Pediatric Rheumatology Research Articles

Transition Guide Dissemination to Foster Patient-Care Team Conversations: A Childhood Arthritis Rheumatology Research Alliance Transition Learning Collaborative Pilot Implementation Study.

Uptake of evidence-informed health care transition processes among pediatric rheumatologists is low despite poor outcomes of transition from pediatric to adult care. We piloted a learning collaborative model to implement transition guides. We dually assessed implementation outcomes and changes in reported patient-care team discussions about transition. This was a type II hybrid effectiveness-implementation pilot study of transition guide dissemination to patients at least 14 years old with rheumatic conditions across nine pediatric rheumatology centers in the Childhood Arthritis Rheumatology Research Alliance Transition Learning Collaborative. We evaluated implementation outcomes (feasibility, adaptations, and fidelity) and the proportion of patients surveyed that reported having discussions with their care team regarding transfer planning. Six sites were retained through the COVID-19 pandemic (below 70% target). Five out of six sites contributed outcome data (met 80% target) but with substantial heterogeneity in how transition guides were shared (eg, in-person, electronic messages, and posted flyers), and data were collected. The pooled proportion of respondents having discussed transfer planning with their care team was 39% preimplementation (n = 239; 95% confidence interval [CI] 32%-46%) and 55% postimplementation (n = 864; 95% CI 36%-73%). After implementation, there were significant increases in the likelihood of respondents recalling receiving a transition guide (odds ratio [OR] 2.58, 95% CI 1.35-4.92) and discussing transfer planning (OR 2.14, 95% CI 1.30-3.52), adjusted for age and site of care. Transition guide dissemination is a simple intervention associated with increased awareness among young people with rheumatic conditions and discussions with their care team about transition preparation. The learning collaborative model facilitated identification of several dissemination strategies adaptable to site-specific resources.

Automated mental health screening in pediatric lupus: associations with disease features and treatment.

Patients with childhood-onset systemic lupus erythematosus (c-SLE) have higher rates of depression than their peers, which has been associated with worse medical outcomes. Therefore, it is imperative that their mental health be addressed. We utilized quality improvement (QI) methodology to automate mental health screening for patients with lupus within a pediatric rheumatology clinic. The retrospective cohort study aims to evaluate the association between mental health screening outcomes and demographics, medications, and disease activity measures in patients with childhood lupus. The mental health QI team at a quaternary pediatric rheumatology center implemented an automated process for mental health screening in patients with c-SLE. Patients seen between 2017 and June 2023 with a diagnosis of c-SLE were identified using International Classification of Disease -Clinical Modification (ICD-CM) codes. Disease activity was assessed with the Systemic Lupus Erythematosus Disease Activity Index 2000 (SLEDAI 2K). Medications were identified on outpatient and inpatient orders for conventional synthetic and biologic disease-modifying anti-rheumatic drugs, hydroxychloroquine, corticosteroids, and aspirin. Mental health screening was accomplished with the Patient Health Questionnaire (PHQ). Descriptive statistics, univariate and multivariate linear regression were used. Between January 2017 and June 2023, 117 patients with c-SLE (41% with lupus nephritis) completed 534 total screenings. Each patient completed PHQ screenings, a median of 5 [interquartile range 2, 6] times. Screening increased when the screening process was automated. Those who were Black, female, or prescribed leflunomide, mycophenolate, and corticosteroids had higher PHQ scores. Mental health support is essential for patients with chronic rheumatologic diseases such as SLE. Sustainable processes for quickly identifying depression are needed for optimal care of patients with SLE. Our process of automated, streamlined mental health screening successfully increased the screening of patients with SLE at every visit and led to timely interventions for positive PHQ scores. Higher PHQ scores were correlated with patients on leflunomide, mycophenolate, and corticosteroids. Future research should identify modifiable risk factors for high PHQ scores that the medical team can target.

