Pub Date : 2024-10-28DOI: 10.1016/j.autrev.2024.103673
Carlo Perricone , Lorenza Bruno , Giacomo Cafaro , Andrea Latini , Fulvia Ceccarelli , Paola Borgiani , Cinzia Ciccacci , Dimitrios Bogdanos , Giuseppe Novelli , Roberto Gerli , Elena Bartoloni
Primary Sjögren's syndrome (pSS) is a chronic, systemic autoimmune disease characterized by a wide spectrum of glandular and extra-glandular features. Genetic and epigenetic factors play an important role in the disease susceptibility and phenotype. There are a multitude of genes that have been identified as implicated in the pathogenesis of pSS, both in HLA and extra-HLA regions with a strong contribution given by genes in interferon signalling pathways. Among the HLA alleles, the most consistent associations have been found with DR2 and DR3 alleles at the DRB1 locus. Moreover, several gene variants outside the MHC locus are in genes involved in NF-κB signalling, B- and T-cell function and methylation processes possibly responsible for lymphomagenesis. There is still a lack of knowledge on precise genetic patterns and prediction models of diseases, and data on pharmacogenetics is scarce. A comprehensive summary of the common genetic factors and an extensive analysis of novel epigenetic aspects is provided, together with a view on the relationships between novel therapeutic agents for pSS and genetic targets in signalling pathways, aiming at improving tailored treatment strategies in the view of a more personalized medicine.
{"title":"Sjogren's syndrome: Everything you always wanted to know about genetic and epigenetic factors","authors":"Carlo Perricone , Lorenza Bruno , Giacomo Cafaro , Andrea Latini , Fulvia Ceccarelli , Paola Borgiani , Cinzia Ciccacci , Dimitrios Bogdanos , Giuseppe Novelli , Roberto Gerli , Elena Bartoloni","doi":"10.1016/j.autrev.2024.103673","DOIUrl":"10.1016/j.autrev.2024.103673","url":null,"abstract":"<div><div>Primary Sjögren's syndrome (pSS) is a chronic, systemic autoimmune disease characterized by a wide spectrum of glandular and extra-glandular features. Genetic and epigenetic factors play an important role in the disease susceptibility and phenotype. There are a multitude of genes that have been identified as implicated in the pathogenesis of pSS, both in HLA and extra-HLA regions with a strong contribution given by genes in interferon signalling pathways. Among the HLA alleles, the most consistent associations have been found with DR2 and DR3 alleles at the DRB1 locus. Moreover, several gene variants outside the MHC locus are in genes involved in NF-κB signalling, B- and T-cell function and methylation processes possibly responsible for lymphomagenesis. There is still a lack of knowledge on precise genetic patterns and prediction models of diseases, and data on pharmacogenetics is scarce. A comprehensive summary of the common genetic factors and an extensive analysis of novel epigenetic aspects is provided, together with a view on the relationships between novel therapeutic agents for pSS and genetic targets in signalling pathways, aiming at improving tailored treatment strategies in the view of a more personalized medicine.</div></div>","PeriodicalId":8664,"journal":{"name":"Autoimmunity reviews","volume":"23 12","pages":"Article 103673"},"PeriodicalIF":9.2,"publicationDate":"2024-10-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142555668","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-10-24DOI: 10.1016/j.autrev.2024.103674
Shi-Yang Guan , Jin-Xin Zheng , Xin-Yu Feng , Shun-Xian Zhang , Shu-Zhen Xu , Peng Wang , Hai-Feng Pan
<div><h3>Background</h3><div>Autoimmune diseases arise from a combination of non-modifiable risk factors, such as gender and genetic predispositions, and modifiable factors, including lifestyle choices and environmental exposures. Given the potential to alter modifiable risk factors, this study aims to evaluate the global burden, temporal trends, and inequalities of autoimmune diseases attributed to modifiable risk factors from 1990 to 2021. The study will provide up-to-date evidence to inform strategies for mitigating the impact of these risk factors on autoimmune diseases worldwide.</div></div><div><h3>Methods</h3><div>Data on the global burden of autoimmune diseases attributed to modifiable risk factors were obtained from the Global Burden of Diseases study 2021. Temporal trends in age standardized disability-adjusted life-years (DALYs) rates were evaluated by estimated annual percentage changes (EAPC). Spearman rank correlation test was used to explore the association between two variables. Slope index of inequality (SII) and concentration index (CI) were used to evaluated the absolute and relative inequalities in DALY rates and numbers, respectively.