12 research outputs found
Delays to Care in Pediatric Lupus Patients: Data From the Childhood Arthritis and Rheumatology Research Alliance Legacy Registry.
OBJECTIVE: Prompt treatment for lupus is important to prevent morbidity. A potential barrier to early treatment of pediatric lupus is delayed presentation to a pediatric rheumatologist. To better understand factors contributing to delayed presentation among pediatric lupus patients, we examined differences in demographic and clinical characteristics of lupus patients within the Childhood Arthritis and Rheumatology Research Alliance (CARRA) Legacy Registry with regard to time between symptom onset and presentation to a pediatric rheumatologist.
METHODS: We analyzed data from 598 CARRA Legacy Registry participants for differences between those who presented early (withinonset), between 1-3 months (typical presentation), with moderate delays (3-12 months), and with severe delays (≥1 year). Factors associated with early presentation, moderate delay, and severe delay were determined by multinomial logistic regression.
RESULTS: Forty-four percent of patients presented early, while 23% had moderate delays and 9% had severe delays. Family history of lupus, absence of discoid rash, and location in a state with a higher density of pediatric rheumatologists were associated with earlier presentation. Younger age, low household income (
CONCLUSION: Delays to care ≥1 year exist in a notable minority of pediatric lupus patients from the CARRA Legacy Registry. In this large and diverse sample of patients, access to care and family resources played an important role in predicting time to presentation to a pediatric rheumatologist
Giant coronary artery aneurysms in juvenile polyarteritis nodosa: a case report
Juvenile polyarteritis nodosa (PAN) is a rare, necrotizing vasculitis, primarily affecting small to medium-sized muscular arteries. Cardiac involvement amongst patients with PAN is uncommon and reports of coronary artery aneurysms in juvenile PAN are exceedingly rare. We describe a 16 year old girl who presented with fever, arthritis and two giant coronary artery aneurysms, initially diagnosed as atypical Kawasaki disease and treated with IVIG and methylprednisolone. Her persistent fevers, arthritis, myalgias were refractory to treatment, and onset of a vasculitic rash suggested an alternative diagnosis. Based on angiographic abnormalities, polymyalgia, hypertension and skin involvement, this patient met criteria for juvenile PAN. She was treated with six months of intravenous cyclophosphamide and high dose corticosteroids for presumed PAN related coronary vasculitis. Maintenance therapy was continued with azathioprine and the patient currently remains without evidence of active vasculitis. She remains on anticoagulation for persistence of the aneurysms. This case illustrates a rare and unusual presentation of giant coronary artery aneurysms in the setting of juvenile PAN
Myositis autoantibodies in a racially diverse population of children with idiopathic inflammatory myopathies
Abstract Background Juvenile idiopathic inflammatory myopathies (JIIMs) is a group of autoimmune disorders, including juvenile dermatomyositis (JDM), juvenile polymyositis (JPM) and overlap myositis, that are characterized by proximal muscle weakness, elevated levels of serum muscle enzymes, and pathognomonic skin findings. While the exact etiology of JIIMs is unclear, the presence of myositis specific autoantibodies (MSAs) have been associated with certain clinical phenotypes, organ involvement and disease prognosis. To date, there have been few studies of the associations between MSA presence and patient ethnicity. It is important to understand the extent to which ethnicity impacts disease manifestations, organ involvement and clinical outcomes. The goal of our study is to determine MSA and myositis associated autoantibody (MAA) presence, clinical phenotype, and disease course in a racially diverse population of pediatric patients with JIIMs. Methods Patients age 2–21 years with a prior diagnosis of JDM, JPM or overlap myositis, who had been tested for MSA/MAA, were eligible for study inclusion. Clinical and laboratory data were collected retrospectively via manual chart review in this single-center study. Descriptive statistics were performed to summarize each variable. Given the small sample size, non-parametric testing was performed using Fischer’s exact test, Wilcoxon rank sum test and Kruskal-Wallis test. Results Thirty one patients were included in the analysis. Race and ethnicity were self-reported as Hispanic (48.4%), white (25.8%), and Black (25.8%). The most prevalent MSAs were anti-MDA5 (25.8%), anti-p155/140 (22.6%) and anti-MJ (19.4%). Presence of autoantibodies (p = 0.04) and pulmonary disease (p = 0.03) were significantly higher in patients of Black or Hispanic descent compared with white descent. Anti-MDA5 antibodies, cutaneous ulceration, cardiopulmonary involvement, hospitalizations and one death were only reported in patients with Black or Hispanic descent. Patients with anti-MDA5 antibodies were more likely to be male (p = 0.04) and to have cutaneous ulceration (p = 0.02). Conclusions This study describes the prevalence of MSA/MAA in a racially diverse group of patients with JIIM and further delineates clinical phenotype and disease complications in these groups. We found a relatively high proportion of children with anti-MDA5 antibodies and described potentially worse clinical courses in children of Black or Hispanic descent. Further investigation is warranted to examine these findings
Impact of SARS-CoV-2 on the clinical presentation of juvenile idiopathic inflammatory myopathies
