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Current Rheumatology Reports May 2023Undifferentiated connective tissue disease (UCTD) is characterized by the presence of clinical symptoms of a systemic autoimmune disease in addition to laboratory... (Review)
Review
PURPOSE OF REVIEW
Undifferentiated connective tissue disease (UCTD) is characterized by the presence of clinical symptoms of a systemic autoimmune disease in addition to laboratory evidence of autoimmunity with the patients not fulfilling any of the widely used classification criteria for classic autoimmune diseases. The presence of UCTD as a separate entity versus an early stage of such diseases as systemic lupus erythematosus (SLE) or scleroderma has long been debated. Given the uncertainty regarding this condition, we performed a systematic review on the topic.
RECENT FINDINGS
UCTD can be subcategorized as evolving (eUCTD) or stable UCTD (sUCTD) based on its evolution towards a definable autoimmune syndrome. Analyzing the data from six UCTD cohorts published in the literature, we found that 28% of patients have an evolving course with the majority developing SLE or rheumatoid arthritis within 5-6 years of the UCTD diagnosis. From the remaining patients, 18% do achieve remission. Published treatment regimens were similar to other mild autoimmune diseases with low-dose prednisone, hydroxychloroquine, and NSAID. One-third of patients did need immune suppressive medications. Importantly, the reported outcomes were excellent with survival rates of more than 90% over 10 years. It has to be noted though that as data on patient related outcomes are not available to date, the exact impact of this condition on quality of life is unclear. UCTD is a mild autoimmune condition with generally good outcomes. There is still great uncertainty though regarding diagnosis and management. Going forward, consistent classification criteria are needed to advance UCTD research and eventually provide authoritative guidance on the management of the condition.
Topics: Humans; Undifferentiated Connective Tissue Diseases; Quality of Life; Autoimmune Diseases; Lupus Erythematosus, Systemic; Arthritis, Rheumatoid; Connective Tissue Diseases
PubMed: 36884206
DOI: 10.1007/s11926-023-01099-5 -
Clinical and Experimental Rheumatology Feb 2022Anti-synthetase syndrome (ASSD) is a heterogeneous autoimmune disease characterised by multi-system involvement with a wide variety of manifestations. Validated... (Meta-Analysis)
Meta-Analysis
OBJECTIVES
Anti-synthetase syndrome (ASSD) is a heterogeneous autoimmune disease characterised by multi-system involvement with a wide variety of manifestations. Validated classification criteria are necessary to improve recognition and prevent misclassification, especially given the lack of reliable and standardised autoantibody testing. We systematically reviewed the literature to analyse proposed ASSD criteria, characteristics, and diagnostic performance.
METHODS
We searched PubMed and Embase databases (01/01/1984 to 06/11/2018) and the ACR and EULAR meeting abstracts (2017-2018). Sensitivities, specificities, positive, negative likelihood ratios and risk of bias were calculated for ASSD criteria and key variables reported in the literature. We performed meta-analysis when appropriate.
RESULTS
We retrieved 4,358 studies. We found 85 proposed ASSD criteria from a total of 82 studies. All but one study included anti-synthetase autoantibody (ARS) positivity in the ASSD criteria. Most studies required only one ASSD feature plus anti-ARS to define ASSD (n=64, 78%), whereas 16 studies required more than one ASSD variable plus anti-ARS. The only criteria not including anti-ARS positivity required 5 ASSD clinical features. We found limited data and wide variability in the diagnostic performance of each variable and definition proposed in the literature. Given these limitations we only meta-analysed the performance of individual muscle biopsy and clinical variables in diagnosing ASSD, which performed poorly.
CONCLUSIONS
The current ASSD criteria include a variety of serological, clinical, and histological features with wide variability amongst proposed definitions and the performance of these definitions has not been tested. This systematic literature review suggests the need for additional data and consensus-driven classification criteria for ASSD.