</div></div><div><h3>Results</h3><div>From 1990 to 2021, type 1 diabetes mellitus (T1DM) due to high temperature has shown an increasing trend in global age standardized DALY rates (EAPC = 0.88, 0.58 to 1.18), whereas all other autoimmune diseases due to specific risk factors have generally exhibited decreasing trends. Across Socio-demographic Index (SDI) quintiles, notable increases were observed in high SDI countries for T1DM due to high temperature (EAPC = 1.36, 0.92 to 1.80), in low and low-middle SDI countries for multiple sclerosis (MS) due to smoking (EAPC = 0.25, 0.23 to 0.27; 0.22, 0.21 to 0.23, respectively), and in low-middle SDI countries for asthma due to high body-mass index (BMI) (EAPC = 0.25, 0.20 to 0.29). In 2021, significant positive associations were observed between SDI and age-standardized DALY rates for rheumatoid arthritis (RA) and MS due to smoking, as well as T1DM due to low temperatures across 204 countries and territories (all <em>P</em> < 0.05). In contrast, all other autoimmune diseases attributed to certain risk factors exhibited significant negative associations (all <em>P</em> < 0.05). Women displayed higher global age-standardized DALY rates for asthma due to high BMI (44.1 per 100,000 population), while men exhibited higher global age-standardized DALY rates for all other autoimmune diseases due to specific risk factors. Except for narrowed inequalities in DALY rates for asthma due to smoking (SII = 20.4, 13.0 to 27.8 in 1990 to 6.7, 2.8 to 10.6 in 2021) and in DALY numbers for asthma due to high BMI (CI = 17.3, 24.5 to 9.5 in 1990 to −0.3, 8.2 to −8.6 in 2021), both absolute and relative SDI-related inequalities have remained stable for all other autoimmune diseases linked to specific risk factors.</div></div><div><h3>Conclusions</h3><div>Over the past th
{"title":"Global burden due to modifiable risk factors for autoimmune diseases, 1990–2021: Temporal trends and socio-demographic inequalities","authors":"Shi-Yang Guan , Jin-Xin Zheng , Xin-Yu Feng , Shun-Xian Zhang , Shu-Zhen Xu , Peng Wang , Hai-Feng Pan","doi":"10.1016/j.autrev.2024.103674","DOIUrl":"10.1016/j.autrev.2024.103674","url":null,"abstract":"<div><h3>Background</h3><div>Autoimmune diseases arise from a combination of non-modifiable risk factors, such as gender and genetic predispositions, and modifiable factors, including lifestyle choices and environmental exposures. Given the potential to alter modifiable risk factors, this study aims to evaluate the global burden, temporal trends, and inequalities of autoimmune diseases attributed to modifiable risk factors from 1990 to 2021. The study will provide up-to-date evidence to inform strategies for mitigating the impact of these risk factors on autoimmune diseases worldwide.</div></div><div><h3>Methods</h3><div>Data on the global burden of autoimmune diseases attributed to modifiable risk factors were obtained from the Global Burden of Diseases study 2021. Temporal trends in age standardized disability-adjusted life-years (DALYs) rates were evaluated by estimated annual percentage changes (EAPC). Spearman rank correlation test was used to explore the association between two variables. Slope index of inequality (SII) and concentration index (CI) were used to evaluated the absolute and relative inequalities in DALY rates and numbers, respectively.</div></div><div><h3>Results</h3><div>From 1990 to 2021, type 1 diabetes mellitus (T1DM) due to high temperature has shown an increasing trend in global age standardized DALY rates (EAPC = 0.88, 0.58 to 1.18), whereas all other autoimmune diseases due to specific risk factors have generally exhibited decreasing trends. Across Socio-demographic Index (SDI) quintiles, notable increases were observed in high SDI countries for T1DM due to high temperature (EAPC = 1.36, 0.92 to 1.80), in low and low-middle SDI countries for multiple sclerosis (MS) due to smoking (EAPC = 0.25, 0.23 to 0.27; 0.22, 0.21 to 0.23, respectively), and in low-middle SDI countries for asthma due to high body-mass index (BMI) (EAPC = 0.25, 0.20 to 0.29). In 2021, significant positive associations were observed between SDI and age-standardized DALY rates for rheumatoid arthritis (RA) and MS due to smoking, as well as T1DM due to low temperatures across 204 countries and territories (all <em>P</em> < 0.05). In contrast, all other autoimmune diseases