Pruritus in autoimmune connective tissue diseases
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ABSTRACT:
SUBMITTER: Kim H
PROVIDER: S-EPMC8033328 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:Pruritus is a well-known bothersome symptom among skin disorders, especially inflammatory skin disorders. Lately, a high prevalence of pruritus in patients with autoimmune connective tissue diseases (ACTDs) has been revealed. Patients with ACTDs may suffer from varying degrees of pruritus, which affect their quality of life. However, it is rarely recognized both by patients and physicians. Meanwhile, pruritus is not only a symptom but is also related to the disease severity of some ACTDs. The pathophysiology of ACTD related pruritus is ambiguous. This review summarizes the features and possible mechanisms of ACTD-related pruritus, which might lead to proper diagnosis and treatment.
| S-EPMC9317505 | biostudies-literature
Project description:Autoimmune connective tissue diseases predominantly affect women and often occur during the reproductive years. Thus, specialized issues in pregnancy planning and management are commonly encountered in this patient population. This chapter provides a current overview of pregnancy as a risk factor for onset of autoimmune disease, considerations related to the course of pregnancy in several autoimmune connective tissue diseases, and disease management and medication issues before pregnancy, during pregnancy, and in the postpartum period. A major theme that has emerged across these inflammatory diseases is that active maternal disease during pregnancy is associated with adverse pregnancy outcomes, and that maternal and fetal health can be optimized when conception is planned during times of inactive disease and through maintaining treatment regimens compatible with pregnancy.
| S-EPMC4947513 | biostudies-literature
Project description:Vitamin D is an important hormone involved in various physiologic processes, and its activity is linked to binding with vitamin D receptor (VDR). Genetic polymorphisms in the VDR gene could modulate the expression or function of the receptor and, consequently, alter the effects of vitamin D. Variants in VDR gene have been associated with susceptibility to many illnesses sensitive to vitamin D administration and to autoimmune disorders, but no data are available regarding autoimmune connective tissue diseases in Italian population. We analyzed three VDR polymorphisms in 695 Italian patients with autoimmune connective tissue diseases (308 with systemic lupus erythematosus (SLE), 195 with primary Sjogren's syndrome (pSS), and 192 with rheumatoid arthritis (RA)) and in 246 healthy controls with the aim to evaluate a possible association of VDR SNPs with susceptibility to these diseases in the Italian population. Genotyping of rs2228570, rs7975232, and rs731236 in VDR gene was performed by an allelic discrimination assay. A case/control association study and a genotype/phenotype correlation analysis have been performed. We observed a higher risk to develop SLE for rs2228570 TT genotype (P = 0.029, OR = 1.79). No association was observed between susceptibility to pSS or RA and this SNP, although this variant is significantly less present in RA patients producing autoantibodies. For rs7975232 SNP, we observed a significant association of the variant homozygous genotype with SLE (P = 0.009, OR = 1.82), pSS (P = 0.046, OR = 1.66), and RA (P = 0.028, OR = 1.75) susceptibility. Moreover, we reported associations of this genotype with clinical phenotypes of SLE and pSS. Lastly, the GG genotype of rs731236 was associated with a lower RA susceptibility (P = 0.045, OR = 0.55). Our results show that the explored VDR polymorphisms are significantly associated with autoimmune connective tissue disorders and support the hypothesis that the genetic variability of VDR gene may be involved in susceptibility to these diseases in Italian population.
| S-EPMC8718283 | biostudies-literature
Project description:AimsPatients with autoimmune connective tissue diseases (CTDs) have a high burden of valvular heart disease and are often thought of as high surgical risk patients.Methods and resultsPatients undergoing aortic valve replacement (AVR) were identified in the Nationwide Readmissions Database between January 2012 and December 2018. Patients with a history of systemic lupus erythematosus, rheumatoid arthritis, systemic sclerosis, mixed C, Sjögren syndrome, polymyositis, and dermatomyositis were included in the CTD cohort. Patients undergoing coronary artery bypass grafting concomitantly with AVR were excluded. A total of 569 600 hospitalizations were included, of which16 531 (2.9%) had CTD. CTD patients were more likely to be females, with higher rates of heart failure, pulmonary hypertension, and more likely to be insured by Medicare. CTD patients had lower mortality than non-CTD patients [odds ratio (OR) 0.66; 95% confidence interval (CI): 0.59-0.74] and stroke [OR 0.87; 95% (CI): 0.79-0.97]. CTD patients undergoing SAVR had lower mortality [OR 0.69; 95% (CI): 0.60-0.80] and stroke [OR 0.86; 95% (CI): 0.75-0.98). CTD patients undergoing TAVR had lower mortality outcomes [OR 0.67; 95% (CI): 0.56-0.80]; however, they had comparable stroke outcomes [OR 0.97; 95% (CI): 0.83-1.13, P = 0.69].ConclusionsOutcomes for patients with CTD requiring AVR are not inferior to their non-CTD counterparts. A comprehensive heart team selection of patients undergoing AVR approaches should place CTD history under consideration; however, pre-existing CTD should not be prohibitive of AVR interventions.
