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BACKGROUND: The Manhattan Lupus Surveillance Program (MLSP), a population-based retrospective registry of patients with systemic lupus erythematosus (SLE), was used to investigate the prevalence of cardiovascular disease events (CVE) and compare rates among sex, age and race/ethnicity to population-based controls. METHODS: Patients with prevalent SLE in 2007 aged ≥ 20 years in the MLSP were included. CVE required documentation of a myocardial infarction or cerebrovascular accident. We calculated crude risk ratios and adjusted risk ratios (ARR) controlling for sex, age group, race and ethnicity, and years since diagnosis. Data from the 2009-2010 National Health and Nutrition Examination Survey (NHANES) and the 2013-2014 NYC Health and Nutrition Examination Survey (NYC HANES) were used to calculate expected CVE prevalence by multiplying NHANES and NYC HANES estimates by strata-specific counts of patients with SLE. Crude prevalence ratios (PRs) using national and NYC estimates and age standardized prevalence ratios (ASPRs) using national estimates were calculated. RESULTS: CVE occurred in 13.9% of 1,285 MLSP patients with SLE, and risk was increased among men (ARR:1.7, 95%CI:1.2-2.5) and older adults (age > 60 ARR:2.5, 95%CI:1.7-3.8). Compared with non-Hispanic Asian patients, CVE risk was elevated among Hispanic/Latino (ARR:3.1, 95%CI:1.4-7.0) and non-Hispanic Black (ARR:3.5, 95%CI1.6-7.9) patients as well as those identified as non-Hispanic and in another or multiple racial groups (ARR:4.2, 95%CI:1.1-15.8). Overall, CVE prevalence was higher among patients with SLE than nationally (ASPR:3.1, 95%CI:3.0-3.1) but did not differ by sex. Compared with national race and ethnicity-stratified estimates, CVE among patients with SLE was highest among Hispanics/Latinos (ASPR:4.3, 95%CI:4.2-4.4). CVE was also elevated among SLE registry patients compared with all NYC residents. Comparisons with age-stratified national estimates revealed PRs of 6.4 (95%CI:6.2-6.5) among patients aged 20-49 years and 2.2 (95%CI:2.1-2.2) among those ≥ 50 years. Male (11.3, 95%CI:10.5-12.1), Hispanic/Latino (10.9, 95%CI:10.5-11.4) and non-Hispanic Black (6.2, 95%CI:6.0-6.4) SLE patients aged 20-49 had the highest CVE prevalence ratios. CONCLUSIONS: These population-based estimates of CVE in a diverse registry of patients with SLE revealed increased rates among younger male, Hispanic/Latino and non-Hispanic Black patients. These findings reinforce the need to appropriately screen for CVD among all SLE patients but particularly among these high-risk patients.

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Background: Systemic lupus erythematosus (SLE) is a chronic autoimmune disorder characterized by a variety of both signs and symptoms; it mainly affects women of childbearing age, with an estimated prevalence of 24/100,000 people in Europe and North America. SLE is often described as an antibodies-driven disease as its clinical manifestations are usually associated with the presence or the absence of specific antibodies. Objectives: To evaluate clinical manifestations in patients with SLE and to assess the relationship with the presence of specific antibodies by using real-world data. Methods: A retrospective study was performed; the 2019 EULAR/ACR Classification Criteria for Systemic Lupus Erythematosus were used to classify patients with SLE. Data concerning serological profiles (which included Antinuclear antibodies - ANA, anti dsDNA, anti-Ro/SS-A, anti-La/SS-B, anti-Smith) were gathered along with medical records of clinical manifestations. Complement levels were also tested for possible clinical correlations. χ² or Fisher's exact tests were utilized to establish associations between autoantibodies and symptoms. The odds ratios (OR) and their 95% confidence intervals (CI) were computed. No correction was made for multiple testing; only a p-value 0.01 ≤ was considered significant. Results: One-hundred and twenty-seven patients (n=127, mean age 53.43 ± 14.02) were enrolled in this study. Anti-dsDNA antibodies were found to be statistically significant for both malar rash and proteinuria; anti-Ro/SSA antibodies showed an association with photosensitivity and pericarditis; furthermore, a strong association was found between anti-Ro antibodies and proteinuria, but only if anti-dsDNA antibodies were present as well. Patients who tested positive for anti-La/SSB antibodies correlated with a threefold increase in the risk of developing pericarditis. Lastly, anti-Smith appeared to be associated with NPSLE as well as an increased risk for both autoimmune hemolytic anemia and thrombocytopenia. Conclusions: In our study, many associations confirmed those found in previous studies; however, new relationships between antibodies and clinical manifestations were found thus indicating the need for additional evaluations to assess these correlations further.