attributed to certain risk factors exhibited significant negative associations (all <em>P</em> < 0.05). Women displayed higher global age-standardized DALY rates for asthma due to high BMI (44.1 per 100,000 population), while men exhibited higher global age-standardized DALY rates for all other autoimmune diseases due to specific risk factors. Except for narrowed inequalities in DALY rates for asthma due to smoking (SII = 20.4, 13.0 to 27.8 in 1990 to 6.7, 2.8 to 10.6 in 2021) and in DALY numbers for asthma due to high BMI (CI = 17.3, 24.5 to 9.5 in 1990 to −0.3, 8.2 to −8.6 in 2021), both absolute and relative SDI-related inequalities have remained stable for all other autoimmune diseases linked to specific risk factors.</div></div><div><h3>Conclusions</h3><div>Over the past th","PeriodicalId":8664,"journal":{"name":"Autoimmunity reviews","volume":"23 12","pages":"Article 103674"},"PeriodicalIF":9.2,"publicationDate":"2024-10-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142493753","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-10-21DOI: 10.1016/j.autrev.2024.103671
Fan Cao , Hai-Feng Pan , Shengping Hou
<div><h3>Aim</h3><div>To produce a unique metric ‘autoimmune disease (ADs)’ based on various single autoimmune disorder and estimate its case number and age-standardized rate of incidence for each stage in life cycle of women from 1990 to 2019, and to further explore their temporal trends at global, regional, and national levels.</div></div><div><h3>Methods</h3><div>A comprehensive classification for life cycle of women was proposed. The estimates and 95 % uncertainty intervals (UIs) for case number and rate of incidence for rheumatoid arthritis, inflammatory bowel disease, multiple sclerosis, psoriasis, and type 1 diabetes mellitus in all age groups (< 1, 1–4, 5–9, 10–14, 15–19, 20–24, 25–29, ……,80–84, 85–89, 90–94, 95+) were extracted from the Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) 2019. ‘ADs’ was defined by combining these five disorders. Age standardization by direct method was utilized to estimate the age-standardized rate (ASR) of incidence of ‘ADs’ for each stage in life cycle of women. Joinpoint regression analysis was adopted to investigate temporal trends of ASR from 1990 to 2019 by calculating annual percentage change (APC) and average APC (AAPC). Associations of incidence in 2019 and change in incidence from 1990 to 2019, with Socio-demographic Index (SDI) were also explored.</div></div><div><h3>Results</h3><div>In 2019, global ASR of incidence of ‘ADs’ in childhood, adolescence, adulthood, senility, women of childbearing age, perimenopause, menopause, and sex mature adults at the best reproductive age were 45.46 (95 % CI: 36.40 to 55.09), 59.97(95 % CI:46.62 to 75.30), 104.45 (95 % CI: 84.55 to 127.79), 129.58 (95 % CI: 105.18 to 157.68), 89.51 (95 % CI: 71.94 to 110.35), 130.92 (95 % CI: 106.98 to 158.16), 132.94 (95 % CI: 108.76 to 160.90) and 85.78 (95 % CI: 68.72 to 106.37), respectively. Regionally, although ASR in eight life stages differed from distinct geographical areas, the top three highest ASR all occurred in Western Europe, Australasia, and High-income North America. From 1990 to 2019, global ASR in childhood (AAPC: −0.39, [95 % CI: −0.4 to −0.38], <em>p</em> < 0.001), adolescence (AAPC: −0.4, [95 % CI: −0.41 to −0.4], <em>p</em> < 0.001), adulthood (AAPC: −0.53, [95 % CI: −0.55 to −0.51], <em>p</em> < 0.001), senility (AAPC: −0.4, [95 % CI: −0.41 to −0.38], <em>p</em> < 0.001), women of childbearing age (AAPC: −0.53, [95 % CI: −0.55 to −0.5], <em>p</em> < 0.001), perimenopause (AAPC: −0.56, [95 % CI: −0.59 to −0.52], <em>p</em> < 0.001), menopause (AAPC: −0.56, [95 % CI: −0.59 to −0.53], <em>p</em> < 0.001), and sex mature adults at the best reproductive age (AAPC: −0.5, [95 % CI: −0.51 to −0.49], <em>p</em> < 0.001) all significantly decreased. Nationally, ASR and its temporal trends in eight life stages varied significantly across 204 countries and territories. Additionally, incidence in 2019 and change in incidence from 1990 to 2019 were positively correlated with
