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ACR Open Rheumatology Feb 2021The object of this study was to analyze the benefits and harms of different treatment options and to analyze test accuracy used in the evaluation of patients with...
OBJECTIVE
The object of this study was to analyze the benefits and harms of different treatment options and to analyze test accuracy used in the evaluation of patients with primary systemic polyarteritis nodosa (PAN).
METHODS
A systematic search of published English-language literature was performed in Ovid Medline, PubMed, Embase, and the Cochrane Library from the inception of each database through August 2019. Articles were screened for suitability in addressing patient, intervention, comparison, and outcome questions, with studies presenting the highest level of evidence given preference.
RESULTS
Of 137 articles selected for data abstraction, we analyzed 21 observational studies and seven randomized controlled trials (RCTs). The results showed indirect evidence that a deep skin biopsy provides good diagnostic accuracy. A combined nerve and muscle biopsy should be obtained for patients with PAN with peripheral neuropathy. Cyclophosphamide with high-dose glucocorticoids (GCs) is effective as an induction treatment for newly diagnosed active and severe PAN. GC monotherapy is adequate in the majority of patients with nonsevere PAN, although it has a high relapse rate with GC taper. There was insufficient data in determining the optimal duration of non-GC and GC maintenance therapy. Tumor necrosis factor inhibitors are effective treatment for patients with deficiency of adenosine deaminase 2 (DADA2) with stroke and vasculitis manifestations.
CONCLUSION
This comprehensive systematic review synthesizes and evaluates the harms and benefits of different treatment options and the accuracy of commonly used tests for the diagnosis of systemic PAN. Data for diagnosis and management of PAN and DADA2 are mostly limited to observational studies. More high-quality RCTs are needed.
PubMed: 33512781
DOI: 10.1002/acr2.11189 -
Orphanet Journal of Rare Diseases May 2023Deficiency of adenosine deaminase 2 (DADA2) is a rare monogenic autoinflammatory disease, whose clinical phenotype was expanded since the first cases, originally... (Review)
Review
INTRODUCTION
Deficiency of adenosine deaminase 2 (DADA2) is a rare monogenic autoinflammatory disease, whose clinical phenotype was expanded since the first cases, originally described as mimicker of polyarteritis nodosa, with immunodeficiency and early-onset stroke.
METHODS
A systematic review according to PRISMA approach, including all articles published before the 31st of August 2021 in Pubmed and EMBASE database was performed.
RESULTS
The search identified 90 publications describing 378 unique patients (55.8% male). To date 95unique mutations have been reported. The mean age at disease onset was 92.15 months (range 0-720 months), 32 (8.5%) showed an onset of the first signs/symptoms after 18 years old and 96 (25.4%) after 10 years old. The most frequent clinical characteristics described were cutaneous (67.9%), haematological manifestations (56.3%), recurrent fever (51.3%), neurological as stroke and polyneuropathy (51%), immunological abnormalities (42.3%), arthralgia/arthritis (35.4%), splenomegaly (30.6%), abdominal involvement (29.8%), hepatomegaly (23.5%), recurrent infections (18.5%), myalgia (17.9%), kidney involvement (17.7%) etc. Patients with skin manifestations were older than the others (101.1 months SD ± 116.5, vs. 75.3 SD ± 88.2, p 0.041), while those with a haematological involvement (64.1 months SD ± 75.6 vs. 133.1 SD ± 133.1, p < 0.001) and immunological involvement (73.03 months SD ± 96.9 vs. 103.2 SD ± 112.9, p 0.05) are younger than the others. We observed different correlations among the different clinical manifestations. The use of anti-TNFα and hematopoietic cell stems transplantation (HCST) has improved the current history of the disease.
CONCLUSION
Due to this highly variable phenotype and age of presentation, patients with DADA2 may present to several type of specialists. Given the important morbidity and mortality, early diagnosis and treatment are mandatory.
Topics: Male; Female; Humans; Adenosine Deaminase; Intercellular Signaling Peptides and Proteins; Phenotype; Stroke; Mutation
PubMed: 37179309
DOI: 10.1186/s13023-023-02721-6 -
ACR Open Rheumatology Feb 2021Eosinophilic granulomatosis with polyangiitis (EGPA) is part of a group of vasculitides commonly referred to as antineutrophil cytoplasmic antibody (ANCA)-associated...