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Systemic lupus erythematosus (SLE) is an autoimmune disease with a variable course with unpredictable flares. Identifying predictors of these flares is essential for monitoring and timely hospital care. To characterize the prevalence of flares within the first five years of SLE diagnosis and determine the clinical and immunological characteristics associated with flare development among patients attending the Rheumatology Clinic at Tikur Anbesa Specialized Hospital (TASH) and Lancet General Hospital. A multicenter, cross-sectional study was conducted from May 2023 to November 2023 at TASH and Lancet General Hospital. The data was collected from electronic medical records and analyzed using SPSS version 26. Logistic regressions were used to determine factors associated with lupus flare. Most patients with SLE were female (95.4%). The most common clinical presentations were musculoskeletal (71.8%), cutaneous (55%), and constitutional (22%). Almost half (44.3%) of the patients had comorbidity illness. Positive ANA test was found in 96.5% of the patients, whereas only 55% had positive anti-dsDNA test. The prevalence of SLE flare in the first five years of SLE diagnosis was 38.9%, and most flares occurred within the first year of diagnosis. Patients with the following characteristics were more likely to have flare-ups: younger age at diagnosis (less than 25 years old), initial presentation with vasculitis, renal flare, and being on low-dose prednisolone. The most common clinical presentations were musculoskeletal, dermatologic, and constitutional manifestations. Age < 25 years at diagnosis, initial clinical presentation with renal manifestation, and being on low-dose prednisolone were predictors of SLE flare. Key Points • This study found a significant gender disparity, with 95% female. • Nearly 39% of patients experienced an SLE flare within the first five years of diagnosis. • Over three-quarters (77%) of flares occurred within the first year of diagnosis. • Age less than 25 years, initial presentation with vasculitis, renal involvement, and being on low-dose prednisolone were identified as predictors of flares.

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OBJECTIVE: To assess organ damage, with emphasis on the cardiovascular system, over the different stages of the disease in a large SLE cohort. METHODS: Multicentre, longitudinal study of a cohort of 4219 patients with SLE enrolled in the Spanish Society of Rheumatology Lupus Registry. Organ damage was ascertained using the Systemic Lupus International Collaborating Clinics/American College of Rheumatology Damage Index (SDI). We longitudinally analysed SDI (globally and for each domain) over time only in the 1274 patients whose dates of damage events had been recorded. RESULTS: During the first year after diagnosis of SLE, 20% of the 1274 patients presented with new damage manifestations. At years 2 and 3, new damage was recorded in 11% and 9% of patients. The annual percentage of patients with new damage after year 5 decreased to 5%. In the first year with the disease, most damage was accumulated in the musculoskeletal, neuropsychiatric and renal systems; in later stages, most damage was in the musculoskeletal, ocular and cardiovascular systems. Considering 'cerebrovascular accident' and 'claudication for 6 months' as cardiovascular items, the cardiovascular system was the second most affected system during the early stages of SLE, with 19% of the patients who presented with damage affected at first year after diagnosis. During the late stages, 20-25% of the patients presenting with new damage did so in this modified cardiovascular domain of the SDI. CONCLUSIONS: New damage occurs mainly during the first year following diagnosis of SLE. Cardiovascular damage is relevant in both the early and the late stages of the disease. Strategies to prevent cardiovascular damage should be implemented early after diagnosis of SLE.

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OBJECTIVE: To determine the occurrence of breakthrough COVID-19 infections (BIs) in patients with systemic lupus erythematosus (SLE) compared with patients with other rheumatic autoimmune diseases (rAIDs), patients with non-rheumatic autoimmune diseases (nrAIDs), and healthy controls (HCs). METHODS: The study was based on data from 7035 fully vaccinated respondents to the online COVAD questionnaire with SLE (N = 852), rAIDs (N = 3098), or nrAIDs (N = 414), and HCs (N = 2671). BI was defined as COVID-19 infection occurring in individuals vaccinated with ≥ 2 doses (or 1 dose of J&J) ≥ 14 days after vaccination and not after 6 months since the last vaccine dose. Data were analysed using linear and logistic regression models. RESULTS: A total of 91/852 (10.7%) SLE patients reported at least one BI. The frequency of BIs in SLE patients was comparable to that among HCs (277/2671; p = 0.847) and patients with nrAID (39/414; p = 0.552) but higher than that among patients with other rAIDs (235/3098; p = 0.005). No demographic factors or treatments were associated with BIs in SLE patients (p ≥ 0.05 for all). Joint pain was more frequent in SLE patients than in HCs (odds ratio [OR]: 3.38; 95% confidence interval [CI]: 1.89-6.04; p < 0.001) or nrAID patients (OR: 2.44; 95% CI: 1.04-5.75; p = 0.041). Patient with SLE did not report a higher frequency of hospitalisation or need for advanced treatment for COVID-19 infection compared with disease controls and HCs, respectively. CONCLUSION: COVID-19 vaccination conferred similar protection against COVID-19 infection in terms of frequency and severity in patients with SLE to that reported by healthy individuals.