Abstract Background Growing evidence suggests that infection with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) may trigger idiopathic inflammatory myopathies (IIM). Few studies have described individual juvenile IIM (JIIM) cases following SARS-CoV-2 infection, and none explored its potential effects on JIIM clinical presentation. We aim to investigate the impact of SARS-CoV-2 on JIIM in patients diagnosed before and after the onset of the Coronavirus Disease 2019 (COVID-19) pandemic. Methods Patients diagnosed with JIIM before age 19 at The Children’s Hospital at Montefiore were included. Demographics, clinical and laboratory data, and evidence of SARS-CoV-2 exposure were collected retrospectively. Patients were grouped by pre-COVID-19 (before January 1, 2020) and post-COVID-19 (January 1, 2020, or later). Descriptive statistics were used to summarize each variable. Non-parametric testing was performed using Fischer’s exact test and Mann-Whitney U test. Results Fifty-one patients were included, 13 (25%) diagnosed in the post-COVID-19 era. Of these, 10 (77%) had onset of JIIM symptoms after January 1, 2020; 6 (60%) with known or suspected SARS-CoV-2 exposure. Though not statistically significant, post-pandemic patients tended to be older, female, and have non-specific cutaneous manifestations. Despite reported delays in care for other pediatric diagnoses during the pandemic, fewer post-pandemic patients had delays in JIIM diagnosis. Conclusions This is the first study to explore the effects of SARS-CoV-2 on JIIM clinical presentation. While our exploratory single-center study did not find significant differences in JIIM diagnosed pre- and post-pandemic, larger prospective multicenter studies are warranted to evaluate this association and to explore clinical variances over time
The impact of the COVID-19 pandemic on patients with juvenile idiopathic inflammatory myopathies
Abstract Background Throughout the COVID-19 pandemic, there have been concerns regarding the risks of infection in patients with autoimmune disease. In this study, we investigated the impact of the pandemic on patients with juvenile idiopathic inflammatory myopathies (JIIM). Methods Data were collected using a patient/caregiver survey via Research Electronic Data Capture (REDCap) database. Eligibility included JIIM diagnosis and current age less than 21 years old. Surveys were distributed via the CureJM organization, social media, Childhood Arthritis and Rheumatology Research Alliance (CARRA) network and Dr. Peter Dent Pediatric Rheumatology Bulletin Board. Results Eighty-four respondents accessed the survey, 70 (83%) consented to participate, and 54 out of 70 completed the full survey (77%). Twenty-seven out of 57 patients (47%) tested positive for COVID-19, with 7 (12%) testing positive more than once. Despite broad usage of immunosuppressive medications, 24 out of 27 (89%) reported mild symptoms with none requiring hospitalization. Four patients reported a flare of JIIM symptoms after COVID-19; three of whom held immunomodulatory medications during their infection. Thirty-seven out of 54 respondents (69%) reported vaccination against COVID-19, with 9 out of 37 (24%) reporting minor vaccine side effects and one reporting JIIM flare post vaccination. Twenty-one out of 54 (39%) respondents reported psychosocial concerns related to the COVID-19 pandemic. Conclusions Patients with JIIM, including those on multiple immunosuppressive medications, had mild symptoms related to COVID-19. Most patients tolerated COVID-19 vaccination well. Few patients had disease flare post-COVID-19 or vaccination. Mental health concerns were demonstrated in JIIM patients during the COVID-19 pandemic
Health-related quality of life in children with inflammatory brain disease
Abstract Objective To quantify the impact of inflammatory brain diseases in the pediatric population on health-related quality of life, including the subdomains of physical, emotional, school and social functioning. Methods This was a multicenter, observational cohort study of children (< 18 years of age) diagnosed with inflammatory brain disease (IBrainD). Patients were included if they had completed at least one Health Related Quality of Life Questionnaire (HRQoL). HRQoL was measured using the Pediatric Quality of Life Inventory Version 4.0 (PedsQL) Generic Core Scales, which provided a total score out of 100. Analyses of trends were performed using linear regression models adjusted for repeated measures over time. Results In this study, 145 patients were included of which 80 (55%) were females. Cognitive dysfunction was the most common presenting symptoms (63%), and small vessel childhood primary angiitis of the CNS was the most common diagnosis (33%). The mean child’s self-reported PedsQL total score at diagnosis was 68.4, and the mean parent’s proxy-reported PedsQL score was 63.4 at diagnosis. Child’s self-reported PedsQL scores reflected poor HRQoL in 52.9% of patients at diagnosis. Seizures or cognitive dysfunction at presentation was associated with statistically significant deficits in HRQoL. Conclusion Pediatric IBrainD is associated with significantly diminished health-related quality of life. Future research should elucidate why these deficits occur and interventions should focus on improving HRQoL in the most affected subdomains, in particular for children presenting with seizures and cognitive dysfunction
Comparing presenting clinical features of 48 children with microscopic polyangiitis (MPA) against 183 having granulomatosis with polyangiitis (GPA)
Objectives: To uniquely classify children with MPA, describe their demographics, presenting features, initial
treatments, and compare with GPA patients.