12431 14-year-old Presenting With Thrombocytopenia-Associated Multi-Organ Failure In The Setting Of Diabetic Ketoacidosis/Hyperosmolar Hyperglycemic Syndrome

Abstract Disclosure: N.C. Gunaratne-Breaux: None. D. Deplewski: None. Title: 14-Year-Old Presenting with Thrombocytopenia Associated Multi-Organ Failure in the setting of Diabetic Ketoacidosis/Hyperosmolar Hyperglycemic Syndrome Background: Coagulation complications are rare in hyperglycemia emergencies in children and adolescents. In patients presenting with severe and atypical hyperglycemia emergencies, special considerations need to be made to rule out life-threatening coagulopathy. Clinical Case: A 14-year-old male with history of Type 1 Diabetes presented in severe Diabetic Ketoacidosis/Hyperosmolar Hyperglycemic Syndrome overlap. Initially had severe hypotension and altered mental status concerning for cerebral edema. Initial venous blood gas showed pH of 6.82, pCO2 17.1, and HCO3 2.8, serum glucose was 1375 mg/dL, serum ketones >7.00 mmol/L, and serum osmolality was 384 mOsm/kg. Once insulin drip was started, glucose, ketones, and serum osmolality improved, but patient continued to be encephalopathic and had worsening tachypnea and desaturations. Patient was eventually intubated. After intubation, patient’s acidosis improved, but patient developed kidney failure (prompting initiation of dialysis), liver injury, decreased cardiac function, and high inflammatory state. A comprehensive multi-specialty team including pediatric intensive care, infectious diseases, rheumatology, neurology, and cardiology were involved in the care. On day three of admission, patient had multiple areas of ischemia on fingertips and ear and clotting of multiple IV and dialysis catheters, prompting a coagulopathy evaluation. Labs showed microcytic anemia (hemoglobin 10.0 g/dL; mean corpuscular volume 75fL), thrombocytopenia (platelet count 17 10e3/uL), coagulopathy (prothrombin time 16.8 sec, INR 1.3, prolonged thrombin time 48.8 sec), and elevated ferritin (507 ng/mL). Given labs and multi-organ involvement, determined by hematology to be Thrombocytopenia Associated Multi-Organ Failure (TAMOF). Patient was started on plasmapheresis and had dramatic improvement – was eventually extubated and returned to neurologic baseline without any notable deficits. Multi-specialty team ruled out all other possible causes of TAMOF; determination that the TAMOF developed secondary to DKA/HHS. Conclusion: Hyperglycemia emergencies can lead to a hyperinflammatory state that can lead to disruption of the coagulation cascade, including disseminated intravascular coagulopathy or thrombotic thrombocytopenia purpura. There have been rare reports of thrombocytopenia associated multi-organ failure provoked by DKA, thought secondary to critical illness mediated low ADAMST13 levels. This is a novel case of TAMOF caused by DKA/HHS overlap syndrome. It is important to screen for coagulopathy in cases of patients with DKA or DKA/HHS who do not show clinical improvement with resolution of ketosis and hyperosmolarity. Presentation: 6/2/2024

Paediatric rheumatology in Nigeria: history, challenges and the future.

Pediatric rheumatology is a relatively new subspecialty in Nigeria. For many years, rheumatic disease had not been well-recognized or studied in Nigeria, so there has been a low suspicion index. The clinical presentation of most pediatric rheumatic diseases (PRDs) mimics non-rheumatic diseases making it a diagnostic challenge most of the time. The story has changed in Lagos since the creation of a pediatric rheumatology unit at the Lagos State University Teaching Hospital. There is now a high index of suspicion for these diseases in the hospital but no one knows about what is happening in the other 35 states of the country who do not have a pediatric rheumatologist. Major challenges being faced presently are poor awareness among healthcare workers and the community, high cost of investigations and medications, lack of pediatric rheumatologists in most hospitals in the country, lack of pediatric rheumatology training centers for both undergraduate and postgraduate training, and lack of research data. The healthcare community in Nigeria is looking forward to a future where pediatric rheumatology will be highly recognized and established.