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PURPOSE: This study aimed to analyze two decades of consecutive mortality data to investigate cardiovascular deaths in Systemic Lupus Erythematosus (SLE) across the United States (US), identifying patterns and disparities in mortality rates. METHODS: A retrospective analysis was conducted using mortality data from the CDC WONDER database spanning 1999-2020. ICD-10 codes for diseases of circulatory system (I00-I99) and for SLE (M32) were used to identify cardiovascular-related deaths in SLE among adults aged 25 years and older at the time of death. Age-adjusted mortality rates (AAMRs) per 1,000,000 persons were calculated, and trends were assessed using Average Annual Percentage Change (AAPC) and Annual Percent Change (APC) using Joinpoint. Data were stratified by year, sex, race/ethnicity, and geographical regions. RESULTS: Between 1999 and 2020, cardiovascular-related deaths in SLE accounted for 6,548 deaths among adults aged 25 and older in the US. The overall AAMR for cardiovascular-related deaths in SLE decreased from 1.81 in 1999 to 1.53 in 2020, with an AAPC of -1.00 (95% CI: -1.91 to -0.24, p=0.025). A significant decline occurred from 1999 to 2014 with an APC of -3.20 (95% CI: -5.56 to -2.18; p=0.02), followed by a notable increase of 4.73 (95% CI: 0.41 to 18.29, p=0.23) from 2014 to 2020. Women exhibited higher AAMRs compared to men (women: 2.12, men: 0.53). The AAMR decreased for both men and women, with a steeper decline for men from 1999 to 2014 (APC: -4.85 95% CI: -15.58 to -2.62; p<0.02) compared to women in the same period (APC: -2.81 95% CI: -5.78 to -1.73; p<0.03). The Black cohort had a higher AAMR (3.54 95% CI: 3.37 to 3.70), compared to the White cohort (1.12 95% CI: 1.09 to 1.16). The highest mortality was in the Western region (AAMR: 1.60 95% CI: 1.52 to 1.68). Geographically, AAMRs ranged from 0.62 in Massachusetts to 3.11 in Oklahoma. Metropolitan areas had higher AAMRs than Non-metropolitan areas [(1.41 95% CI: 1.37 to 1.45) vs (1.29 95% CI: 1.21 to 1.37)], with a significant mortality reduction in Metropolitan area from 1999-2020 (AAPC: -1.04 95% CI: -1.95 to -0.28, p=0.0064) compared to Non-metropolitan areas in the same time frame (AAPC: -0.86, 95% CI: -2.43 to 0.33 p=0.152). CONCLUSIONS: This analysis highlights notable differences in mortality rates related to cardiovascular deaths in SLE. The target population was adult patients aged 25 and older in the United States. These results are based on demographic and geographic factors. Initially, there was a considerable decrease, but recently the mortality rates have started to rise. This highlights the importance of patient focused interventions to address disparities and improve health outcomes.

