Our aim was to report our experiences of pediatric macrophage activation syndrome (MAS) patients treated with anakinra and to review previous studies reporting anakinra treatment in pediatric MAS ...patients associated with systemic juvenile idiopathic arthritis (sJIA) or autoinflammatory diseases (AIDs). The study group consisted of pediatric MAS patients due to sJIA or AIDs, followed up in the Pediatric Rheumatology Unit of Hacettepe University between January 2015 and January 2017 and treated with anakinra (anti-IL1). We conducted a systematic review of the published literature involving pediatric MAS patients associated with sJIA or AIDs, treated with anakinra. Thirteen sJIA patients and two AIDs patients were included the study. Nineteen MAS episodes were observed in 15 patients. Anakinra (2 mg/kg/day) was started in with a median 1 day after admission. Clinical symptoms resolved, and laboratory findings normalized within median (minimum–maximum) 2 (1–4) and 6 (4–9) days, respectively after the introduction of anakinra. Steroid treatment was stopped in a median of 10 (4–13) weeks after the initiation of anakinra treatment. Patients were followed up for a median of 13 (6–24) months. Two patients developed recurrent MAS episodes when the anakinra dose was reduced, while the other patients achieved remission. In the literature review, we identified nine articles, describing 35 pediatric MAS patients associated with sJIA or AIDs and treated with anakinra. Except for two, all the patients reached remission. Our study and systematic literature review may help to improve the knowledge on the role of anakinra treatment in the management of MAS.
Purpose
To evaluate meibomian gland loss and its possible association with disease duration and activity in Juvenile Systemic Lupus Erythematosus (JSLE) patients’ without dry eye symptoms or signs.
...Study design:
Prospective clinical study.
Methods
Ten eyes of 10 JSLE patients were evaluated using the Systemic Lupus Erythematosus Disease Activity Index (SLEDAI) and 14 eyes of 14 healthy controls were also enrolled. Ocular Surface Disease Index (OSDI) questionnaire and Schirmer I test were performed. Lid margin score, meibum quality and expressibility scores were evaluated. Noninvasive first breakup time (NIF-BUT) and noninvasive average breakup time (NIAvg-BUT), meibomian gland dropout area (MGDA) and meibography scores were evaluated using non-contact meibography (Sirius; CSO).
Results
There was no significant difference between the JSLE patients and the healthy controls in the OSDI, NIF-BUT, NIAvg-BUT and Schirmer I tests. Also lid margin score, meibum quality and expressibility scores were not significantly different between the groups. However, JSLE patients had increased upper and lower lid MGDA and increased upper lid, lower lid and total meibography scores compared to the healthy subjects. Furthermore, the duration of JSLE showed a high positive correlation with upper and lower lid MGDA and meibography scores.
Conclusion
Meibomian gland loss could be observed in JSLE patients with no clinical signs and symptoms of dry eye. Considering the longer life expectancy of children, the positive correlation of disease duration with the meibomian gland reveals the importance of routine eye examinations from the diagnosis of the disease.
Inflammasomes are important elements of the innate immune defense. The most common autoinflammatory syndromes, as well a number of rare ones, are due to hereditary defects in the inflammasomes, hence ...are called inflammasomopathies. The recent clinical advances in these diseases will be reviewed, with special emphasis on reflecting the international collaborative work in the field. Recent recommendations for familial Mediterranean fever, cryopyrin-associated periodic syndromes and hyper-IgD syndrome/mevalonate kinase deficiency will be presented and diagnostics tests, treatment alternatives and follow-up recommendations will be summarized. The other rare inflammasomopathies will be briefly discussed based on clinical features; these diseases are pyogenic arthritis, pyoderma gangrenosum and acne, NLRC4-related macrophage-activation syndrome of enterocolitis, mutations in NLRP12 that cause hereditary periodic fever syndromes (familial cold inflammatory syndrome 2) and NLRP1-associated autoinflammation with arthritis and dyskeratosis.
Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease manifesting with phenotypic heterogeneity. The phenotype–genotype correlation is not established clearly yet. ...Furthermore, some comorbidities such as vasculitis and inflammatory arthritis may accompany FMF. Herein, we aimed to define phenotype–genotype correlation and comorbid diseases of children with FMF. The medical records of 1687 children diagnosed and followed up as FMF were reviewed retrospectively. Disease severity was assessed by PRAS score. A total of 1687 children (841 girls, 846 boys) were involved in the study. The mean ± standard deviation of current age, age at symptom onset, and age at diagnosis were 13.1 ± 5.4, 5.4 ± 4, and 8 ± 4.2 years, respectively. Median (min–max) follow-up period was 3 (0.5–18) years. Among them, 118 (7%) patients had at least one concomitant disease and 72% of them were carrying at least one
M694V
mutation. Patients with a concomitant disease expressed a more severe course of disease when compared to ones without a concomitant disease (23.7% vs 8.8%,
p
< 0.001). Children carrying homozygous
M694V
mutation had significantly earlier age of disease onset and severe disease course (
p
< 0.001). Forty-four patients (2.6%) were colchicine resistant and most of them were carrying homozygous
M694V
mutation. Sixteen colchicine-resistant patients were treated with anakinra while 28 received canakinumab. Juvenile idiopathic arthritis (JIA) and immunoglobulin A vasculitis were the most commonly seen associated diseases and the patients with a concomitant disease demonstrated more severe course. This is the largest pediatric cohort studied and presented since now. We confirmed that carrying
M694V
mutation is associated both with a severe disease course and a predisposition to comorbidities.