Childhood-onset versus adult-onset Takayasu arteritis: A study of 239 patients from China

Objective: We aimed to compare clinical features, vascular involvement, disease activity, and management between Chinese patients with childhood-onset Takayasu arteritis (cTAK) and adult-onset Takayasu arteritis (aTAK).Methods: In total, 239 patients with TAK from the pediatric and adult rheumatology departments of two tertiary care centers were retrospectively evaluated. Data on demographic characteristics, laboratory results, disease activity, vascular involvement, and management regimens were collected and compared between the cTAK and aTAK patients.Results: In total, 85 cTAK and 154 aTAK patients were enrolled. There was a significant difference in the female/male ratio between the cTAK and aTAK groups (2.3:1 vs. 10.8:1, P < 0.001). Fever, hypertension, arrhythmia, and heart failure were more frequent in the cTAK group. The median Indian Takayasu Clinical Activity Score-scores were significantly higher in the cTAK group compared to the aTAK group (5 vs. 3, P = 0.004). The prevalence of supra-aortic artery involvement was significantly higher in the aTAK group than in the cTAK group (P < 0.05). The rate of involvement of coronary and renal arteries was significantly lower in the aTAK group than in the cTAK group (P < 0.05). Compared to the aTAK patients, the cTAK patients were more likely to be treated with biological agents (76.5% vs. 9.1%, P < 0.001).Conclusion: cTAK patients had more severe disease and inflammation. Coronary and renal artery involvement was more common among cTAK patients, whereas supra-aortic artery involvement was more common in aTAK patients increasing their risk of cerebral infarction. Biologics were used more frequently in cTAK patients.

Modern-day limeys: Clinical, laboratory, and radiological profile of 10 paediatric scurvy patients

ABSTRACT Scurvy is often considered a disease of the past and well described in children with neurodevelopment and autistic spectrum disease. Clinicians overlook the diagnosis of scurvy, leading to unwarranted laboratory investigations and, unfortunately, significant delays in diagnosis. This study aims to describe 10 cases of scurvy in a tertiary hospital setup with their clinical profile, comorbidities, radiological, and subsequent disease course in children presenting to the pediatric rheumatology department at Amrita Hospital, Kochi, from 2017 to 2022. Demographic, imaging, and associated comorbid conditions including neuropsychiatric abnormalities were documented. They were all reviewed in 2 weeks for improvement of symptoms. A total of 10 children (3 females) were included in this study. The disease manifested predominantly in early childhood (median age: 5.5 years). All patients had unexplained bone pain and inability to bear weight. The referral diagnosis of 8/10 patients was juvenile idiopathic arthritis. Two patients had autism as a comorbidity. Selective eating habits and food faddism were present in 2/10 children. All patients have made a full functional recovery at review. All patients had imaging findings suggestive of scurvy. Pediatricians and rheumatologists alike must consider scurvy in a child with unexplained bone pain and symptoms masquerading as primary rheumatological diseases. Selective eating habits need to be treated with timely and appropriate psychological rehabilitation and dietary education. Resolution of symptoms and radiographic features with vitamin C supplementation is the strongest evidence for scurvy.

Barriers to Pediatric Rheumatology Care: A Survey of Pediatric Clinical Practices at Sheikh Khalifa Medical City in Abu Dhabi, United Arab Emirates.

Background Access to pediatric rheumatology (PR) is limited in Abu Dhabi, United Arab Emirates, with only three trained pediatric rheumatologists in Abu Dhabi. However, the limited access and current levels of PR care in the Abu Dhabi workforce have not yet been formally assessed. The objective of this study was to evaluate the confidence in the delivery of PR patient care and the need for a structured PR training program among pediatricians. Methods The anonymous web-based Google Forms survey (Google LLC, Mountain View, CA, USA) included 16 items on PR training programs and patient care. The survey was sent to physicians in the pediatric department in Sheikh Khalifa Medical City, Abu Dhabi, through June 2024. Results Among the 54 participants, the majority were general pediatricians (70.4%). Most participants encountered PR patients monthly (51.9%) or weekly (29.6%), yet 87% had less than one year of experience in PR. Confidence levels in examining, investigating, and managing PR patients were generally low to moderate, while physicians primarily reported high confidence in referring patients. A significant need for a structured PR training program at SKMC was identified, with 92.6% of participants advocating for its implementation. Conclusions The majority of pediatricians do not feel confident in examining, investigating, and managing pediatric patients with rheumatic diseases. There is a need for a structured PR program at Sheikh Khalifa Medical City, Abu Dhabi, due to a significant shortage in PR physicians.