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Systemic lupus erythematosus (SLE) is a chronic autoimmune disease that affects women of childbearing age and has been reported to cause sexual dysfunction in women. Although there are articles on sexual function in women with SLE, the number of articles is small, and the factors affecting sexual function in women with SLE are controversial. Based on this, this study aimed to investigate the prevalence of sexual dysfunction in Chinese female SLE patients and to explore the factors that influence it. The study design was a cross-sectional study conducted from December 2023 to April 2024 in the Department of Rheumatology and Immunology of a tertiary hospital in Hefei, Anhui Province. A total of 293 female patients diagnosed with SLE were enrolled using face-to-face questionnaires and online questionnaires. The questionnaire consisted of four parts: general information questionnaire, fatigue severity scale (FSS), depression-anxiety-stress scale (DASS-21), and female sexual functioning index (FSFI) scale. A total of 173 (59.04%) patients had sexual dysfunction, including 251 (85.67%) with decreased libido and 186 (63.46%) with difficulty in sexual arousal. There was a correlation between the patients' total FSFI scores and age (p = 0.028), marital satisfaction (p < 0.001), own education level (p = 0.008), partner's education level (p = 0.003), place of residence (p = 0.039), monthly household income (p < 0.001), family financial satisfaction(p < 0.001), menstrual status (p = 0.003), hormone use (p = 0.021),immunosuppressant use (p = 0.042), disease activity (p = 0.016), FSS score (p < 0.001), stress score (p < 0.001), anxiety score (p < 0.001) and depression score (p < 0.001)were correlated. The results of stepwise regression analysis showed that marital satisfaction (b = 2.011, t = 3.797, p < 0.001), monthly household income (b = 0.854, t = 2.316, p = 0.021), menstrual status (b = 1.218, t = 2.350, p = 0.019), fatigue scale score (b = - 0.069, t = - 2.302, p = 0.022), and depression score (b = - 0.117, t = - 2.910, p = 0.004) were the influencing factors of FSFI total score, and the difference was statistically significant. The incidence of sexual dysfunction in Chinese female SLE patients is high, and medical personnel should pay more attention to patients' sexual problems, to provide theoretical and practical bases for further prevention, treatment, and care of sexual dysfunction in female SLE patients.

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Systemic lupus erythematosus (SLE) affects many populations. This study aims to develop a predictive model and create a nomogram for assessing the risk of end-stage renal disease (ESRD) in patients diagnosed with SLE. Data from electronic health records of SLE patients treated at the Affiliated Hospital of North Sichuan Medical College between 2013 and 2023 were collected. The dataset underwent thorough cleaning and variable assignment procedures. Subsequently, variables were selected using one-way logistic regression and lasso logistic regression methods, followed by multifactorial logistic regression to construct nomograms. The model's performance was assessed using calibration, receiver operating characteristic (ROC), and decision curve analysis (DCA) curves. Statistical significance was set at P < 0.05. The predictive variables for ESRD development in SLE patients included anti-GP210 antibody presence, urinary occult blood, proteinuria, white blood cell count, complement 4 levels, uric acid, creatinine, total protein, globulin, glomerular filtration rate, pH, specific gravity, very low-density lipoprotein, homocysteine, apolipoprotein B, and absolute counts of cytotoxic T cells. The nomogram exhibited a broad predictive range. The ROC area under the curve (AUC) was 0.886 (0.858-0.913) for the training set and 0.840 (0.783-0.897) for the testing set, indicating good model performance. The model demonstrated both applicability and significant clinical benefits. The developed model presents strong predictive capabilities and considerable clinical utility in estimating the risk of ESRD in patients with SLE.

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OBJECTIVES: To compare the sensitivity of 2019 European Alliance of Associations for Rheumatology/American College of Rheumatology (EULAR/ACR) classification criteria against 1997 ACR criteria for systemic lupus erythematosus (SLE), for incident SLE cases in the presumably complete population-based Nor-SLE cohort from Southeast Norway (2.9 million inhabitants). METHODS: All cases International Statistical Classification of Diseases and Related Health Problems, Tenth Revision (ICD-10) coded as SLE during 2000-2017 were individually reviewed. Those with a confirmed SLE diagnosis by expert clinical assessment were included in the Nor-SLE cohort. Core clinical data were recorded, and the cases were classified according to 2019 EULAR/ACR and 1997 ACR criteria. Juvenile SLE was defined as <16 years at diagnosis and adult SLE was defined as ≥16 years at diagnosis. RESULTS: We included 737 incident SLE cases (701 adults, 36 juveniles). At diagnosis, 2019 EULAR/ACR criteria were more sensitive than 1997 ACR criteria for adults (91.6% vs 77.3%; p<0.001), but not for juveniles (97.2% vs 88.9%). The 2019 EULAR/ACR counts at diagnosis differed by age group and ethnicity, being higher in young cases and those originating from Asia. From time of diagnosis to study end the fulfilment rate of 2019 EULAR/ACR criteria for the adult cohort increased from 92.5% and 86.5% to 94.6% and 91.0%, respectively, for females and males (mean disease duration of 7.5 years). CONCLUSION: Showing 92% criteria fulfilment already at time of SLE diagnosis by 2019 EULAR/ACR criteria versus 77% by 1997 ACR criteria, the results from this population-based study suggest that the 2019 EULAR/ACR criteria will achieve its goal of capturing more early-SLE cases for clinical trials.