Methods: The European Medicines Agency (EMA) classification algorithm, applied by computation to
categorical data of patients recruited to A Registry for Childhood Vasculitis, censored to November 2015,
uniquely distinguished MPA from GPA patients who were classified with adult and pediatric-specific criteria.
Descriptive statistics were used for comparisons.
Results: 231 (64% female) of 440 patients fulfilled classification criteria for either MPA (n=48) or GPA (n=183);
respectively median time-to-diagnosis was 1.6 and 2.1 months, range to 39 and 73 months. Comparing MPA
versus GPA patients respectively they were significantly younger (median 11 versus 14 years); constitutional
features were equally common; pulmonary manifestations (44% versus 74%) were less frequent and less
severe (hemorrhage, oxygen-requiring, pulmonary failure); renal features (76% versus 83%) were similarly
frequent but tended towards greater severity (nephrotic-range proteinuria, dialysis-requirement, end-stage
disease). Airway/eye involvement was absent among MPA patients as these GPA-defining features preclude an
MPA diagnosis within the EMA algorithm. MPA and GPA patients respectively received combination therapy
with corticosteroids plus cyclophosphamide (69% and 78%) plus plasmapheresis (19% and 22%). Other
treatments in decreasing frequencies from 13% to 3% were rituximab, methotrexate, azathioprine, and
mycophenolate mofetil.
Conclusion: Younger onset age, and perhaps both gastrointestinal manifestations and worse kidney disease
seem to characterize children with MPA versus GPA. Delay in diagnosis suggests suboptimal
recognition. Compared to adults, initial treatments are comparable, but the complete reversal of female to
male prevalence ratios is provocative.Medicine, Faculty ofNon UBCMedicine, Department ofRheumatology, Division ofPediatrics, Department ofReviewedFacultyOthe
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Biologic therapies for refractory juvenile dermatomyositis: five years of experience of the Childhood Arthritis and Rheumatology Research Alliance in North America
Background: The prognosis of children with juvenile dermatomyositis (JDM) has improved remarkably since the 1960’s with the use of corticosteroid and immunosuppressive therapy. Yet there remain a minority of children who have refractory disease. Since 2003 the sporadic use of biologics (genetically-engineered proteins that usually are derived from human genes) for inflammatory myositis has been reported. In 2011–2016 we investigated our collective experience of biologics in JDM through the Childhood Arthritis and Rheumatology Research Alliance (CARRA). Methods: The JDM biologic study group developed a survey on the CARRA member experience using biologics for Juvenile DM utilizing Delphi consensus methods in 2011–2012. The survey was completed online by the CARRA members interested in JDM in 2012. A second survey was similarly developed that provided more opportunity to describe their experiences with biologics in JDM in detail and was completed by CARRA members in Feb 2013. During three CARRA meetings in 2013–2015, nominal group techniques were used for achieving consensus on the current choices of biologic drugs. A final survey was performed at the 2016 CARRA meeting. Results: One hundred and five of a potential 231 pediatric rheumatologists (42%) responded to the first survey in 2012. Thirty-five of 90 had never used a biologic for Juvenile DM at that time. Fifty-five of 91 (denominators vary) had used biologics for JDM in their practice with 32%, 5%, and 4% using rituximab, etanercept, and infliximab, respectively, and 17% having used more than one of the three drugs. Ten percent used a biologic as monotherapy, 19% a biologic in combination with methotrexate (mtx), 52% a biologic in combination with mtx and corticosteroids, 42% a combination of a biologic, mtx, corticosteroids (steroids), and an immunosuppressive drug, and 43% a combination of a biologic, IVIG and mtx. The results of the second survey supported these findings in considerably more detail with multiple combinations of drugs used with biologics and supported the use of rituximab, abatacept, anti-TNFα drugs, and tocilizumab in that order. One hundred percent recommended that CARRA continue studying biologics for JDM. The CARRA meeting survey in 2016 again supported the study and use of these four biologic drug groups. Conclusions: Our CARRA JDM biologic work group developed and performed three surveys demonstrating that pediatric rheumatologists in North America have been using multiple biologics for refractory JDM in numerous scenarios from 2011 to 2016. These survey results and our consensus meetings determined our choice of four biologic therapies (rituximab, abatacept, tocilizumab and anti-TNFα drugs) to consider for refractory JDM treatment when indicated and to evaluate for comparative effectiveness and safety in the future. Significance and InnovationsThis is the first report that provides a substantial clinical experience of a large group of pediatric rheumatologists with biologics for refractory JDM over five years.This experience with biologic therapies for refractory JDM may aid pediatric rheumatologists in the current treatment of these children and form a basis for further clinical research into the comparative effectiveness and safety of biologics for refractory JDM. Electronic supplementary material The online version of this article (doi:10.1186/s12969-017-0174-0) contains supplementary material, which is available to authorized users