| S-EPMC9242052 | biostudies-literature
Project description:Mixed Connective Tissue Disease (MCTD) is a rare complex systemic autoimmune disease (SAD) characterized by the presence of increased levels of anti-U1 ribonucleoprotein autoantibodies and signs and symptoms that resemble other SADs such as systemic sclerosis (SSc), rheumatoid arthritis (RA), and systemic lupus erythematosus (SLE). Due to its low prevalence, this disease has been very poorly studied at the molecular level. We performed for the first time an epigenome-wide association study interrogating DNA methylation data obtained with the Infinium MethylationEPIC array from whole blood samples in 31 patients diagnosed with MCTD and 255 healthy subjects. We observed a pervasive hypomethylation involving 170 genes enriched for immune-related function such as those involved in type I interferon signaling pathways or in negative regulation of viral genome replication. We mostly identified epigenetic signals at genes previously implicated in other SADs, for example MX1, PARP9, DDX60, or IFI44L, for which we also observed that MCTD patients exhibit higher DNA methylation variability compared with controls, suggesting that these sites might be involved in plastic immune responses that are relevant to the disease. Through methylation quantitative trait locus (meQTL) analysis we identified widespread local genetic effects influencing DNA methylation variability at MCTD-associated sites. Interestingly, for IRF7, IFI44 genes, and the HLA region we have evidence that they could be exerting a genetic risk on MCTD mediated through DNA methylation changes. Comparison of MCTD-associated epigenome with patients diagnosed with SLE, or Sjögren's Syndrome, reveals a common interferon-related epigenetic signature, however we find substantial epigenetic differences when compared with patients diagnosed with rheumatoid arthritis and systemic sclerosis. Furthermore, we show that MCTD-associated CpGs are potential epigenetic biomarkers with high diagnostic value. Our study serves to reveal new genes and pathways involved in MCTD, to illustrate the important role of epigenetic modifications in MCTD pathology, in mediating the interaction between different genetic and environmental MCTD risk factors, and as potential biomarkers of SADs.
| S-EPMC6693476 | biostudies-literature
Project description:ImportanceMultiple cases of autoimmune and autoinflammatory diseases after COVID-19 have been reported. However, their incidences and risks have rarely been quantified.ObjectiveTo investigate the incidences and risks of autoimmune and autoinflammatory connective tissue disorders after COVID-19.Design, setting, and participantsThis was a retrospective population-based study conducted between October 8, 2020, and December 31, 2021, that used nationwide data from the Korea Disease Control and Prevention Agency COVID-19 National Health Insurance Service cohort and included individuals who received a diagnosis of COVID-19 via polymerase chain reaction testing and a control group with no evidence of COVID-19 identified from National Health Insurance Service of Korea cohort. Data analysis was conducted from September 2022 to August 2023.ExposuresReceipt of diagnosis of COVID-19.Main outcomes and measuresThe primary outcomes were the incidence and risk of autoimmune and autoinflammatory connective tissue disorders following COVID-19. A total of 32 covariates, including demographics, socioeconomic statuses, lifestyle factors, and comorbidity profiles, were balanced through inverse probability weighting. The incidences and risks of autoimmune and autoinflammatory connective tissue disorders were compared between the groups using multivariable Cox proportional hazard analyses.ResultsA total of 354 527 individuals with COVID-19 (mean [SD] age, 52.24 [15.55] years; 179 041 women [50.50%]) and 6 134 940 controls (mean [SD] age, 52.05 [15.63] years; 3 074 573 women [50.12%]) were included. The risks of alopecia areata (adjusted hazard ratio [aHR], 1.12; 95% CI, 1.05-1.19), alopecia totalis (aHR, 1.74; 95% CI, 1.39-2.17), antineutrophil cytoplasmic antibody-associated vasculitis (aHR, 2.76; 95% CI, 1.64-4.65), Crohn disease (aHR, 1.68; 95% CI, 1.31-2.15), and sarcoidosis (aHR, 1.59; 95% CI, 1.00-2.52) were higher in the COVID-19 group. The risks of alopecia totalis, psoriasis, vitiligo, vasculitis, Crohn disease, ulcerative colitis, rheumatoid arthritis, adult-onset Still disease, Sjögren syndrome, ankylosing spondylitis, and sarcoidosis were associated with the severity of COVID-19.Conclusions and relevanceIn this retrospective cohort study, COVID-19 was associated with a substantial risk for autoimmune and autoinflammatory connective tissue disorders, indicating that long-term management of patients with COVID-19 should include evaluation for such disorders.