We aimed to comprehensively analyse the available literature to identify the unmet requirements in transitional programs tailored specifically for patients diagnosed with JIA.
According to published ...guidance on narrative reviews, a systematic review of the literature on transitional care in rheumatology was conducted. Pertinent documents were collected from reputable databases, such as Web of Science, Scopus, and MEDLINE/PubMed. The search encompassed literature published from the inception of each database until January 2023.
In this study, a comprehensive analysis of the findings of 34 studies was conducted. Among these, 12 studies focused on assessing the readiness of adolescents and young adults diagnosed with JIA. Additionally, 18 studies examined the effectiveness of structured transition programs in terms of adherence and satisfaction. Finally, 4 studies investigated disease-related outcomes in this population.
The need for transitioning children with rheumatic diseases to adult rheumatology services for continued care is clearly evident. However, the absence of established best practice guidelines presents a challenge in facilitating this transition effectively. Although several scoring systems have been proposed to ensure organized and seamless transfers, a consensus has not yet been reached. Furthermore, the socio-economic and cultural variations across countries further complicate the development of universal guidelines for transitioning children with rheumatic diseases. To address these concerns, our objective in conducting this literature review was to emphasize the significance of this issue and identify the specific requirements based on the unmet needs in the transition process.
Periodic fever syndromes (PFS) are a group of autoinflammatory diseases characterized by repeated febrile episodes and systemic inflammation. The most common monogenic periodic fever syndromes are ...familial Mediterranean fever, mevalonate kinase deficiency/hyper immunoglobulin D syndrome, cryopyrin-associated periodic syndrome, and tumor necrosis factor receptor-associated periodic syndrome. Although fever is the predominant feature of PFS, other systems, including the cardiovascular system, may be involved in the disease process. This review focuses on cardiovascular risks and issues in monogenic PFS. Cardiovascular involvement may occur as a disease manifestation, association, or result of complications or a drug’s adverse effects in monogenic PFS. Pericarditis seems to be a feature of PFS. Patients with recurrent pericarditis or pericarditis resistant to conventional treatment should be evaluated for PFS. Amyloidosis is the most severe complication of PFS, increasing the risk of cardiac morbidity. Furthermore, ongoing inflammation may result in early atherosclerosis. Therefore, assessing cardiovascular risks in PFS patients should be considered a part of routine care.
Key points
• Pericarditis is the most common cardiac involvement of monogenic periodic fever syndromes (PFS), while some forms may present with myocarditis.
• Amyloidosis, the most significant complication of PFS, may lead to deterioration in cardiac functions.
• Ongoing inflammation in PFS may result in endothelial dysfunction and atherosclerosis.
• Effective control of inflammation and reducing concomitant risk factors such as obesity, diabetes mellitus, and hypertension could improve cardiovascular outcomes in PFS patients.
Vaccination programs are effective strategies in preventing infectious diseases and controlling epidemics. Vaccination against SARS-CoV-2 in children has not yet been approved globally, and it is ...unclear what attitude families will take when it is approved in children. We aimed to investigate the underlying causes of vaccine acceptance, hesitation, and refusal, as well as concerns about the acceptability of the COVID-19 vaccine by parents of children with rheumatic diseases.
Parents of children followed up with a diagnosis of rheumatic disease in the pediatric rheumatology outpatient clinic of a university hospital were included in the study. We applied a closed web-based online survey conducted cross-sectionally and sent to the participants via mobile smartphones.
For fathers, mothers, and their children, acceptance rates for a COVID-19 vaccine were 64.2%, 57.7%, and 41.8%, respectively. In the multivariate analysis, factors affecting parents' acceptance of vaccines for their children were as follows: “Receiving antirheumatic medications regularly (AOR 5.40, 95% CI 1.10–26.33, p = 0.03), the previous history of getting special recommended vaccines (AOR 4.12, 95% CI 1.12–27.85, p = 0.03), relying on vaccines for ending pandemic (AOR 8.84, 95% CI 2.80–27.85, p = 0.001), complying with the pandemic measures entirely (AOR 5.24, 95% CI 1.46–18.74, p = 0.01)“. The two most common reasons for vaccine rejection were fear of the side effects of the vaccine and its possible interaction with rheumatic drugs used by children.