{"title":"A novel metric of autoimmune disease burden and its estimated incidence across different stages in life cycle of women","authors":"Fan Cao , Hai-Feng Pan , Shengping Hou","doi":"10.1016/j.autrev.2024.103671","DOIUrl":"10.1016/j.autrev.2024.103671","url":null,"abstract":"<div><h3>Aim</h3><div>To produce a unique metric ‘autoimmune disease (ADs)’ based on various single autoimmune disorder and estimate its case number and age-standardized rate of incidence for each stage in life cycle of women from 1990 to 2019, and to further explore their temporal trends at global, regional, and national levels.</div></div><div><h3>Methods</h3><div>A comprehensive classification for life cycle of women was proposed. The estimates and 95 % uncertainty intervals (UIs) for case number and rate of incidence for rheumatoid arthritis, inflammatory bowel disease, multiple sclerosis, psoriasis, and type 1 diabetes mellitus in all age groups (< 1, 1–4, 5–9, 10–14, 15–19, 20–24, 25–29, ……,80–84, 85–89, 90–94, 95+) were extracted from the Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) 2019. ‘ADs’ was defined by combining these five disorders. Age standardization by direct method was utilized to estimate the age-standardized rate (ASR) of incidence of ‘ADs’ for each stage in life cycle of women. Joinpoint regression analysis was adopted to investigate temporal trends of ASR from 1990 to 2019 by calculating annual percentage change (APC) and average APC (AAPC). Associations of incidence in 2019 and change in incidence from 1990 to 2019, with Socio-demographic Index (SDI) were also explored.</div></div><div><h3>Results</h3><div>In 2019, global ASR of incidence of ‘ADs’ in childhood, adolescence, adulthood, senility, women of childbearing age, perimenopause, menopause, and sex mature adults at the best reproductive age were 45.46 (95 % CI: 36.40 to 55.09), 59.97(95 % CI:46.62 to 75.30), 104.45 (95 % CI: 84.55 to 127.79), 129.58 (95 % CI: 105.18 to 157.68), 89.51 (95 % CI: 71.94 to 110.35), 130.92 (95 % CI: 106.98 to 158.16), 132.94 (95 % CI: 108.76 to 160.90) and 85.78 (95 % CI: 68.72 to 106.37), respectively. Regionally, although ASR in eight life stages differed from distinct geographical areas, the top three highest ASR all occurred in Western Europe, Australasia, and High-income North America. From 1990 to 2019, global ASR in childhood (AAPC: −0.39, [95 % CI: −0.4 to −0.38], <em>p</em> < 0.001), adolescence (AAPC: −0.4, [95 % CI: −0.41 to −0.4], <em>p</em> < 0.001), adulthood (AAPC: −0.53, [95 % CI: −0.55 to −0.51], <em>p</em> < 0.001), senility (AAPC: −0.4, [95 % CI: −0.41 to −0.38], <em>p</em> < 0.001), women of childbearing age (AAPC: −0.53, [95 % CI: −0.55 to −0.5], <em>p</em> < 0.001), perimenopause (AAPC: −0.56, [95 % CI: −0.59 to −0.52], <em>p</em> < 0.001), menopause (AAPC: −0.56, [95 % CI: −0.59 to −0.53], <em>p</em> < 0.001), and sex mature adults at the best reproductive age (AAPC: −0.5, [95 % CI: −0.51 to −0.49], <em>p</em> < 0.001) all significantly decreased. Nationally, ASR and its temporal trends in eight life stages varied significantly across 204 countries and territories. Additionally, incidence in 2019 and change in incidence from 1990 to 2019 were positively correlated with","PeriodicalId":8664,"journal":{"name":"Autoimmunity reviews","volume":"23 12","pages":"Article 103671"},"PeriodicalIF":9.2,"publicationDate":"2024-10-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142493755","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Predicting the onset, progression, and outcome of rare and chronic neurological diseases, i.e. neuromuscular diseases, is an important goal for both clinicians and researchers and should guide clinical decision-making and personalized treatment plans. A prime example is myasthenia gravis (MG), an antibody-mediated disease that affects multiple components of the postsynaptic membrane, impairing neuromuscular transmission and producing fatigable muscle weakness. MG is characterized by several clinical phenotypes, defined by a broad spectrum of factors, which have contributed to the current lack of consensus on the optimal management and treatments of this disease and its related phenotypes (subtypes). This represents a crucial challenge in MG and encourages a revolutionary change in diagnostic, prognostic and therapeutic guidelines. Emerging factors, such as demographic, clinical and pathophysiological factors, must also be considered. Consequently, the different MG phenotypes are characterized by precise biological signatures, which could represent appropriate biomarkers and targets. Here we describe and discuss these new concepts, highlighting that, thanks to multi-omics technologies, the identification of emerging diagnostic/prognostic biomarkers, such as miRNAs, and the subsequent development of new diagnostic/therapeutic algorithms could be facilitated. The latter, in turn, could facilitate the management of different MG phenotypes also in a personalized manner. Limitations and advantages are also reported.