Transition readiness assessment in Portuguese adolescents and young adults with pediatric-onset rheumatic diseases: a single-center study.

In this study, we aimed to assess the transition readiness levels amongst patients with childhood-onset rheumatic diseases. Additionally, we sought to identify and analyze predictive factors associated with better transition readiness skills in adolescent and young adult (AYAs) patients. This is a monocentric cross-sectional study that includes patients between 14 and 26 years of age who attended outpatient pediatric and young adult rheumatology appointments between October and December of 2023 and that were diagnosed with an immune-mediated rheumatic disease before reaching 18 years of age, with at least 1 year of disease duration. Patients were presented with a questionnaire that contained demographic and clinical questions, TRACS (Questionário de Preparação da Transição para a Autonomia nos Cuidados de Saúde) questionnaire - a validated Portuguese version of the Transition Readiness Assessment Questionnaire (TRAQ), and Hospital Anxiety and Depression Scale (HADS) questionnaire. Data was analyzed to assess the significant associations between the different variables and transition readiness outcome measured by the TRACS. Descriptive statistics, statistical comparisons and logistic regression analysis were performed. A total of 69 patients with a median age of 20 [17.5-22.5] were included in this study. The median TRACS score was 4.41 [4.09-4.74]. Significantly higher TRACS scores were observed in patients who were female, 18 years of age or older, had a higher level of education, were employed, had active disease or that belonged to middle-class (when compared to patients belonging to upper- middle class). The logistic regression analysis demonstrated that being a female or having an educational status equal to 12th grade or superior emerged as predictors of higher transition readiness levels. Our study identified female sex and higher level of education as predictors of increased transition readiness levels. Therefore, healthcare providers should consider these variables when assessing patients for transition readiness and focus on improving transition process, especially in male and less educated AYAs.

Evaluating treatment practices and challenges in systemic Juvenile Idiopathic Arthritis: a comprehensive survey analysis

ObjectiveThis study aims to assess current diagnostic and management for systemic Juvenile Idiopathic Arthritis (sJIA) among physicians, evaluate the challenges encountered in diagnosis and treatment, and identify the educational needs and professional development engagements of physicians managing sJIA.MethodsA nationwide survey was conducted from November 2023 to March 2024 across tertiary and secondary pediatric and general hospitals in China. The survey targeted physicians with at least three years of specialty experience, resulting in 310 valid responses from 25 provinces, autonomous regions, and municipalities. The survey collected data on diagnostic practices, treatment approaches, and professional development related to sJIA. Data collection was facilitated through WeChat, and statistical analysis was performed using descriptive statistics. Ethical approval was obtained from the Ethics Committee of Beijing Children’s Hospital, with informed consent provided electronically by participants.ResultsThe survey indicated that all physicians encountered suspected or confirmed cases of sJIA, highlighting its prevalence and the diagnostic challenges associated. Regarding diagnostic standards, 53.9% of physicians used the “Consensus on the Diagnosis and Treatment of sJIA and Macrophage Activation Syndrome,” 18.1% followed the International League of Associations for Rheumatology (ILAR) standards, and 24.8% adhered to the Pediatric Rheumatology International Trials Organization (PRINTO) standards. In treatment strategies, glucocorticoids and IL-6 receptor monoclonal antibodies were extensively used, with the latter receiving “excellent” and “satisfactory” ratings of 46.5% and 36.1%, respectively, demonstrating high efficacy and acceptance. Main challenges included high treatment costs, complexity of diagnosis, patient compliance issues, and potential long-term side effects of biologics. Additionally, 126 doctors (40.7%) actively participated in more than three academic conferences or systematic learning courses related to sJIA, indicating a strong demand for ongoing education, particularly in new treatment developments and diagnostic skills.ConclusionThe findings emphasize the necessity for standardized diagnosis and customized treatment plans tailored to patient-specific conditions in managing sJIA.Key Points• The survey highlights the prevalence and clinical challenges of sJIA among physicians, emphasizing the importance of vigilant diagnosis, multi-system involvement, and differential diagnosis to improve treatment outcomes and patient quality of life.

