 18% with diffuse cutaneous SSc, and 18% had SSc siné scleroderma or undetermined disease type. Anti-Ro/SS-A antibody tested positive in 21% of patients. In univariate analysis, anti-Ro/SS-A antibody-positivity was significantly associated with SSc overlap with Sjogren’s syndrome (p <0.001). Pulmonary function tests (PFT) deterioration at last encounter was significantly associated with anti-Ro/SS-A antibody-positivity. In multivariate regression for anti-Ro/SS-A antibody-positive SSc patients and disease outcome (adjusted for age>50 years, smoking, and baseline predicted forced vital capacity (pFVC) < 80%), positive anti-Ro/SS-A antibody was significantly associated with higher all-cause mortality rate (HR 5.17, CI 95% 1.18-22.67, p=0.029), and greater deterioration of pFVC defined as decrement of last available pFVC compared to first available pFVC of ≥10% (HR 3.65, CI 95% 1.07-12.38, p=0.038). Conclusions Anti-Ro/SS-A antibody is an independent risk factor for worse pulmonary outcome and higher all-cause mortality in patients with SSc, independent of SSc clinical and/or serological subtype.

Using quality improvement methodology and tools to reduce patient wait time in a paediatric subspecialty rheumatology clinic

Our paediatric rheumatology clinic has experienced inefficient patient flow. Our aim was to reduce mean wait time and minimise variation for patients. Baseline data showed that most waiting occurs after a patient has been roomed, while waiting for the physician. Wait time was not associated with a patient’s age, time of day, day of the week or individual physician. We implemented a checkout sheet and staggered start times. After a series of plan–do–study–act cycles, we observed an initial 26% reduction in the variation of wait time and a final 17% reduction in the mean wait time. There was no impact on patient–physician contact time. Overall, we demonstrate how process improvement methodology and tools were used to reduce patient wait time in our clinic, adding to the body of literature on process improvement in an ambulatory setting.

Progressive pseudorheumatoid dysplasia misdiagnosed as juvenile idiopathic arthritis: a case report

Background Progressive pseudorheumatoid dysplasia is a rare, autosomal recessively inherited, noninflammatory musculoskeletal disorder caused by mutations occurring in the WNT1-inducible signaling pathway protein 3 gene. Joint cartilage is the primary site of involvement, leading to arthralgia, joint stiffness, contractures, enlargement of the epiphyses and metaphysis of the hand joints, spinal abnormalities, short stature, early osteoarthritis, and osteoporosis. Juvenile idiopathic arthritis is the most common chronic rheumatic disease in childhood and has unknown etiology. Clinical features of progressive pseudorheumatoid dysplasia resemble those of juvenile idiopathic arthritis. Patients with progressive pseudorheumatoid dysplasia are usually misdiagnosed as having juvenile idiopathic arthritis. Case presentation A 13-year-old Yemeni female presented to the rheumatology clinic with a history of joint pains, bone pains, and bone deformity for 7 years. Weight and height were below the third percentiles. There was no tender swelling of metacarpophalangeal and interphalangeal joints, and she presented with scoliosis. Radiographs of the hands revealed the widening of the epiphyses. Progressive pseudorheumatoid dysplasia was suspected, and genetic testing for WNT1-inducible signaling pathway protein 1, 2, and 3 was requested with these findings. A homozygous, likely pathogenic variant was identified in the WNT1-inducible signaling pathway protein 3 gene, which confirmed our diagnosis. Conclusion Progressive pseudorheumatoid dysplasia is a rare form of spondyloepimetaphyseal dysplasia and is clinically misdiagnosed as juvenile idiopathic arthritis. It is crucial to consider progressive pseudorheumatoid dysplasia, especially in patients with standard inflammatory markers who are being followed up for juvenile idiopathic arthritis and not improving with antirheumatic intervention.

P046 A review and retrospective case series of paediatric Sjögren’s syndrome from Southern Africa

Background Paediatric Sjögren’s syndrome (pSS) is an uncommon autoimmune paediatric disease, rarely reported in children in Africa. It remains an important consideration in a child with parotid swelling. Here, we present a retrospective case-series of four patients from a paediatric rheumatology clinic in South Africa and discuss some of the difficulties of diagnosis in our context. Methods We performed a retrospective analysis of patients who attend the Red Cross War Memorial Hospital Paediatric Rheumatology clinic between 2010 and 2019. Result The four patients diagnosed with Sjögren’s all had varied presentations and disease courses. There were 3 females and 1 male and the ages at diagnosis ranged from 6 to 19 years old. The time to diagnosis was prolonged and ranged from 1 month to 10 years. Two patients with primary pSS presented with extra-articular manifestations of arthritis, abdominal pain and fatigue, followed by dry mouth, dry eyes, parotid swelling and and suggestive histopathology. The remaining 2 patients had a secondary pSS due to juvenile onset SLE and tuberculosis respectively. Conclusion In less resourced settings the diagnosis of pSS is often delayed. Both patients with primary pSS had preceding extra-glandular manifestations. In less resourced settings, infectious diseases may present as pSS and associated rheumatic diseases causing secondary pSS must be considered.