{"title":"Towards personalized management of myasthenia gravis phenotypes: From the role of multi-omics to the emerging biomarkers and therapeutic targets","authors":"Carmela Rita Balistreri , Claudia Vinciguerra , Daniele Magro , Vincenzo Di Stefano , Roberto Monastero","doi":"10.1016/j.autrev.2024.103669","DOIUrl":"10.1016/j.autrev.2024.103669","url":null,"abstract":"<div><div>Predicting the onset, progression, and outcome of rare and chronic neurological diseases, i.e. neuromuscular diseases, is an important goal for both clinicians and researchers and should guide clinical decision-making and personalized treatment plans. A prime example is myasthenia gravis (MG), an antibody-mediated disease that affects multiple components of the postsynaptic membrane, impairing neuromuscular transmission and producing fatigable muscle weakness. MG is characterized by several clinical phenotypes, defined by a broad spectrum of factors, which have contributed to the current lack of consensus on the optimal management and treatments of this disease and its related phenotypes (subtypes). This represents a crucial challenge in MG and encourages a revolutionary change in diagnostic, prognostic and therapeutic guidelines. Emerging factors, such as demographic, clinical and pathophysiological factors, must also be considered. Consequently, the different MG phenotypes are characterized by precise biological signatures, which could represent appropriate biomarkers and targets. Here we describe and discuss these new concepts, highlighting that, thanks to multi-omics technologies, the identification of emerging diagnostic/prognostic biomarkers, such as miRNAs, and the subsequent development of new diagnostic/therapeutic algorithms could be facilitated. The latter, in turn, could facilitate the management of different MG phenotypes also in a personalized manner. Limitations and advantages are also reported.</div></div>","PeriodicalId":8664,"journal":{"name":"Autoimmunity reviews","volume":"23 12","pages":"Article 103669"},"PeriodicalIF":9.2,"publicationDate":"2024-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142456939","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-10-15DOI: 10.1016/j.autrev.2024.103668
Fabrizio Luppi , Andreina Manfredi , Paola Faverio , Giovanni Franco , Carlo Salvarani , Elisabeth Bendstrup , Marco Sebastiani
Interstitial lung disease (ILD) is a relevant cause of morbidity and mortality in patients with autoimmune rheumatic diseases (ARDs). In the last years, an acute exacerbation (AE) – defined as an acute, clinically significant respiratory deterioration characterized by evidence of new widespread alveolar abnormality - has been reported to occur in virtually all ILD types, including ARD-ILD. The aim of this review is to describe the available and investigational treatments in patients affected by AE-ARD-ILD in light of the very low quality of evidence available. Currently, management consists of efforts to identify reversible triggers of respiratory decline, such as drugs effective in ARDs and infections, including opportunistic infections, together with supportive treatments. AE-ILD, AE-ARD-ILD and acute respiratory distress syndrome share histopathologically similar findings of diffuse alveolar damage in most cases. Identification of triggers and risk factors might contribute to early diagnosis and treatment of AE-ILD, before the alveolar damage becomes irreversible. In patients with acute respiratory distress syndrome, the role of steroids and immunosuppressants remains controversial. Also, many uncertainties characterize the management of AE-ARD-ILD because of the lack of evidence and of an unquestionable effective therapy. At this time, no effective evidence-based therapeutic strategies for AE–ARD–ILD are available. In clinical practice, AE–ARD–ILD is often empirically treated with high-dose systemic steroids and antibiotics, with or without immunosuppressive drugs.
Randomized controlled trials are needed to better understand the efficacy of current and future drugs for the treatment of this clinical relevant condition.
{"title":"Treatment of acute exacerbation in interstitial lung disease secondary to autoimmune rheumatic diseases: More questions than answers","authors":"Fabrizio Luppi , Andreina Manfredi , Paola Faverio , Giovanni Franco , Carlo Salvarani , Elisabeth Bendstrup , Marco Sebastiani","doi":"10.1016/j.autrev.2024.103668","DOIUrl":"10.1016/j.autrev.2024.103668","url":null,"abstract":"<div><div>Interstitial lung disease (ILD) is a relevant cause of morbidity and mortality in patients with autoimmune rheumatic diseases (ARDs). In the last years, an acute exacerbation (AE) – defined as an acute, clinically significant respiratory deterioration characterized by evidence of new widespread alveolar abnormality - has been reported to occur in virtually all ILD types, including ARD-ILD. The aim of this review is to describe the available and investigational treatments in patients affected by AE-ARD-ILD in light of the very low quality of evidence available. Currently, management consists of efforts to identify reversible triggers of respiratory decline, such as drugs effective in ARDs and infections, including opportunistic infections, together with supportive treatments. AE-ILD, AE-ARD-ILD and acute respiratory distress syndrome share histopathologically similar findings of diffuse alveolar damage in most cases. Identification of triggers and risk factors might contribute to early diagnosis and treatment of AE-ILD, before the alveolar damage becomes irreversible. In patients with acute respiratory distress syndrome, the role of steroids and immunosuppressants remains controversial. Also, many uncertainties characterize the management of AE-ARD-ILD because of the lack of evidence and of an unquestionable effective therapy. At this time, no effective evidence-based therapeutic strategies for AE–ARD–ILD are available. In clinical practice, AE–ARD–ILD is often empirically treated with high-dose systemic steroids and antibiotics, with or without immunosuppressive drugs.</div><div>Randomized controlled trials are needed to better understand the efficacy of current and future drugs for the treatment of this clinical relevant condition.</div></div>","PeriodicalId":8664,"journal":{"name":"Autoimmunity reviews","volume":"23 12","pages":"Article 103668"},"PeriodicalIF":9.2,"publicationDate":"2024-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142445964","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-10-11DOI: 10.1016/j.autrev.2024.103667
Haiyang Zhang , Yuting Liu , Zixiang Zhang , Mengda Jiang , Xiaofeng Tao , Xin Ning Lee , Zilin Fang , Xuefei Song , Rona Z. Silkiss , Xianqun Fan , Huifang Zhou
Thyroid eye disease (TED) is an organ-specific autoimmune disease secondary largely to hyperthyroid Graves' disease, which profoundly affects patients' visual function, appearance, and physical and mental well-being. Emerging neuroimaging studies have reported alterations in the brains of patients with TED, suggesting that the impact of this autoimmune disease may extend beyond the orbit. This systematic review aims to consolidate the neuroimaging evidence that describes the brain alterations of TED. We analyzed information from thirty-one related studies involving 1349 TED patients and 710 healthy controls, employing multimodal neuroimaging techniques such as structural magnetic resonance imaging (MRI), functional MRI, diffusion MRI, and metabolic MRI. These studies define the brain alterations in regions associated with vision, cognition, and emotion regulation, such as gray matter volume changes, altered functional connectivity and activity, and microstructural modifications, revealing the neurological impact of TED beyond the orbit. Notably, there was convergence across these studies indicating predominant abnormalities within the occipital and parietal lobes. This review underscores the critical role of advanced neuroimaging techniques in unraveling the complex neuropathological mechanism of TED, laying a foundation for future research and potential therapeutic targets.