Topics: Autoantibodies; Humans; Ligases; Syndrome
PubMed: 35225224
DOI: 10.55563/clinexprheumatol/8xj0b9 -
Blood Advances Jun 2019The terminology applied to autoimmune hemolytic anemia (AIHA) seems inconsistent. We aimed to evaluate the consistency of definitions used for diagnosis and treatment.... (Comparative Study)
Comparative Study
The terminology applied to autoimmune hemolytic anemia (AIHA) seems inconsistent. We aimed to evaluate the consistency of definitions used for diagnosis and treatment. In this systematic review of literature from January 2006 to December 2015, we assessed heterogeneity in the definition of AIHA and its subtypes, refractory disease, disease phase, severity, criteria for treatment response, and response durability. A Medline search for anemia, hemolytic, autoimmune was supplemented with keyword searches. Main exclusions were conference abstracts, animal and non-English studies, and studies with <10 cases. Of 1371 articles retrieved, 1209 were excluded based on titles and abstracts. Two authors independently reviewed 10% and 16% of abstracts and full papers, respectively. After full-paper review, 84 studies were included. AIHA was most frequently (32 [52%] of 61) defined as hemolytic anemia with positive direct antiglobulin test (DAT) and exclusion of alternatives, but 10 of 32 also recognized DAT-negative AIHA. A lower threshold for diagnosis of DAT-negative AIHA was observed in literature on chronic lymphocytic leukemia. Definitions of anemia, hemolysis, and exclusion criteria showed substantial variation. Definitions of primary/secondary cold agglutinin disease/syndrome were not consistent. Forty-three studies provided criteria for treatment response, and other than studies from 1 center, these were almost entirely unique. Other criteria were rarely defined. Only 7, 0, 3, 2, 2, and 3 studies offered definitions of warm AIHA, paroxysmal cold hemoglobinuria, mixed AIHA, AIHA severity, disease phase, and refractory AIHA, respectively. Marked heterogeneity in the time period sampled indicates the need to standardize AIHA terminology.
Topics: Anemia, Hemolytic, Autoimmune; Coombs Test; Erythrocytes; Hemoglobinuria, Paroxysmal; Hemolysis; Humans; Immunoglobulin G; Publications; Severity of Illness Index; Terminology as Topic
PubMed: 31235526
DOI: 10.1182/bloodadvances.2019000036 -
Journal of Stomatology, Oral and... Oct 2022This systematic review aimed to evaluate complications and survival rates of dental implants placed in patients suffering from autoimmune diseases.
PURPOSE
This systematic review aimed to evaluate complications and survival rates of dental implants placed in patients suffering from autoimmune diseases.
MATERIALS AND METHODS
A systematic review was conducted following Preferred Reporting Items for Systematic Reviews and Meta-Analyses systematic review guidelines (PRISMA), using Google scholar and PubMed electronic databases with a stop date of September 2021. The eligibility criteria included all full text human studies in the English language literature reporting on patients with autoimmune diseases treated with dental implants.
RESULTS
Fifty-five studies reporting on nine distinct autoimmune diseases were analyzed: 17 on Sjögren's syndrome (SS), 11 on oral lichen planus (OLP), 8 on Type 1 diabetes, 6 on rheumatoid arthritis (RA), 4 on systemic scleroderma (SSc), 3 on Crohn's disease (CD), 3 on systemic lupus erythematosus (SLE), 2 on mucous membrane pemphigoid (MMB) and 1 on pemphigus vulgaris (PV). Despite the heterogeneity and methodological limitations of most of the studies, results showed that dental implant survival rates were comparable to those reported in the general population. However, patients with secondary SS or erosive OLP were more susceptible to developing peri-mucositis and increased marginal bone loss.
CONCLUSION
This review suggested that dental implants may be considered as a safe and viable therapeutic option in the management of edentulous patients suffering from autoimmune diseases. Nevertheless, scrupulous maintenance of oral hygiene and long-term follow-up emerge as being the common determinants for uneventful dental implant treatment.