| S-EPMC10559181 | biostudies-literature
Project description:ObjectivesAutoimmune connective tissue diseases (ACTDs) commonly involve the shoulder joint; however, clinical epidemiological studies investigating their association with tendons are scant. Rotator cuff (RC) tears can cause shoulder disability, and surgical intervention is usually required. The study investigated RC repair surgery risk in ACTD patients. The effect of anti-inflammatory medication on RC repair surgery risk was also investigated.MethodsWe conducted a retrospective cohort study with a 7-year longitudinal follow-up period. Patients with systemic lupus erythematosus, systemic sclerosis, sicca syndrome, dermatomyositis and polymyositis diagnoses between 2004 and 2008 were enrolled. The control cohort comprised age- and sex-matched controls. The HR and adjusted HR (aHR) were estimated for the risk of RC surgery between ACTD and control cohorts after adjustment for confounders. Furthermore, the effects of steroid and non-steroidal anti-inflammatory drug (NSAID) use on the HR and aHR of RC surgery risk were analysed.ResultsWe enrolled 5019 ACTD patients and 25 095 controls in the ACTD and control cohorts, respectively. RC surgery incidence was 49 and 24 per 100 000 person-years in the ACTD and control cohorts, respectively. In the ACTD cohort, the crude HR for RC surgery was 2.08 (95% CI , 1.08 to 4.02, p<0.05), and the aHR was 1.97 (95% CI, 1.01 to 3.82, p<0.05). The ACTD patients who used NSAIDs had an aHR of 3.13 (95% CI, 1.21 to 8.07, p<0.05) compared with the controls, but the ACTD patients who used steroids did not have a significantly higher aHR than the controls.ConclusionsACTD patients had an increased risk of RC repair surgery. However, no difference was found in RC surgery risk when steroids were used compared with the control cohort. This could indicate that inflammation control may be a strategy for managing subsequent RC lesions.
| S-EPMC6398915 | biostudies-literature
Project description:Peroxisome proliferator-activated receptors (PPAR gamma-2) and beta-3-adrenergic receptors (ADRB3) are involved in the risk of hypertension. But their exact role in blood pressure modulation in patients with connective tissue diseases (CTD) is still not well defined. In this study, 104 patients with CTD and 103 gender- and age-matched controls were genotyped for Pro12Ala and C1431T polymorphisms of the PPAR gamma-2 gene and Trp64Arg polymorphism of the ADRB gene. Anthropometric and biochemical measurements were evaluated, followed by genotyping using TaqMan® SNP genotyping assays and polymerase chain reaction-restriction fragment length polymorphism. The prevalence of analyzed genotypes and alleles was comparable between patients with CTD and the control group, as well as hypertensive and normotensive subjects. Patients with CTD have lower body fat and higher body water amount, serum glucose, and triglyceride (TG) levels. Hypertensive subjects are older and have higher body mass, BMI, waist circumference (WC), body water content, glucose, and TG concentration. The multivariate analysis revealed that hypertensive subjects with Ala12/X or Trp64Trp have higher body mass and WC when compared to normotensive subjects. Trp64Trp polymorphism was also characterized by a higher TG level, while T1431/X subjects had higher WC. The presence of CTD, visceral fat distribution, and increased age are the predictors of hypertension development. Hypertensive patients with CTD and Trp64Trp polymorphism have an increased risk of visceral obesity development and metabolic complications, which in turn affects the value of blood pressure. In addition, either Ala12/X or T1431/X predicts the visceral body fat distribution in hypertensive subjects.
| S-EPMC7023786 | biostudies-literature
Project description:Calciphylaxis, also known as calcific uremic arteriopathy, is a rare calcification syndrome that presents as ischemic skin necrosis and severe pain. It has a high mortality rate and is characterised by calcification of the small and medium arteries and micro-thrombosis. Calciphylaxis mainly occurs in patients with end-stage renal disease. In recent years, there have been an increasing number of cases of calciphylaxis associated with connective tissue diseases. Given the absence of clear diagnostic criteria for calciphylaxis thus far, an early diagnosis is crucial for designing an effective multidisciplinary treatment plan. In this article, we review the research progress on calciphylaxis and describe its characteristics in the context of connective tissue diseases.
| S-EPMC10031236 | biostudies-literature
Project description:Interstitial lung disease (ILD) can occur in any of the connective tissue diseases (CTD) with varying frequency and severity, and an overall long-term prognosis that is less severe than that of idiopathic pulmonary fibrosis (IPF). Because ILD may be the presenting manifestation of CTD and/or the dominant manifestation of CTD, clinical extra-thoracic manifestations should be systematically considered in the diagnostic approach of ILD. When present, autoantibodies strongly contribute to the recognition and classification of the CTD. Patients with clinical extrathoracic manifestations of CTD and/or autoantibodies (especially with a high titer and/or the antibody is considered "highly specific" of an autoimmune condition), but who do not fit with established international CTD criteria may be called undifferentiated CTD or "lung-dominant CTD". Although it remains to be determined which combination of symptoms and serologic tests best identify the subset of patients with clinically relevant CTD features, available evidence suggests that such patients may have distinct clinical and imaging presentation and may portend a distinct clinical course. However, autoantibodies alone when present in IPF patients do not seem to impact prognosis or management. Referral to a rheumatologist and multidisciplinary discussion may contribute to management of patients with undifferentiated CTD.
| S-EPMC9487358 | biostudies-literature