{"title":"Neuroimaging in thyroid eye disease: A systematic review","authors":"Haiyang Zhang , Yuting Liu , Zixiang Zhang , Mengda Jiang , Xiaofeng Tao , Xin Ning Lee , Zilin Fang , Xuefei Song , Rona Z. Silkiss , Xianqun Fan , Huifang Zhou","doi":"10.1016/j.autrev.2024.103667","DOIUrl":"10.1016/j.autrev.2024.103667","url":null,"abstract":"<div><div>Thyroid eye disease (TED) is an organ-specific autoimmune disease secondary largely to hyperthyroid Graves' disease, which profoundly affects patients' visual function, appearance, and physical and mental well-being. Emerging neuroimaging studies have reported alterations in the brains of patients with TED, suggesting that the impact of this autoimmune disease may extend beyond the orbit. This systematic review aims to consolidate the neuroimaging evidence that describes the brain alterations of TED. We analyzed information from thirty-one related studies involving 1349 TED patients and 710 healthy controls, employing multimodal neuroimaging techniques such as structural magnetic resonance imaging (MRI), functional MRI, diffusion MRI, and metabolic MRI. These studies define the brain alterations in regions associated with vision, cognition, and emotion regulation, such as gray matter volume changes, altered functional connectivity and activity, and microstructural modifications, revealing the neurological impact of TED beyond the orbit. Notably, there was convergence across these studies indicating predominant abnormalities within the occipital and parietal lobes. This review underscores the critical role of advanced neuroimaging techniques in unraveling the complex neuropathological mechanism of TED, laying a foundation for future research and potential therapeutic targets.</div></div>","PeriodicalId":8664,"journal":{"name":"Autoimmunity reviews","volume":"23 12","pages":"Article 103667"},"PeriodicalIF":9.2,"publicationDate":"2024-10-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142445910","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-10-09DOI: 10.1016/j.autrev.2024.103654
Hongli Wang , Yueshu Cai , Wenqi Wu , Miaomiao Zhang , Yong Dai , Qingwen Wang
As the industrialized society advances, there has been a gradual increase in the prevalence of autoimmune disorders. A probe into the fundamental causes has disclosed several factors in modern society that have an influence on the gut microbiome. These dramatic shifts in the gut microbiome are likely to be one of the reasons for the disarray in the immune system, and the relationship between the immune system and the gut microbiome emerging as a perennial hot topic of research. This review enumerates the findings from sequencing studies of gut microbiota on seven autoimmune diseases (ADs): Rheumatoid Arthritis (RA), Systemic Lupus Erythematosus (SLE), Ankylosing Spondylitis (AS), Systemic Sclerosis (SSc), Sjögren's Syndrome (SjS), Juvenile Idiopathic Arthritis (JIA), and Behçet's Disease (BD). It aims to identify commonalities in changes in the gut microbiome within the autoimmune disease cohort and characteristics specific to each disease. The dysregulation of the gut microbiome involves a disruption of the internal balance and the balance between the external environment and the host. This dysregulation impacts the host's immune system, potentially playing a role in the development of ADs. Damage to the gut epithelial barrier allows potential pathogens to translocate to the mucosal layer, contacting epithelial cells, disrupting tight junctions, and being recognized by antigen-presenting cells, which triggers an immune response. Primed T-cells assist B-cells in producing antibodies against pathogens; if antigen mimicry occurs, an immune response is generated in extraintestinal organs during immune cell circulation, clinically manifesting as ADs. However, current research is limited; advancements in sequencing technology, large-scale cohort studies, and fecal microbiota transplantation (FMT) research are expected to propel this field to new peaks.