According to our survey, parents were more likely to accept a COVID-19 vaccine for themselves than their children. The success of COVID-19 vaccination programs sources highly on people's willingness to accept the vaccine. It is crucial to vaccinate children for achieving herd immunity and in terms of avoiding vaccine hesitancy. Larger data examining the causes of concerns in parents of both healthy children and children with chronic diseases should be delineated.
Abstract Objective Our aim was to describe our experience with tocilizumab (interleukin 6 receptor antagonist) treatment in children with Takayasu arteritis and to review previous studies regarding ...tocilizumab use in Takayasu arteritis patients. Patients and methods We reviewed the charts of all pediatric Takayasu arteritis patients followed between 2000 and 2015 in Department of Pediatric Rheumatology in Hacettepe University, Ankara, Turkey and we present the patients who were treated with tocilizumab. We screened PubMed and MEDLINE for articles involving Takayasu arteritis patients treated with tocilizumab. Results We have followed four pediatric Takayasu arteritis patients who received tocilizumab. The median duration of immunosuppressive treatment before tocilizumab onset was 16 (1–60) months. The median duration of tocilizumab treatment was 9.5 (7–13) months. One of our patients received tocilizumab as a first line immunosuppressive treatment directly after methylprednisolone. Others were resistant to their initial immunosuppressive treatment (cyclophosphamide, methotrexate, or azathioprine). All achieved complete response to tocilizumab at the third month of treatment. None of the patients reported any adverse events during follow-up. In literature review, we identified 19 articles describing 75 Takayasu arteritis patients treated with tocilizumab. Eight of these received tocilizumab before the age of 18 years. Tocilizumab was the first line immunosuppressive treatment in six patients (five adults and one children). Conclusion Our small series suggests that tocilizumab may be a promising alternative for Takayasu arteritis treatment. Long-term controlled studies are warranted to provide better evidence for tocilizumab treatment in childhood Takayasu arteritis.
Objectives
Henoch–Schönlein purpura (HSP) is the most common vasculitis of children. The aim of this study is to evaluate the demographic and clinic findings of patients with HSP and also to ...determine predictive factors for assessing the development of gastrointestinal system (GIS) and renal involvement.
Methods
This study was performed prospectively among children with HSP who are under 18 years of age and being followed-up in the Pediatric Rheumatology Unit of Health Sciences University Kanuni Sultan Süleyman Training and Research Hospital between January 2016 and January 2018.
Results
A total of 265 patients, 137 boys (51.7%) and 128 girls (48.3%), were involved to the study. The mean ± standard deviation of age at the diagnosis was 7.5 ± 3.2. The most common disease onset season was spring (31.7%). The rate of arthritis, GIS involvement, and renal involvement were 54%, 51.3%, and 29.1%, respectively. GIS bleeding was more frequent in males than females (
p
= 0.007). Boys over 7 years of age had significantly more common GIS bleeding (
p
= 0.04). Intussusception, relapse, and serious GIS involvement requiring hospitalization and steroid treatment were highly associated with severe renal involvement.
Conclusions
We demonstrated that patients suffering intussusception, relapse, and serious GIS involvement or requiring hospitalization and steroid treatment had tendency to present with severe renal involvement. Therefore, these patients should be followed up carefully for not overlooking renal involvement of HSP.
This study aimed to evaluate the anxiety, depression and quality of life scores of children and adolescents diagnosed with familial Mediterranean fever (FMF) and compare these scores with the ones of ...healthy controls. The study group comprised of 130 children and adolescents diagnosed with FMF with a mean age of 12.6 ± 2.58 and control group comprised of 121 healthy controls with a mean age of 11.8 ± 2.84. Both groups were evaluated with child depression inventory (CDI), screen for child anxiety related emotional disorders (SCARED), pediatric quality of life inventory TM 4.0 (PedsQL™ 4.0) questionnaires. The severity of FMF was assessed by Pras scoring system as mild, moderate and severe disease. The comparisons of these three subgroups of FMF were made in terms of anxiety, depression and quality of life. Children and adolescents with FMF had significantly higher median scores of anxiety than healthy controls. The median scores of depression and quality of life were similar between both groups. Patients with a depression score of 19 or above had significantly higher scores of anxiety and longer duration of disease than the patients with a depression score below 19. While the patients with a severe course of FMF had higher median scores of depression and anxiety, they had significantly lower median scores of quality of life. According to our evaluation, patients with FMF had higher anxiety scores and as the disease become severe, not only anxiety scores but also features of depression become overt. An early apprehension of the mood changes of these patients may have a positive influence in the management of FMF. So, a close collaboration between child and adolescent psychiatrist and pediatric rheumatologist is essential for all over well-being of children and adolescents with FMF.
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