Clinical outcomes of tocilizumab therapy in polyarticular and systemic juvenile idiopathic arthritis: a single-center analysis (2018-2022)

AbstractThis single-center retrospective study aimed to evaluate the safety and efficacy of Tocilizumab (TOC) in children with polyarticular (pJIA) and systemic juvenile idiopathic arthritis (sJIA) who exhibited inadequate responses to disease-modifying antirheumatic drugs (DMARDs) and biological modifiers (bDMARDs). Conducted at the Department of Pediatric Rheumatology, National Institute of Geriatrics, Rheumatology, and Rehabilitation in Warsaw, Poland, between 2018 and 2022, the study enrolled 29 patients diagnosed with JIA based on International League of Associations for Rheumatology (ILAR) criteria. The cohort comprised 13 sJIA and 16 pJIA patients, aged 2-18 years, receiving TOC treatment for 24 months. Safety and efficacy assessments included analysis of medical documentation, laboratory tests (CRP, ESR, WBC), and Juvenile Disease Activity Score (JADAS) 71 at baseline, 3, 6, 12, and 24 months post-treatment initiation. Significant reductions in CRP and ESR levels were observed within three months, with sustained improvement in JADAS71 scores over the 24-month treatment period. A substantial majority, 73.07% of patients, achieved inactive disease status or low disease activity, highlighting T0C’s effectiveness. Adverse effects were manageable, predominantly involving mild to moderate infections, with no serious adverse events or instances of macrophage activation syndrome (MAS). The study also noted a steroid-sparing effect of TOC, with a reduction in glucocorticoid usage among the cohort. Tocilizumab demonstrates substantial efficacy in reducing disease activity and improving clinical outcomes in patients with pJIA and sJIA, coupled with a favorable safety profile. These findings reinforce the role of TOC as a critical component of the therapeutic arsenal for JIA, offering hope for improved quality of life and disease management in this patient population.

The role of whole body magnetic resonance imaging in pediatric rheumatology

The role of whole body magnetic resonance imaging in pediatric rheumatology

How to diagnose macrophage activation syndrome early: own experience of the Department of Paediatric Cardiology and Rheumatology in Lodz

How to diagnose macrophage activation syndrome early: own experience of the Department of Paediatric Cardiology and Rheumatology in Lodz

A rare disease with many faces: A multicenter registry of IgG4-related disease in children

Abstract Objectives We aimed to report the characteristics of pediatric IgG4-related disease (IgG4-RD) through a multicentre registry, to assess disease clusters, and to evaluate the performances of the 2019 American College of Rheumatology and European League Against Rheumatism (ACR/EULAR) classification criteria and the 2020 revised comprehensive diagnostic (RCD) criteria in this cohort. Methods Data of IgG4-RD patients in 13 pediatric rheumatology centers were recorded to a web-based registration system. The diagnosis of IgG4-RD was made according to the 2011 comprehensive diagnostic criteria. Results Thirty-five children (19 females and 16 males) with IgG4-RD were enrolled. The median age at diagnosis was 13.3 (25p-75p; 9.9–15.2) years. The most common organ involvement was the eye (n = 21, 60%), followed by lymph nodes (n = 12, 34.3%), musculoskeletal system (n = 12, 34.3%), and neurological system (n = 9, 25.7%). We identified three clusters in our study cohort: those with eye involvement (n = 11, 31.4%), those with eye involvement and neurological findings (n = 15, 42.9%), and those with pancreato-hepatobiliary disease and lymph node involvement (n = 9, 25.7%). Serum IgG4 levels were high in 19 out of 28 patients (67.8%). All patients except one received corticosteroid treatment, and azathioprine was the most preferred drug as a steroid-sparing agent. The sensitivities of the 2019 ACR/EULAR classification criteria and the 2020 RCD criteria were 5.7% and 88.5%, respectively. Conclusion IgG4-RD has a wide variety of clinical manifestations, however in children the most common presentation was orbital involvement. The 2020 RCD criteria had a better performance whereas the 2019 ACR/EULAR classification criteria performed poorly in pediatric patients.

Development and Delivery of an Integrated Digital Health Care Approach for Children With Juvenile Idiopathic Arthritis: Usability Study.