P090 Rheumatic symptoms as the first manifestations of underlying systemic disorders

Background Joint and limb pain is a common presenting complaint within the paediatric population, affecting 10–20% of school-age children. They are also a major reason for referral to paediatric rheumatology clinics (1). The differential diagnosis for joint pain and/or swelling can include both benign and malignant causes. Studies have found that < =1% of musculoskeletal complaints are caused by neoplasia, mostly acute lymphoblastic leukaemia (ALL) (1). It is essential to exclude life-threatening conditions such as infections and malignancies before initiation of treatment for presumptive Juvenile Idiopathic Arthritis (JIA) (2). The objective of this case series is to highlight the musculoskeletal features and the clinical course among children with haematological malignancies. Methods Charts of patients referred from rheumatology clinic to the haemato-oncology clinic were selected. A detailed chart review was then carried out to obtain information on clinical presentation, diagnostic work up and clinical progress of the patient. Results Case 1 CS, A 2 year and 2 months old girl who presented to paediatric rheumatology clinic with 5 month history of lower limb pain associated with a fever of 40’C. The pain progressively worsened leading to inability to walk. She had previously been treated for Idiopathic Thrombocytopenic Purpura with steroids. Initial Bone Marrow Aspiration (BMA) had ruled out leukaemia. Four months later, her condition had worsened and was referred to our facility where a peripheral blood film and flow cytometry confirmed B cell ALL. Treatment was initiated but unfortunately the patient’s condition deteriorated and eventually passed away. Case 2 NM, a 2 year and 10 months old girl presented to our paediatric rheumatology clinic with bilateral foot pain for 8 weeks. She was initially limping and progressed to inability to walk within a month. Rheumatology review in Tanzania diagnosed the patient as JIA and started on steroids. On examination, systemic findings were normal except bilateral ankle joint effusion and tenderness. An X-ray displayed bilateral transverse lucencies in the metaphyseal ends of the tibia and fibula. BMA was done and confirmed ALL. Treatment was initiated and the patient attained remission after 18 months of therapy. She remains well 2 years after completion of therapy. Case 3 NC, a 4-year-old girl, presented with multiple joint pains for 2 weeks. Pain was associated with night awakening and recurrent fevers. C-Reactive Protein (CRP) was persistently high and was treated with several courses of antibiotics. She was assessed by a haemato-oncologist with unremarkable findings. A decision was made to do a BMA and flow cytometry, which confirmed B cell ALL. Conclusion Musculoskeletal complaints are frequently the initial manifestations of acute leukaemia in childhood (60%) and should be considered in the differential diagnosis of JIA (3). Initially laboratory test results can be normal therefore it is necessary to follow these children closely and request serial tests, until there is a clearly defined diagnosis of neoplasia. Finally, malignancy should be eliminated before introduction of immunosuppressive therapy as the use of steroids may mask and delay its diagnosis (2).

The perception of stakeholders on the applicability of nurse-led clinics in the management of rheumatoid arthritis

Objectives RA should be treated to target in a process of shared decision-making with patients. Person-centred care is essential to meeting specific patient needs. Nurse-led clinics, where a nurse is responsible for care, have demonstrated added value in some countries but are still not implemented widely. This study aimed to explore stakeholders’ perceptions of advantages, disadvantages and conditions for the implementation of nurse-led clinics for RA in Belgium. Methods We performed a cross-sectional qualitative study consisting of five semi-structured focus group interviews. Rheumatology nurses, patients with RA and rheumatologists were interviewed as stakeholders. The analysis was carried out by three researchers according to the Qualitative Analysis Guide of Leuven (QUAGOL), formulating a conceptual framework of overarching themes and deconstructing this into perceived advantages, disadvantages and conditions. Results Two focus groups with nurses (total n = 16), two with patients (n = 17) and one with rheumatologists (n = 9) were conducted. The interview synthesis resulted in five overarching themes across stakeholders: efficiency of care, disease management, legal and organizational requirements, the conventional role of the nurse and the extended role of the nurse. All stakeholders perceived additional education for nurses as essential, but rheumatologists debated nurses’ abilities to lead a rheumatology clinic. Furthermore, patients preferred care protocols to guide nurses, and care providers approached this reluctantly. Generally, patients with a well-controlled disease were perceived as the ideal candidates for nurse-led care. Conclusion Nurse-led clinics could provide many benefits but require additional nurse education and a legal and organizational framework before being implemented widely and successfully.