Topics: Dental Implants; Humans; Lichen Planus, Oral; Sjogren's Syndrome
PubMed: 35033725
DOI: 10.1016/j.jormas.2022.01.005 -
Autoimmunity Reviews Apr 2022Many systemic immune-mediated diseases (SIDs) may involve the heart and present as myocarditis with different histopathological pictures, i.e. lymphocytic, eosinophilic,... (Review)
Review
Many systemic immune-mediated diseases (SIDs) may involve the heart and present as myocarditis with different histopathological pictures, i.e. lymphocytic, eosinophilic, granulomatous, and clinical features, ranging from a completely asymptomatic patient to life-threatening cardiogenic shock or arrhythmias. Myocarditis can be part of some SIDs, such as sarcoidosis, systemic lupus erythematosus, systemic sclerosis, antiphospholipid syndrome, dermato-polymyositis, eosinophilic granulomatosis with polyangiitis and other vasculitis syndromes, but also of some organ-based immune-mediated diseases with systemic expression, such as chronic inflammatory bowel diseases. The aim of this review is to describe the prevalence, main clinical characteristics and prognosis of myocarditis associated with SIDs.
Topics: Churg-Strauss Syndrome; Granulomatosis with Polyangiitis; Humans; Myocarditis; Prevalence; Prognosis
PubMed: 34995763
DOI: 10.1016/j.autrev.2022.103037 -
Frontiers in Immunology 2022Lupus erythematosus is an autoimmune disease that may manifest in a variety of organs and tissues including the skin, kidney, brain, heart and lung. Many patients... (Review)
Review
Lupus erythematosus is an autoimmune disease that may manifest in a variety of organs and tissues including the skin, kidney, brain, heart and lung. Many patients present with cutaneous lupus, where disease is often limited to the skin, but are at risk for developing systemic lupus. The objective of our present study is to perform a systematic review of studies that investigated patient cohorts and populations for the occurrence of cutaneous lupus progressing to systemic lupus. Inclusion criteria required that studies present longitudinal data of patients with limited cutaneous lupus erythematosus who were followed for development of systemic lupus erythematosus. Studies were excluded if patients had concurrent diagnosis of SLE, or if they failed to present longitudinal data. Medline and Embase were searched for English language studies using the Ovid platform. A total of 25 adult studies were identified, as well as 8 pediatric studies. The rate of cutaneous to systemic lupus progression ranged between 0% to 42% in the adult studies and 0% to 31% in the pediatric groups. The variability in these rates were due to differences in patient populations, study design, criteria used to diagnose systemic lupus, and follow-up time. Common risk factors associated with systemic lupus erythematosus development including having positive anti-nuclear antibodies, hematologic abnormalities, and higher number of lupus classification criteria at baseline. This study emphasizes the importance for providers to routinely monitor for systemic lupus in patients with cutaneous lupus.
Topics: Adult; Autoimmune Diseases; Child; Humans; Lupus Erythematosus, Cutaneous; Lupus Erythematosus, Systemic; Risk Factors
PubMed: 35359921
DOI: 10.3389/fimmu.2022.866319 -
Journal of Pediatric Gastroenterology... Feb 2018Paediatric autoimmune liver disease is characterized by inflammatory liver histology, circulating autoantibodies, and increased levels of IgG, in the absence of a known...
Paediatric autoimmune liver disease is characterized by inflammatory liver histology, circulating autoantibodies, and increased levels of IgG, in the absence of a known etiology. Three conditions have a likely autoimmune pathogenesis: autoimmune hepatitis (AIH), autoimmune sclerosing cholangitis, and de novo AIH after liver transplantation. Two types of pediatric AIH are recognized according to seropositivity for smooth muscle and/or antinuclear antibody (AIH-1) or liver kidney microsomal type 1 and/or anti-liver cytosol type 1 antibodies (AIH-2).Pertinent issues addressing the diagnosis, treatment, and long-term follow-up were formulated by a core group of ESPGHAN members. They have commissioned the first authors with execution of this project. Initially, they have performed a systematic literature search on MEDLINE, ResearchGate, and Mendeley databases during the last 30 years and produced a document focusing on prospective and retrospective studies in children. The ESPGHAN core group and ESPGHAN Hepatology Committee members voted on each recommendation, using a formal voting technique.