随着工业化社会的发展，自身免疫性疾病的发病率逐渐上升。对其根本原因的调查显示，现代社会中有几个因素对肠道微生物组产生了影响。肠道微生物组的这些剧烈变化很可能是导致免疫系统混乱的原因之一，而免疫系统与肠道微生物组之间的关系也成为一个长期的研究热点。本综述列举了有关七种自身免疫性疾病（ADs）的肠道微生物群测序研究结果：类风湿关节炎（RA）、系统性红斑狼疮（SLE）、强直性脊柱炎（AS）、系统性硬化症（SSc）、斯约格伦综合征（SjS）、幼年特发性关节炎（JIA）和白塞氏病（BD）。该研究旨在确定自身免疫性疾病队列中肠道微生物组变化的共性以及每种疾病的特性。肠道微生物组的失调会破坏内部平衡以及外部环境与宿主之间的平衡。这种失调会影响宿主的免疫系统，有可能导致急性肠道疾病的发生。肠道上皮屏障受损会使潜在病原体转移到粘膜层，接触上皮细胞，破坏紧密连接，并被抗原递呈细胞识别，从而引发免疫反应。被激活的 T 细胞协助 B 细胞产生针对病原体的抗体；如果发生抗原模仿，则在免疫细胞循环过程中，肠外器官会产生免疫反应，在临床上表现为 ADs。然而，目前的研究还很有限；测序技术、大规模队列研究和粪便微生物群移植（FMT）研究的进步有望将这一领域推向新的高峰。
{"title":"Exploring the role of gut microbiome in autoimmune diseases: A comprehensive review","authors":"Hongli Wang , Yueshu Cai , Wenqi Wu , Miaomiao Zhang , Yong Dai , Qingwen Wang","doi":"10.1016/j.autrev.2024.103654","DOIUrl":"10.1016/j.autrev.2024.103654","url":null,"abstract":"<div><div>As the industrialized society advances, there has been a gradual increase in the prevalence of autoimmune disorders. A probe into the fundamental causes has disclosed several factors in modern society that have an influence on the gut microbiome. These dramatic shifts in the gut microbiome are likely to be one of the reasons for the disarray in the immune system, and the relationship between the immune system and the gut microbiome emerging as a perennial hot topic of research. This review enumerates the findings from sequencing studies of gut microbiota on seven autoimmune diseases (ADs): Rheumatoid Arthritis (RA), Systemic Lupus Erythematosus (SLE), Ankylosing Spondylitis (AS), Systemic Sclerosis (SSc), Sjögren's Syndrome (SjS), Juvenile Idiopathic Arthritis (JIA), and Behçet's Disease (BD). It aims to identify commonalities in changes in the gut microbiome within the autoimmune disease cohort and characteristics specific to each disease. The dysregulation of the gut microbiome involves a disruption of the internal balance and the balance between the external environment and the host. This dysregulation impacts the host's immune system, potentially playing a role in the development of ADs. Damage to the gut epithelial barrier allows potential pathogens to translocate to the mucosal layer, contacting epithelial cells, disrupting tight junctions, and being recognized by antigen-presenting cells, which triggers an immune response. Primed T-cells assist B-cells in producing antibodies against pathogens; if antigen mimicry occurs, an immune response is generated in extraintestinal organs during immune cell circulation, clinically manifesting as ADs. However, current research is limited; advancements in sequencing technology, large-scale cohort studies, and fecal microbiota transplantation (FMT) research are expected to propel this field to new peaks.</div></div>","PeriodicalId":8664,"journal":{"name":"Autoimmunity reviews","volume":"23 12","pages":"Article 103654"},"PeriodicalIF":9.2,"publicationDate":"2024-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142387552","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-10-05DOI: 10.1016/j.autrev.2024.103653
Piero Ruscitti , Marcella Nunziato , Francesco Caso , Raffaele Scarpa , Federica Di Maggio , Roberto Giacomelli , Francesco Salvatore
Most of the chronic-degenerative diseases deserve a very early recognition of symptoms and signs for the earliest secondary prevention, which could be also very useful in many cases for the most precocious clinical approach. The periodic monitoring of a subject at risk of a specific disease, because of genomic predisposition by predictive medicine approach, may help to earlier detection of onset and/or the progression of the pathology itself, through intra-individual monitoring. This is particularly the case of rheumatoid arthritis (RA) for which an early diagnosis is undoubtedly the first step to ensure the most proper therapy for the patient. Thus, the earlier identification of individuals at high risk of RA could lead to ultra-preventive strategies to start for the best lifestyle performances and/or for any other effective therapeutic interventions to contrast the onset, and/or the evolution of the putative RA. This will also optimize both costs and medical resources, according to the health care policies of many countries.