Examining the impact of video-based outpatient education on patient demand for a rheumatology CNS service

Background: Patient demand for education and access to the clinical nurse specialists (CNSs) during the rheumatology clinic at one hospital in Ireland was increasing. Alternative methods of providing patient education had to be examined. Aims: To explore the efficacy of video-based outpatient education, and its impact on demand for the CNSs. Methods: A video was produced to play in a rheumatology outpatient department. A representative sample of 240 patients (120 non-exposed and 120 exposed to the video) attending the clinic was selected to complete a questionnaire exploring the effect of the video. Data were analysed using chi-square tests with Yates' continuity correction. Findings: Demand for the CNSs was six times higher in the non-exposed group compared with the exposed group (non-exposed: 25%, exposed: 4.8%) (χ2=15.7, P=0.00007), representing a significant decrease in resource demand. Conclusion: High-quality educational videos on view in the rheumatology outpatient department provide patients with information sufficient to meet their educational needs, thus releasing CNS resources.

Knowledge about juvenile idiopathic arthritis-associated uveitis: more frequent reminders are associated with higher patient and family uveitis knowledge

Background Chronic anterior uveitis is a sight-threatening complication of juvenile idiopathic arthritis (JIA) and a primary contributor to long-term morbidity in people with JIA. Levels of knowledge about uveitis among JIA patients and their parents are unknown. A survey of JIA patients and parents was conducted to assess knowledge about uveitis complications and recommended screening. Methods A survey was developed consisting of six demographic questions, six arthritis/uveitis history questions, and nine uveitis knowledge questions. The survey was administered to JIA patients age 14 and older and parents of patients with JIA at three pediatric rheumatology practices and online through the Patients, Advocates, and Rheumatology Teams Network for Research and Service (PARTNERS) network. ANOVA, chi-square and Fisher’s exact tests were used to look for relationships between survey questions and demographic variables. Results Thirty-three patients and 111 parents completed the survey. Overall, 17.4% reported a history of uveitis, and 89.6% had heard of uveitis. The mean composite knowledge score was 6.46 ± 2.6 out of 9. Patients and parents with a history of uveitis had higher composite knowledge scores than their counterparts without a uveitis history (p = 0.01 and p < 0.01, respectively). Parents whose rheumatologist reminded them about eye exams at every visit had higher knowledge of the risk of blindness (p = 0.04), the risk for uveitis when arthritis is controlled (p = 0.02), the need for ongoing eye exams when off of medications (p = 0.01), and had a higher overall score (p = 0.02) than those who were reminded at some visits or not at all. Conclusions JIA patients and parents report variable levels of knowledge regarding uveitis complications and recommended screening. Frequent discussion between the rheumatology provider and family about uveitis screening is associated with higher uveitis knowledge. Incorporating detailed and frequent education about uveitis into rheumatology clinic appointments may improve early uveitis detection and visual outcomes.

Utility of telemedicine in pediatric rheumatology during the COVID-19 pandemic

Background During the COVID-19 pandemic, telemedicine has provided an alternative to in-person visits for patients practicing social distancing and undergoing quarantine. During this time, there has been a rapid expansion of telemedicine and its implementation in various clinical specialties and settings. In this observational study we aim to examine the utility of telemedicine in a pediatric rheumatology clinic, for 3 months during the COVID-19 pandemic. Methods A review of outpatient pediatric rheumatology telemedicine encounters were conducted from April–June 2020. Telemedicine visits (n = 75) were compared to patients seen in practice over the prior year in office-based visits (March 2019–March 2020) (n = 415). Patient characteristics, information on no-show visits, completed visits, new patient or follow-up status, and if new patients had received a visit within 2 weeks of calling to schedule an appointment were analyzed by chart review. An independent sample t-test and Chi Square statistic was used to determine statical significance between the two groups. A two-proportion z-test was used to compare visit metrics. Results The percentage of new patients utilizing telemedicine (60%) was lower and statistically significant compared to the percentage of new patient office visits (84%) the previous year (p < 0.0001). There was no change in no-show rate between groups and patient characteristics were similar. Conclusions This study demonstrates a statistically significant decrease in new patient visits during the pandemic with telemedicine-only appointments compared to in-office visits over the previous year. This suggests a possible hesitation to seek care during this time. However, there was no significant difference among patient characteristics between telemedicine visits during the pandemic and during in-office visits in the previous year. In our experience, patient visits were able to be conducted via telemedicine with a limited physical exam using caregiver’s help during the pandemic. However, further studies will need to ascertain patient satisfaction and preference for telemedicine in the future.