Topics: Advisory Committees; Autoantibodies; Child; Female; Gastroenterology; Hepatitis, Autoimmune; Humans; Immunosuppressive Agents; Liver; Liver Transplantation; Male; Practice Guidelines as Topic
PubMed: 29356770
DOI: 10.1097/MPG.0000000000001801 -
The Journal of Clinical Endocrinology... Oct 2019This mini-review offers an update on the rare autoimmune polyendocrinopathy (AP) syndrome with a synopsis of recent developments.
CONTEXT
This mini-review offers an update on the rare autoimmune polyendocrinopathy (AP) syndrome with a synopsis of recent developments.
DESIGN AND RESULTS
Systematic search for studies related to pathogenesis, immunogenetics, screening, diagnosis, clinical spectrum, and epidemiology of AP. AP (orphan code ORPHA 282196) is defined as the autoimmune-induced failure of at least two glands. AP is divided into the rare juvenile type I and the adult types II to IV. The prevalence is 1:100,000 and 1:20,000 for types I and types II to IV, respectively. Whereas type I (ORPHA 3453) is a monogenetic syndrome with an autosomal recessive transmission related to mutations in the autoimmune regulator (AIRE) gene, types II to IV are genetically complex multifactorial syndromes that are strongly associated with certain alleles of HLA genes within the major histocompatibility complex located on chromosome 6, as well as the cytotoxic T lymphocyte antigen 4 and the protein tyrosine phosphatase nonreceptor type 22 genes. Addison disease is the major endocrine component of type II (ORPHA 3143), whereas the coexistence of type 1 diabetes and autoimmune thyroid disease is characteristic for type III (ORPHA 227982). Genetic screening for the AIRE gene is useful in patients with suspected type I, whereas serological screening (i.e., diabetes/adrenal antibodies) is required in patients with monoglandular autoimmunity and suspected AP. If positive, functional endocrine testing of the antibody-positive patients as well as serological screening of their first-degree relatives is recommended.
CONCLUSION
Timely diagnosis, genetic counseling, and optimal long-term management of AP is best offered in specialized centers.
Topics: Adult; Autoimmunity; Child; Comorbidity; Genetic Counseling; Genetic Testing; Humans; Long-Term Care; Polyendocrinopathies, Autoimmune; Prevalence
PubMed: 31127843
DOI: 10.1210/jc.2019-00602 -
Autoimmunity Reviews Jan 2023Rheumatoid arthritis (RA) is an autoimmune disease characterized by symmetrical peripheral polyarthritis in the hands and/or feet, leading to long-term disability if not... (Review)
Review
BACKGROUND
Rheumatoid arthritis (RA) is an autoimmune disease characterized by symmetrical peripheral polyarthritis in the hands and/or feet, leading to long-term disability if not treated effectively. RA is preceded by a preclinical phase, in which genetically predisposed individuals accumulate environmental risk factors, and during which autoimmunity develops, followed by the emergence of non-specific signs and symptoms before arthritis becomes manifest. Early treatment in at-risk individuals - i.e. before the disease is fully established - has the theoretical potential to delay or prevent disease onset, with a positive impact on both patients' life and society.
OBJECTIVES
We aimed to understand the feasibility of preventive treatment in at-risk individuals, taking into account recently performed studies and ongoing clinical trials, as well as patient perspectives.
METHODS
We performed a systematic literature review (SLR) on Medline and Embase, searching articles published between 2010 and 2021 with the following key-words: "Rheumatoid arthritis", "arthralgia", "pre-treatment" or "prevent".