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Background: Systemic lupus erythematosus (SLE) is a chronic autoimmune disease that can affect multiple organs and body systems. Objective: To describe the sociodemographic, clinical, and biochemical characteristics of the Lupus-IMMS-Mexico (LUPUS-IMMex) patient cohort from a tertiary-level center. Material and methods: Observational descriptive study of 160 patients with diagnosis of SLE belonging to the aforementioned cohort. Various variables were analyzed at the time of diagnosis. For quantitative variables, normality tests were applied, followed by measures of central tendency and dispersion according to their distribution. For categorical variables, frequencies and percentages were calculated. Results: 81.87% of the patients were female, with a median age at diagnosis of 28 years. 18.12% had a family history of SLE, and concurrently with SLE, 32.50% had hypertension, and 11.25% had antiphospholipid syndrome. The most common clinical manifestation was joint involvement (68.12%), renal (49.37%) and hematological (43.75%) manifestations. Conclusions: SLE affects millions globally. Lack of awareness leads to delayed diagnoses, suboptimal management, and diminished quality of life. After analyzing 160 patients with SLE, their clinical, socioeconomic, and therapeutic characteristics are largely like other cohorts, with differences attributable to ethnic and geographical influences. Informing patients about SLE and providing reliable resources are essential for self-care. Awareness promotes research, therapies, and enhances medical care and the lives of patients globally.

Introducción: el lupus eritematoso sistémico (LES) es una enfermedad autoinmunitaria crónica que puede afectar a múltiples órganos y sistemas del cuerpo. Objetivo: describir las características sociodemográficas, clínicas y bioquímicas de la cohorte de pacientes Lupus-IMMS-México (LUPUS-IMMex) de un hospital de tercer nivel. Material y métodos: estudio descriptivo observacional de 160 pacientes con diagnóstico de LES de la cohorte mencionada. Se analizaron diversas variables al momento del diagnóstico. Para variables cuantitativas se aplicaron pruebas de normalidad y posteriormente medidas de tendencia central y dispersión de acuerdo con su distribución. Para variables categóricas se calcularon frecuencias y porcentajes. Resultados: 81.87% de los pacientes fueron del sexo femenino, con mediana de edad al diagnóstico de 28 años. El 18.12% tenían antecedentes familiares de LES y concomitante al LES, hipertensión (32.50%) y síndromes antifosfolípidos (11.25%). Las afecciones clínicas más frecuentes fueron la articular (68.12%), la renal (49.37%) y la hematológica (43.75%). Conclusiones: el LES afecta a millones de personas globalmente. La falta de conciencia lleva a diagnósticos tardíos, manejo deficiente y baja calidad de vida. Tras analizar 160 pacientes con LES, sus características clínicas, socioeconómicas y terapéuticas son mayormente similares a otras cohortes, con diferencias atribuibles a influencias étnicas y geográficas. Informar a los pacientes sobre el LES y brindar recursos confiables es esencial para el autocuidado. La sensibilización fomenta la investigación, las terapias y mejora la atención médica y la vida de pacientes a nivel global.

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OBJECTIVES: The primary objective of this prospective cohort study was to assess the usefulness of a predefined multidisciplinary care pathway-based management on pregnancy outcome(s) in women with SLE who already had at least one adverse obstetric outcome(s). METHODS: Between March 2010 and March 2023, all consecutive, consenting women with SLE who already had at least one previous adverse obstetric outcome (preterm labour, pre-eclampsia, termination of pregnancy, miscarriage, intrauterine growth retardation (IUGR), preterm birth, low birth weight (LBW), intrauterine death (IUD) or stillbirth] were prospectively screened and counselled. The protocol comprised preconception and post-natal drug and disease status review, periodic ante-natal visits for the monitoring of pregnancy and drug and disease status review and post-natal drug and disease status review and contraception advice. Therapeutic changes were made as necessary at each visit. RESULTS: A total of 213 women were screened and 197 women (age, 28 ± 6.34 years) were enrolled who had 226 pregnancies. Previous poor obstetric outcomes were miscarriage(s), 186; termination of pregnancy, 4; preterm labour, 51; IUGR, 36; IUD or stillbirth, 16; low birth weight (LBW), 44 and pre-eclampsia, 4. Seventy-seven (39%) women had secondary APS and 37 (19%) had a history of lupus nephritis. There were 194/226 (86%) live births [40 LBW (18%); caesarean section in 101 (45%)]. Thirty pregnancies culminated in miscarriages and 2 in IUDs (14%). Sixty-eight patients (30%) experienced lupus flare during pregnancy (36 mild, 20 moderate and 8 severe). CONCLUSION: Our experience underscores the usefulness of a predefined multidisciplinary care pathway-based management for improving pregnancy outcomes in women with SLE who had previous adverse outcomes. Key Points • In women with SLE who had previous adverse obstetric outcome(s) a risk of poor outcome in subsequent pregnancy remains. • Good pregnancy outcomes in these women could be achieved by predefined  multidisciplinary care pathways focussed on addressing all relevant issues. • Improved access to rheumatology services and collaboration between rheumatologists and obstetricians is key to improving outcomes in SLE pregnancies.