{"title":"Prevention of rheumatoid arthritis using a familial predictive medicine approach","authors":"Piero Ruscitti , Marcella Nunziato , Francesco Caso , Raffaele Scarpa , Federica Di Maggio , Roberto Giacomelli , Francesco Salvatore","doi":"10.1016/j.autrev.2024.103653","DOIUrl":"10.1016/j.autrev.2024.103653","url":null,"abstract":"<div><div>Most of the chronic-degenerative diseases deserve a very early recognition of symptoms and signs for the earliest secondary prevention, which could be also very useful in many cases for the most precocious clinical approach. The periodic monitoring of a subject at risk of a specific disease, because of genomic predisposition by predictive medicine approach, may help to earlier detection of onset and/or the progression of the pathology itself, through intra-individual monitoring. This is particularly the case of rheumatoid arthritis (RA) for which an early diagnosis is undoubtedly the first step to ensure the most proper therapy for the patient. Thus, the earlier identification of individuals at high risk of RA could lead to ultra-preventive strategies to start for the best lifestyle performances and/or for any other effective therapeutic interventions to contrast the onset, and/or the evolution of the putative RA. This will also optimize both costs and medical resources, according to the health care policies of many countries.</div></div>","PeriodicalId":8664,"journal":{"name":"Autoimmunity reviews","volume":"23 12","pages":"Article 103653"},"PeriodicalIF":9.2,"publicationDate":"2024-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142380000","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-10-05DOI: 10.1016/j.autrev.2024.103656
Riccardo Terribili, Edoardo Conticini, Silvia Grazzini, Luca Cantarini, Bruno Frediani
Takayasu's arteritis is a rare large vessel vasculitis typically affecting young Asian women. It causes inflammation of the aorta and its major branches, leading to stenosis and aneurysmal dilations, and increasing cardiovascular morbidity due to accelerated atherosclerosis. Although glucocorticoids are effective for acute disease control and preliminary data on immunosuppressive drugs are promising, standardized treatment protocols are lacking. The use of prophylactic treatments with antihypertensives, antiplatelets, anticoagulants, and lipid-lowering drugs to prevent thrombotic and ischemic complications remains debated. This study reviews the evidence on the effectiveness of non-immunosuppressive medical therapy in Takayasu's arteritis. A search of the PubMed database identified eleven studies involving 204 patients. Antiplatelets: data on 68 patients were mixed, in fact low-dose aspirin did not prevent major cardiovascular events in 36 patients, but higher doses reduced ischemic complications in 24 patients. Anticoagulants: no data on new oral anticoagulants were available, and vitamin K antagonists in 9 patients did not alter cardiovascular complications. Antihypertensives: ACE-inhibitors controlled blood pressure in patients with renovascular hypertension but increased the risk of acute renal function decline, while β-blockers reduced the symptoms and the progression of myocardial hypertrophy in patients with heart failure and aortic regurgitation. Statins: data from two cohorts showed that while statins reduced the recurrence rate of arteritis in 30 patients, they did not affect recurrence rates or cardiovascular complications in 13 patients. Overall, current evidence, although not definitive, supports the use of non-immunosuppressive medical treatments to prevent long-term complications and damage in Takayasu's arteritis, considering the disease's pathophysiological mechanisms and increased cardiovascular risk. Further research is strongly encouraged.
{"title":"Impact of non-immunosuppressive medical therapy on disease progression and complications of Takayasu arteritis: A narrative review","authors":"Riccardo Terribili, Edoardo Conticini, Silvia Grazzini, Luca Cantarini, Bruno Frediani","doi":"10.1016/j.autrev.2024.103656","DOIUrl":"10.1016/j.autrev.2024.103656","url":null,"abstract":"<div><div>Takayasu's arteritis is a rare large vessel vasculitis typically affecting young Asian women. It causes inflammation of the aorta and its major branches, leading to stenosis and aneurysmal dilations, and increasing cardiovascular morbidity due to accelerated atherosclerosis. Although glucocorticoids are effective for acute disease control and preliminary data on immunosuppressive drugs are promising, standardized treatment protocols are lacking. The use of prophylactic treatments with antihypertensives, antiplatelets, anticoagulants, and lipid-lowering drugs to prevent thrombotic and ischemic complications remains debated. This study reviews the evidence on the effectiveness of non-immunosuppressive medical therapy in Takayasu's arteritis. A search of the PubMed database identified eleven studies involving 204 patients. Antiplatelets: data on 68 patients were mixed, in fact low-dose aspirin did not prevent major cardiovascular events in 36 patients, but higher doses reduced ischemic complications in 24 patients. Anticoagulants: no data on new oral anticoagulants were available, and vitamin K antagonists in 9 patients did not alter cardiovascular complications. Antihypertensives: ACE-inhibitors controlled blood pressure in patients with renovascular hypertension but increased the risk of acute renal function decline, while β-blockers reduced the symptoms and the progression of myocardial hypertrophy in patients with heart failure and aortic regurgitation. Statins: data from two cohorts showed that while statins reduced the recurrence rate of arteritis in 30 patients, they did not affect recurrence rates or cardiovascular complications in 13 patients. Overall, current evidence, although not definitive, supports the use of non-immunosuppressive medical treatments to prevent long-term complications and damage in Takayasu's arteritis, considering the disease's pathophysiological mechanisms and increased cardiovascular risk. Further research is strongly encouraged.</div></div>","PeriodicalId":8664,"journal":{"name":"Autoimmunity reviews","volume":"23 12","pages":"Article 103656"},"PeriodicalIF":9.2,"publicationDate":"2024-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142387553","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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