Juvenile idiopathic arthritis (JIA) is a chronic inflammatory disorder with no cure. Most children are prescribed several medications aimed at controlling disease activity, managing symptoms, and reducing pain. Physical activity is also encouraged to retain musculoskeletal function. The primary determinants of treatment success are maintaining long-term adherence, ongoing monitoring by a pediatric rheumatologist, and involvement of an interdisciplinary team. To support these goals, a new digital intervention was developed, InteractiveClinics, which aimed to prompt children to take their medications, report pain levels, and increase their physical activity. This study aims to evaluate the usability of InteractiveClinics among children with JIA. As part of this pediatric cross-sectional study, 12 children were asked to wear a smartwatch for 2 weeks, which was synchronized to the InteractiveClinics phone app and web-based platform. Personalized notifications were sent daily to the watch and phone, to prompt and record medication adherence and pain level assessment. Physical activity was automatically recorded by the watch. At the end of the study, all children and parents completed a postintervention survey. Written comments were also encouraged to gain further feedback. Descriptive statistics were used to summarize the survey results, and all qualitative data underwent thematic analysis. Twelve children aged 10 to 18 years (mean 14.2, SD 3.1 years; female: n=8, 66.7%) and 1 parent for each child (n=12; female: n=8, 66.7%) were enrolled in the study. Based on the highest and lowest agreement areas of the survey, most children and parents liked the smartwatch and web-based platform; they found it easy to learn and simple to use. They were also satisfied with the pain and physical activity module. However, usability and acceptability barriers that hindered uptake were identified in the phone app and medication module. Children required a unique in-app experience, and their suggestive improvements included more personalization within the app; simplification by removing all links not relevant to antirheumatic medications; flexibility in response times; improved conferment through gamification; additional comment fields for the input of more data, such as medication side effects or pain-related symptoms; more detailed graphical illustrations of the physical activity module, including a breakdown of metrics; and importantly, interconnections between modules, because medication adherence, pain levels, and physical activity can each influence the other. They were, overall, improving usefulness for children and parents. The usability of InteractiveClinics was positive. Children and parents liked the watch and web-based platform and were satisfied with the pain and physical activity module. However, children wanted a unique in-app experience through more personalization, simplification, flexibility, conferment, comment fields, graphical illustrations, a breakdown of metrics, and interconnections. Certainly, inclusions are needed to promote user adoption and advancement of new validated digital health interventions in pediatric rheumatology, to support the delivery of integrated care.

14-month-old female with anti-MDA5 juvenile dermatomyositis complicated by liver disease: a case report

BackgroundJuvenile Dermatomyositis (JDM) is a rare disorder with subtypes associated with different myositis-specific antibodies (MSAs) including anti-MDA5. Hepatic involvement in JDM is rare and has not previously been documented in anti-MDA5 JDM. There is a lack of formal research on treatment protocols for anti-MDA5 JDM, though tofacitinib is a highly regarded emerging therapy.Case presentationA previously healthy 14-month-old Hispanic female presented to a pediatric rheumatology clinic with eight months of worsening rash, weakness, periorbital edema, intermittent fevers, and weight loss. Her physical exam was notable for fever, thinning of hair, heliotrope rash, periorbital edema, violaceous macules on her bilateral elbows, forearms, arms, and knees, arthritis, Gottron’s sign, and hepatomegaly. The patient was admitted, and symptoms progressed to include hypoxemia. Subsequent workup was notable for ground glass opacities of bilateral lung fields on chest CT, myositis visualized on MRI and confirmed with muscle biopsy, and liver biopsy showing nonspecific signs of liver injury. After a thorough infectious disease workup to rule out concomitant infection, the patient was started on high-dose steroids and induction with cyclophosphamide. She responded well with disease remission maintained with tofacitinib in the outpatient setting.Discussion and conclusionsOur patient is notable due to her young age at presentation, histopathologically confirmed liver injury, and response to treatment. The case adds to the growing body of literature supporting tofacitinib for anti-MDA5 JDM in the pediatric population. Future research can better standardize effective treatment protocols and define the mechanism of liver involvement. For patients with nonspecific liver injury, muscular, and cutaneous disease, anti-MDA5 JDM should be considered in the differential diagnosis with treatment options including tofacitinib for confirmed cases.