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OBJECTIVES: The aim of this study was to determine the prevalence of restless leg syndrome (RLS) among patients with SLE, describe their clinical characteristics, examine its impact on health-related quality of life (HRQoL), and evaluate its association with depression. METHODS: A total of 124 SLE patients were recruited, with data on demographics, and clinical features collected. RLS diagnosis was based on the international RLS study group criteria, while depression was assessed by the patient health questionnaire. HRQoL was assessed by a disease-specific validated questionnaire, the LupusQoL, pain intensity was examined through the pain visual analogue scale, and disease activity was evaluated via the patient global assessment. These variables were compared between SLE patients with RLS and without RLS using t-tests or Wilcoxon and the chi-square test of independence for categorical variables. A p-value ≤0.05 was considered statistically significant. RESULTS: Among the SLE patients (mean age 48, 87.1 % women), 32 % had RLS. The SLE patients with RLS were found to have a longer delay in diagnosis (1 vs 0.5 years; p = 0.019) and were less likely to be employed (65 % vs 45 %, p = 0.040) compared to non-RLS patients. In addition, RLS patients were more likely to have coexisting Major Depressive Disorder (MDD) (p = 0.019), higher levels of pain (p = 0.006) and disease activity based on patient global assessment (p = 0.014). Further, most of the domains of LupusQoL were significantly lower in the RLS patients group suggesting a worse HRQoL. CONCLUSION: RLS was present in one-third of the SLE cohort, significantly impairing HRQoL and correlating with depression, higher pain, and increased disease activity. These findings underscore the importance of early RLS detection and management in SLE patients.

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OBJECTIVE: The aim of this study was to characterize childhood-onset systemic lupus erythematosus (SLE) in two large cohorts from Turkey and the United States. METHODS: Patients diagnosed with childhood-onset SLE who fulfilled the 1997 American College of Rheumatology classification criteria for SLE from four reference centers in Turkey and the University of Pittsburgh School of Medicine in the United States were included in this study. A comparative analysis was conducted to evaluate the similarities and differences in clinical and laboratory features, damage accrual, and treatment experiences between the two populations. RESULTS: A total of 174 patients with childhood-onset SLE were included in this study (108 patients from Turkey and 66 patients from the United States). The female-to-male ratio was similar between the two cohorts (∼3:1, p = .73). The median age at diagnosis was 11.67 years (2.19-17.93) in the Turkish cohort and 13.68 years (2.74-17.93) in the U.S. cohort (p < .001). Photosensitivity (45.4% and 21.2%; p = .007) and renal involvement (41.7% and 36.4%; p = .045) were higher in the Turkish cohort. Anti-Ro/SSA (34.8% and 15.7%; p < .001), anti-Sm (59.1% and 19.4%; p < .001), and anti-RNP (47.0% and 14.8%; p < .001) positivity was more frequent in the U.S. cohort. Current use of rituximab (37.9% and 1.9%; p < .001) and belimumab (19.7% and 0%; p < .001) was more prevalent in the U.S. cohort, while the use of cyclophosphamide (often according to the low dose Euro-Lupus protocol) throughout the disease course (24.1% and 4.5%; p < .001) was more frequent in the Turkish cohort. SLICC/ACR Damage Index scores were not different between the two cohorts. CONCLUSION: This study provides detailed clinical and laboratory features of childhood-onset SLE in two independent and geographically divergent cohorts. Our findings suggest an earlier age of disease onset and a higher prevalence of kidney involvement in Turkish patients. Differences in treatment approaches were also noted. However, damage accrual related to SLE does not appear to be different between the two patient populations.