OBJECTIVE
Eosinophilic granulomatosis with polyangiitis (EGPA) is part of a group of vasculitides commonly referred to as antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV), in addition to granulomatosis with polyangiitis (GPA), microscopic polyangiitis (MPA), and renal-limited vasculitis. Patients with EGPA characteristically have asthma and marked peripheral eosinophilia with only approximately 30% to 35% of patients being myeloperoxidase (MPO)-ANCA positive, distinguishing it from other forms of AAV (1,2). The aim of this systematic review is to support the development of the American College of Rheumatology/Vasculitis Foundation guideline for the management of EGPA.
METHODS
A systematic review was conducted of the literature for seven forms of primary systemic vasculitis (GPA, MPA, EGPA, polyarteritis nodosa, Kawasaki disease, giant cell arteritis, and Takayasu arteritis). The search was done for articles in English using Ovid Medline, PubMed, Embase, and the Cochrane Library. Articles were screened for suitability in addressing population/patients, intervention, comparator, and outcomes (PICO) questions, with studies presenting the highest level of evidence given preference. Two independent reviewers conducted a title/abstract screen and full-text review for each eligible study.
RESULTS
The initial search, conducted in August 2019, included 13 800 articles, of which 2596 full-text articles were reviewed. There were 190 articles (addressing 34 PICO questions) reporting on the diagnosis and management of EGPA.
CONCLUSION
This comprehensive systematic review synthesizes and evaluates the accuracy of commonly used tests for EGPA as well as benefits and toxicities of different treatment options.
PubMed: 33512787
DOI: 10.1002/acr2.11194 -
Medicina (Kaunas, Lithuania) Aug 2020Background and Objectives Over the last years, inflammatory bowel disease (IBD) has been reported on a high incidence in pediatric populations and has been associated...
UNLABELLED
Background and Objectives Over the last years, inflammatory bowel disease (IBD) has been reported on a high incidence in pediatric populations and has been associated with numerous extraintestinal manifestations, making its management a real challenge for the pediatric gastroenterologist. Dermatological manifestations in IBD are either specific, related to the disease activity or treatment-associated, or non-specific. This literature review aims to identify and report the dermatological manifestations of IBD in children, the correlation between their appearance and the demographical characteristics, the relationship between these lesions and disease activity, and to highlight the impact of dermatological manifestations on an IBD treatment regime.
MATERIALS AND METHODS
A systemic literature review was performed, investigating articles and case reports on dermatological manifestations in children with IBD starting from 2005. A total of 159 potentially suitable articles were identified and after the exclusion process, 75 articles were selected.
RESULTS
The most common dermatological manifestations reported in pediatric IBD are erythema nodosum and pyoderma gangrenosum. More rare cases of metastatic Crohn's disease, epidermolysis bullosa acquisita, small-vessel vasculitis, necrotizing vasculitis, leukocytoclastic vasculitis, cutaneous polyarteritis nodosa, and Sweet's syndrome have been reported. Oral manifestations of IBD are divided into specific (tag-like lesions, mucogingivitis, lip swelling with vertical fissures, aphthous stomatitis, and pyostomatitis vegetans) and non-specific. IBD treatment may present with side effects involving the skin and mucosa. Anti-tumor necrosis factor agents have been linked to opportunistic skin infections, psoriasiform lesions, and a potentially increased risk for skin cancer. Cutaneous manifestations such as acrodermatitis enteropathica, purpuric lesions, and angular cheilitis may appear secondary to malnutrition and/or malabsorption.
CONCLUSIONS
The correct diagnosis of dermatological manifestations in pediatric IBD is of paramount importance because of their impact on disease activity, treatment options, and a patient's psychological status.
Topics: Biological Factors; Child; Colitis, Ulcerative; Crohn Disease; Humans; Immunosuppressive Agents; Malabsorption Syndromes; Receptors, Tumor Necrosis Factor; Skin Diseases
PubMed: 32842528
DOI: 10.3390/medicina56090425 -
European Review For Medical and... Oct 2012Hemophagocytic lymphohistiocytosis (HLH), is a potentially fatal hyperinflammatory syndrome characterized fever, hepatosplenomegaly, and cytopenias. HLH can be either... (Review)
Review
BACKGROUND
Hemophagocytic lymphohistiocytosis (HLH), is a potentially fatal hyperinflammatory syndrome characterized fever, hepatosplenomegaly, and cytopenias. HLH can be either primary, with a genetic aetiology, or secondary, associated with malignancies, autoimmune diseases, or infections. Among rheumatic disorders, HLH occurs most frequently in systemic juvenile idiopathic arthritis.