Protracted Febrile Myalgia Syndrome: A Rare and Difficult Manifestation of Familial Mediterranean Fever.

Protracted febrile myalgia syndrome (PFMS) is characterized by severe myalgia, fever, abdominal pain, and arthralgia/arthritis episodes lasting for several weeks in patients with familial Mediterranean fever. Treatment options include nonsteroidal anti-inflammatory drugs, corticosteroids, and anti-interleukin-1 therapy. This study aimed to share our experiences of PFMS so as to shed light on this rare and elusive condition. This cross-sectional analysis included 17 patients diagnosed with PFMS at our pediatric rheumatology clinic between January 2018 and September 2023. In our clinic, 17 (1%) of 1663 familial Mediterranean fever patients presented with PFMS, and it was the initial manifestation in 10 patients (58.8%) in the cohort. Eight of the 17 patients had an M694V homozygous mutation in the MEFV gene. A magnetic resonance imaging showed myositis and fasciitis in just 1 patient, and myositis alone was evident in 5 others. Symptoms improved in 2 patients with nonsteroidal anti-inflammatory drugs, whereas prednisolone improved symptoms in 12 patients and anakinra was required in 3 patients. Patients who received anakinra had another severe attack and required long-term anakinra or canakinumab. Syndrome for PFMS is difficult to recognize as it can sometimes be the first manifestation of familial Mediterranean fever. The syndrome is not accompanied by fever in some patients, even though the word febrile is part of its name. Most patients respond dramatically to nonsteroidal anti-inflammatory drugs or corticosteroids. In some patients with PFMS, long-term anakinra or canakinumab treatment may be more useful in preventing severe attacks of PFMS than short-term (5 to 7 days) anakinra treatment.

The 2024 British Society for Rheumatology guideline for management of systemic sclerosis-executive summary.

This guideline was developed according to the British Society for Rheumatology Guidelines Protocol by a Guideline Development Group comprising healthcare professionals with expertise in SSc and people with lived experience, as well as patient organization representatives. It is an update of the previous 2015 SSc guideline. The recommendations were developed and agreed by the group and are underpinned by published evidence, assessed by systematic literature review and reinforced by collective expert opinion of the group. It considers all aspects of SSc including general management, treatment of organ-based complications, including cardiopulmonary, renal and gastrointestinal tract manifestations, as well as broader impact of disease. Whilst it is focused on adults with SSc we expect that the guideline will be relevant to people of all ages and expert input and review by paediatric rheumatologists and other relevant specialists considered where the guideline was, or may not be, applicable to young people with SSc and juvenile-onset disease. In addition to providing guidance on disease assessment and management the full guideline also considers service organization within the National Health Service and future approaches to audit of the guideline. The lay summary that accompanies this abstract can be found in Supplemental information 1.

The 2024 British Society for Rheumatology guideline for management of systemic sclerosis.

This guideline was developed according to the British Society for Rheumatology Guidelines Protocol by a Guideline Development Group comprising healthcare professionals with expertise in SSc and people with lived experience, as well as patient organization representatives. It is an update of the previous 2015 SSc guideline. The recommendations were developed and agreed by the group and are underpinned by published evidence, assessed by systematic literature review and reinforced by collective expert opinion of the group. It considers all aspects of SSc including general management, treatment of organ-based complications, including cardiopulmonary, renal and gastrointestinal tract manifestations, as well as broader impact of disease. Whilst it is focused on adults with SSc we expect that the guideline will be relevant to people of all ages and expert input and review by paediatric rheumatologists and other relevant specialists considered where the guideline was, or may not be, applicable to young people with SSc and juvenile-onset disease. In addition to providing guidance on disease assessment and management the full guideline also considers service organization within the National Health Service and future approaches to audit of the guideline. The lay summary that accompanies this abstract can be found in Supplemental information 1.

Proceedings of the 31st European Paediatric Rheumatology Congress: part 1

Proceedings of the 31st European Paediatric Rheumatology Congress: part 1

Proceedings of the 31st European Paediatric Rheumatology Congress: part 2

Proceedings of the 31st European Paediatric Rheumatology Congress: part 2