RESULTS
Our SLR identified a total of 1821 articles. Articles were independently screened by two researchers. A total of 14 articles were included after screening, and an additional 8 reports were manually included. We identified ten relevant clinical trials performed in at-risk individuals, or in individuals with undifferentiated inflammatory arthritis. Although no treatment was shown to prevent RA onset, early treatment with rituximab and abatacept delayed onset of full-blown RA, and both conventional and biological disease-modifying anti-rheumatic drugs (DMARDs) decreased disease-related physical limitations and increased DAS28-defined remission, at least temporarily.
CONCLUSIONS
This SLR demonstrates that early treatment of at-risk individuals may be effective in delaying RA onset, thereby decreasing disease-related limitations in individuals in the pre-clinical phase of RA. Whether this may ultimately lead to prevention of RA remains to be determined.
Topics: Humans; Arthritis, Rheumatoid; Antirheumatic Agents; Abatacept; Rituximab; Autoimmunity
PubMed: 36280095
DOI: 10.1016/j.autrev.2022.103217 -
JAMA Psychiatry Jun 2018With a prevalence of 4% to 13% in the United States, autoimmune thyroiditis (AIT) is a major health problem. Besides somatic complications, patients with AIT can also... (Meta-Analysis)
Meta-Analysis
IMPORTANCE
With a prevalence of 4% to 13% in the United States, autoimmune thyroiditis (AIT) is a major health problem. Besides somatic complications, patients with AIT can also experience psychiatric disorders. The extent of these organic psychiatric diseases in patients with AIT, however, is so far not commonly known.
OBJECTIVE
To provide meta-analytic data on the association of depression and anxiety with AIT.
DATA SOURCES
Google Scholar, the EBSCO Host databases, the Web of Knowledge, and PubMed were searched from inception through December 5, 2017. Articles identified were reviewed and reference lists were searched manually.
STUDY SELECTION
Case-control studies that reported the association between AIT and either depression or anxiety disorders or both were included.
DATA EXTRACTION AND SYNTHESIS
Data extraction was performed by multiple observers following the PRISMA guidelines. Two univariate random-effects meta-analyses were performed, and moderators were tested with Bonferroni-corrected meta-regression analysis. Heterogeneity was assessed with the I2 statistic. Sensitivity analyses tested the robustness of the results. Small study effects were assessed with funnel plots and the Egger test.
MAIN OUTCOMES AND MEASURES
The odds ratio of patients with AIT and depression compared with a healthy control group, as well as the odds ratio of patients with AIT and anxiety disorders compared with a healthy control group.
RESULTS
Nineteen studies comprising 21 independent samples were included, with a total of 36 174 participants (35 168 for depression and 34 094 for anxiety). Patients with AIT, Hashimoto thyroiditis, or subclinical or overt hypothyroidism had significantly higher scores on standardized depression instruments, with an odds ratio of 3.56 (95% CI, 2.14-5.94; I2 = 92.1%). For anxiety disorders, patients with AIT, Hashimoto thyroiditis, or subclinical or overt hypothyroidism had an odds ratio of 2.32 (95% CI, 1.40-3.85; I2 = 89.8%). Funnel plot asymmetry was detected for studies of depression. Study quality assessed with the Newcastle-Ottawa Scale for case-control studies (mean [SD] score: anxiety, 5.77 [1.17]; depression, 5.65 [1.14]; of a possible maximum score of 9) and proportion of females did not modulate the meta-analytic estimate, whereas mean age did.
CONCLUSIONS AND RELEVANCE
This meta-analysis establishes the association between AIT and depression and anxiety disorders. Patients with AIT exhibit an increased chance of developing symptoms of depression and anxiety or of receiving a diagnosis of depression and anxiety disorders. This finding has important implications for patients and could lead to the choice of early treatment-and not only psychotherapeutic treatment-of the organic disorder.
Topics: Anxiety Disorders; Depressive Disorder; Humans; Thyroiditis, Autoimmune
PubMed: 29800939
DOI: 10.1001/jamapsychiatry.2018.0190