AIM
To draw attention on this severe syndrome that may often go undiagnosed in patient with rheumatic diseases.
MATERIALS AND METHODS
PubMed search was performed by combining the terms (haemophagocytic, haemophagocytosis, hemophagocytosis, hemophagocytic, erythrophagocytosis, macrophage activation syndrome) and (rheumatic, rheumatologic, arthritis, lupus, Sjögren's syndrome, scleroderma, polymyositis, dermatomyositis, polymyalgia rheumatic, mixed connective tissue disease, polychondritis, sarcoidosis, polyarteritis nodosa, Henoch-Schönlein, serum sickness, wegener's granulomatosis, giant cell arteritis, temporal arteritis, Takayasu's arteritis, Behçet's syndrome, Kawasaki, Buerger's).
RESULTS
117 papers describing 421 patients were considered. HLH was described in systemic lupus erythematosus in 94 patients, in Still's disease in 37 patients, in rheumatoid arthritis in 13 patients, in systemic juvenile arthritis in 219 patients, in dermatomyositis in 7 patients, in Kawasaki disease in 25 patients, in systemic sclerosis in 5 patients, in Behcet disease in one patient, in polyarteritis nodosa in 6 patients, in ankylosing spondylitis in 2 patients, in mixed connective tissue disease in one patient, in sarcoidosis in 5 patients, in Sjögren's syndrome in 3 patients, in Wegener's granulomatosis in one patient, and in unclassifiable disorders in two patients.
CONCLUSIONS
HLH occurring in the course of rheumatic diseases is an important and often underdiagnosed clinical entity, which can affect prognosis.
Topics: Humans; Lymphohistiocytosis, Hemophagocytic; Prognosis; Rheumatic Diseases
PubMed: 23104659
DOI: No ID Found -
Frontiers in Immunology 2019Certain types of vasculitis occur more frequently and present differently in patients with familial Mediterranean fever (FMF). We assessed the characteristics of... (Meta-Analysis)
Meta-Analysis
Certain types of vasculitis occur more frequently and present differently in patients with familial Mediterranean fever (FMF). We assessed the characteristics of patients with FMF and systemic vasculitis through a systematic review of the literature. Medline was searched by two independent investigators until December 2017. We screened 310 articles and selected 58 of them (IgA vasculitis = 12, polyarteritis nodosa (PAN) = 25, Behçet's disease (BD) = 7, other vasculitis = 14). Clinical case reports were available for 167 patients (IgA vasculitis = 46, PAN = 61, BD = 46, other vasculitis = 14), and unavailable for 45 patients (IgA vasculitis = 38, PAN = 7). IgA vasculitis was the most common vasculitis in FMF patients with a prevalence of 2.7-7%, followed by PAN with a prevalence of 0.9-1.4%. Characteristics of FMF did not differ between patients with and without vasculitis. Patients with FMF and IgA vasculitis displayed more intussusception (8.7%) and possibly less IgA deposits on histological analysis than patients with IgA vasculitis alone. Patients with FMF and PAN had a younger age at vasculitis onset (mean age = 17.9 years), as well as more perirenal hematomas (49%) and CNS involvement (31%) than patients with PAN alone. Glomerular involvement was noted in 33% of patients diagnosed with PAN, suggesting an alternative diagnosis. Sequencing of the gene confirmed the presence of two pathogenic variants in 73% of FMF patients with IgA vasculitis or PAN. The majority of patients with BD were from one case series, and presented more skin, gastrointestinal, and CNS involvement than patients with isolated BD. In conclusion, FMF, particularly when supported by two pathogenic mutations, could predispose to IgA vasculitis, or a PAN-like vasculitis with more perirenal bleeding and CNS involvement.
Topics: Age of Onset; Disease Management; Disease Susceptibility; Familial Mediterranean Fever; Humans; Phenotype; Prevalence; Sex Factors; Vasculitis
PubMed: 31031761
DOI: 10.3389/fimmu.2019.00763