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Patients with primary biliary cholangitis (PBC) commonly experience extrahepatic rheumatic diseases. However, the epidemiologic and genetic associations as well as causal relationship between PBC and these extrahepatic conditions remain undetermined. In this study, we first conducted systematic review and meta-analyses by analyzing 73 studies comprising 334,963 participants across 17 countries and found strong phenotypic associations between PBC and rheumatic diseases. Next, we utilized large-scale genome-wide association study summary data to define the shared genetic architecture between PBC and rheumatic diseases, including rheumatoid arthritis (RA), systemic lupus erythematosus (SLE), systemic sclerosis (SSc) and Sjögren's syndrome (SS). We observed significant genetic correlations between PBC and each of the four rheumatic diseases. Pleiotropy and heritability enrichment analysis suggested the involvement of humoral immunity and interferon-associated processes for the comorbidity. Of note, we identified four variants shared between PBC and RA (rs80200208), SLE (rs9843053), and SSc (rs27524, rs3873182) using cross-trait meta-analysis. Additionally, several pleotropic loci for PBC and rheumatic diseases were found to share causal variants with gut microbes possessing immunoregulatory functions. Finally, Mendelian randomization revealed consistent evidence for a causal effect of PBC on RA, SLE, SSc, and SS, but no or inconsistent evidence for a causal effect of extrahepatic rheumatic diseases on PBC. Our study reveals a profound genetic overlap and causal relationships between PBC and extrahepatic rheumatic diseases, thus providing insights into shared biological mechanisms and novel therapeutic interventions.

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BACKGROUND: Previous studies have implicated rheumatoid arthritis as an independent risk factor for bone density loss. However, whether there is a causal relationship between rheumatic diseases and bone mineral density (BMD) and fractures is still controversial. We employed a bidirectional Mendelian analysis to explore the causal relationship between rheumatic diseases and BMD or fractures. METHODS: The rheumatic diseases instrumental variables (IVs) were obtained from a large Genome-wide association study (GWAS) meta-analysis dataset of European descent. Analyses were performed for the three rheumatic diseases: ankylosing spondylitis (AS) (n = 22,647 cases, 99,962 single nucleotide polymorphisms [SNPs]), rheumatoid arthritis (RA) (n = 58,284 cases, 13,108,512 SNPs), and systemic lupus erythematosus (SLE) (n = 14,267 cases, 7,071,163 SNPs). Two-sample Mendelian randomization (MR) analyses were carried out by using R language TwoSampleMR version 0.5.7. The inverse-variance weighted (IVW), MR-Egger, and weighted median methods were used to analyze the causal relationship between rheumatic diseases and BMD or fracture. RESULTS: The MR results revealed that there was absence of evidence for causal effect of AS on BMD or fracture. However, there is a positive causal relationship of RA with fracture of femur (95% CI = 1.0001 to 1.077, p = 0.046), and RA and fracture of forearm (95% CI = 1.015 to 1.064, p = 0.001). SLE had positive causal links for fracture of forearm (95% CI = 1.004 to 1.051, p = 0.020). Additionally, increasing in heel bone mineral density (Heel-BMD) and total bone mineral density (Total-BMD) can lead to a reduced risk of AS without heterogeneity or pleiotropic effects. The results were stable and reliable. There was absence of evidence for causal effect of fracture on RA (95% CI = 0.929 to 1.106, p = 0.759), and fracture on SLE (95% CI = 0.793 to 1.589, p = 0.516). CONCLUSIONS: RA and SLE are risk factors for fractures. On the other hand, BMD increasing can reduce risk of AS. Our results indicate that rheumatic diseases may lead to an increased risk of fractures, while increased BMD may lead to a reduced risk of rheumatic diseases. These findings provide insight into the risk of BMD and AS, identifying a potential predictor of AS risk as a reduction in BMD.

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OBJECTIVE: We employed two-sample Mendelian randomization (MR) to assess the genetic causal relationship between educational attainment (EA) and risk of five common connective tissue diseases (CTDs). METHODS: Educational attainment (self-reported at age ≥30 years) was obtained from a meta-analysis of years of schooling in 766 345 participants of European ancestry from genome-wide association studies (GWAS). A total of 1265 signals associated with EA were identified. Genetic data for five CTDs [rheumatoid arthritis (RA), systemic lupus erythematosus (SLE), systemic sclerosis (SSc), polymyositis (PM), and dermatomyositis (DM)] were obtained from the FinnGen consortium. Two-sample MR analyses were performed separately for EA and the five CTDs. RESULTS: We found a negative causal relationship between EA and RA (ORIVW = 0.627, 95% CI = 0.537-0.732, p < .001), and SLE (ORIVW = 0.341, 95% CI = 0.123-0.944, p = .038). There were no genetic causal association between EA and SSc (ORIVW = 0.647, 95% CI = 0.351-1.195, p = .164), PM (ORIVW = 0.938, 95% CI = 0.320-2.746, p = .907), or DM (ORIVW = 0.754, 95% CI = 0.351-1.619, p = .468). None of the analyses revealed any horizontal pleiotropy or heterogeneity. CONCLUSION: Our findings indicated a potential causal association between EA and RA, SLE, emphasizing the need for further investigation and potential integration of EA into clinical practice to enhance treatment strategies.

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Introduction Autoimmune hepatitis (AIH) has scarcely been reported on in patients of black African descent. Similarly, few studies have focused on the relationship between AIH and Human-Immunodeficiency Virus (HIV) infection. Aim We aim to describe the presenting features of AIH from a single referral centre in a Sub-Sahara African setting. We also compare the presenting features of HIV-infected and HIV-uninfected patients. Methods This study was a retrospective chart review. Patients were included if they fulfilled criteria for the International AIH Group simplified score for probable or definite AIH, were 18 years or older at inclusion, and attended the adult Gastroenterology clinic at Inkosi Albert Luthuli Central Hospital (IALCH) for the period 1/1/2015 to 31/12/2020 on at least 2 occasions. Results Forty cases were included, of which 33 (82.5%) were female and 33 (82.5%) were black African. Median age at diagnosis was 26 years. A diagnosis of a coexistent autoimmune disease was made in 22.5% of patients, with Systemic Lupus Erythematosus (SLE) being the most common (12.5%). Sixteen patients were HIV-infected, all of whom were female (p =0.03), with a significantly older age of disease onset as compared to their HIV-uninfected counterparts (median age 38 vs 17.5 years, p <0.001). Conclusion AIH is a disease most commonly affecting young females. Female sex and older age of onset is associated with AIH in HIV-infected individuals.

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BACKGROUND: The incidence of skin cancer in patients with systemic lupus erythematosus (SLE) and systemic sclerosis (SSc) has only been investigated with retrospective studies enrolling a low number of patients. The aims of our study were to assess the incidence of skin cancer in two large cohorts of patients, one with SLE and the other with SSc and investigating possible risk factors. METHODS: Ninety SLE, 53 SSc patients and 392 control subjects were enrolled. A questionnaire including personal and medical details was fulfilled. The severity of photoaging, photosensitivity and sun exposure habits was assessed. Skin lesions were evaluated using a video-dermatoscope. Suspicious lesions were surgically removed. RESULTS: The incidence of skin cancer was not different to those of controls. However, a decrease in the incidence of basal cell carcinoma was found in patients with SLE. This finding associated negatively with photosensitivity. SSc patients with skin malignancies did not report photosensitivity and did not adopt a careful photoprotection. A positive association was found between skin cancer and diffuse cutaneous sclerosis, pitting scars, severe photoaging and treatment with Iloprost. CONCLUSIONS: Regular avoidance of sun exposure and photoprotection are effective in reducing the development of skin cancer in patients with autoimmune diseases.

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OBJECTIVE: To obtain updated estimates on the incidence and prevalence of systemic lupus erythematosus (SLE) in the UK, over the period 1990-2020, using the Clinical Practice Research Datalink (CPRD). METHODS: This was a retrospective cohort study using the CPRD covering the period 1990-2020. A case ascertainment algorithm was developed in line with best practice recommendations for observational research. Incidence was calculated per 100 000 person-years and point prevalence (at the mid-year point) calculated per 100 000. Results were stratified by sex. RESULTS: 9443 SLE cases were identified. 5278 incident cases were identified (4538 women, 740 men). The overall incidence rate was 5.47 (95% CI 5.33 to 5.62) cases per 100 000 person-years. Incidence rates decreased slightly across the study period, which was more pronounced for women than men. Point prevalence increased over time, from 21.4 (95% CI 17.68 to 25.67) per 100 000 in 1990 to 107.14 (95% CI 103.26 to 111.12) per 100 000 in 2020. CONCLUSIONS: The observed fivefold increase in prevalence of SLE over the last 30 years, in the context of a modest decline in incidence rate, may suggest improved outcomes in SLE and has important implications for healthcare service delivery and planning in the UK.

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