Lupus最新文献

ObjectivePatients with systemic lupus erythematosus (SLE) often have concomitant fibromyalgia (FM) or similar symptoms including chronic pain, fatigue, or depression. This study explored whether Patient-Reported Outcomes Measurement Information System (PROMIS) measures provide richer information than 2016 American College of Rheumatology (ACR) FM criteria survey.MethodsPatients with SLE in our convenience cohort were categorized into groups: (1) concurrent FM chronic pain, (2) concurrent non-FM chronic pain, and (3) no chronic pain using 2016 ACR FM Survey. Based on PROs in the FM Survey, we captured comparable PROMIS measures (e.g., depression, fatigue). Associations by pain group were tested using Kruskal-Wallis rank sum test, Shapiro-Wilk normality test, chi-squared test, or Fisher's exact test. Violin plots explored differences across groups.ResultsThe cohort (n = 181) included 31 patients with FM pain, 23 with non-FM chronic pain, and 127 with no chronic pain. Median PROMIS symptom scores (fatigue, sleep disturbance, pain intensity and interference, depression) were highest and cognitive function lowest in the FM group, despite 13% being in remission. There were significant differences on 4 PROMIS measures (cognitive function, fatigue, pain intensity, pain interference) between FM pain and non-FM pain groups (p < .02), the former being worse. There were no significant differences in SLE Disease Activity Index (SLEDAI) score.ConclusionSLE patients with non-FM chronic pain have similar symptoms to FM compared with SLE patients without chronic pain; however, symptoms are not as severe as those meeting FM criteria. PROMIS measures may be used to classify severity more precisely for disease categorization and management.

IntroductionWhile Systemic Lupus Erythematosus (SLE) typically presents with a multifactorial etiology, rare monogenic forms exist, usually diagnosed during childhood with a severe clinical course. This study aims to identify monogenic causes of SLE within the pediatric population of Northern Israel and to suggest criteria for genetic evaluation in patients with childhood-onset SLE.MethodsClinical and genetic data were collected from a single tertiary pediatric medical center in Israel, between 2010 and 2021. Patients diagnosed with SLE before the age of 18 years were enrolled in the study. Monogenic SLE was suspected in patients with any of the following criteria: (1) family history of SLE, (2) consanguinity, (3) early onset of symptoms (under 10 years), (4), atypical clinical course, (5) male gender, (6) syndromic features. Genetic evaluations were performed for these patients.ResultsSeventy-five patients were diagnosed with SLE, of whom 18 (24%) met the criteria for suspected monogenic SLE. Genetic evaluations were conducted for 13 out of the 18 patients (72%) leading to a diagnosis of a monogenic form of SLE in 6 of the 13 patients (46%), and total of 8% from the entire cohort. Four patients were diagnosed with prolidase deficiency, one patient with Aicardi-Goutières syndrome (AGS) and one patient with Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) syndrome. Additionally, candidate variants in C4B and ITPR3 genes were detected in an additional pedigree.ConclusionsMonogenic SLE was identified in 46% of the children within this selected cohort. A genetic diagnosis can yield direct clinical implications and enhance our understanding of the mechanisms involved in the more common sporadic forms of SLE.

IntroductionLupus podocytopathy (LP) is an under-recognized pathological manifestation in patients with systemic lupus erythematosus (SLE). Despite being a distinct entity, current American College of Rheumatology (ACR)/European Alliance of Associations for Rheumatology (EULAR) guidelines do not include specific recommendations about LP, contributing to uncertainty regarding its diagnosis and treatment. This systematic review aims to synthesize the available literature on LP from case reports, case series and retrospective cohort studies to better characterize its clinical course, thereby informing clinical decision-making.Material and methodsA systematic search of EMBASE and MEDLINE was conducted to identify relevant studies. Eligible studies included case reports, case series, and cohort studies reporting SLE patients who had biopsy-proven lupus podocytopathy without features of class III, IV, or V lupus nephritis. Demographic characteristics, clinical presentations, relevant laboratory and pathology results, treatment and outcomes were studied.ResultsThis systematic review included 26 studies (18 case reports/small series and 8 cohorts), analyzing 19 individual cases and 240 cohort patients with LP. Most patients were young females, and LP was often part of the initial lupus manifestation with nephrotic-range proteinuria. Minimal change disease (MCD) was the predominant pathology. Patients with LP had an overall favorable outcome with treatment employing systemic steroid and steroid-sparing agents.ConclusionsLP is an uncommon but distinct manifestation of SLE with overall favorable outcome with treatment using systemic steroid and steroid-sparing agents.

IntroductionCutaneous lupus can manifest with acute, subacute, and chronic eruptions triggered and exacerbated by ultraviolet exposure, making photoprotection an evidence-based aspect of disease management. This study aims to assess skincare and photoprotection knowledge and habits, medical information sources, and accessibility barriers among patients with lupus to identify knowledge gaps and inform educational initiatives.MethodsA cross-sectional 41-question survey was distributed via REDCap to adult participants with self-reported lupus identified through Research Match, the Northwestern Medicine Enterprise Data Warehouse, and lupus community organizations from August 2022 to March 2023. Data analysis was conducted in R version 4.3.1, and descriptive and linear regression model tests were performed.ResultsOf 129 initiated questionnaires, 115 were completed and met eligibility criteria. Only 43% correctly identified UVA protection on sunscreen labels, and 49% reported daily sunscreen use. Most participants reported receiving skincare information from dermatologists (49%) or rheumatologists (40%), with no statistically significant differences in knowledge level between groups (p = 0.38). Participants with Fitzpatrick skin tones III-IV and V-VI had significantly lower photoprotection knowledge scores compared to Fitzpatrick skin tones I-II (p = 0.002 and p = 0.0006, respectively). Participants with lower incomes (≤$75,000) scored lower than those with higher incomes (>$75,000; p = 0.003). One-third (33%) endorsed difficulty affording the management of their lupus and 15% reported that the cost of sunscreen influenced sunscreen use.ConclusionsThese exploratory findings highlight a need for targeted educational efforts to improve lupus management and outcomes, particularly in low-income groups and communities of color. Dermatologists and rheumatologists care for a substantial portion of patients with lupus and share a responsibility to educate and address these gaps.

ObjectiveThe purpose of this systematic review study was to showcase diagnostic challenges posed by lupus mastitis (LM).MethodsHere we report a case of a 47-year- old Caucasian female with LM heralding systemic lupus erythematosus (SLE) complicated by macrophage activation syndrome (MAS), in the light of a systematic review of the literature on LM.ResultsIncluding our patient, we identified 32 case reports of patients with LM in the course of SLE. Only in 6 cases, including ours, LM preceded SLE diagnosis. Ours is the first ever published case report of LM heralding MAS.ConclusionLM in the course of SLE is rare and published data is very limited. Diagnosis should be made combining physical exam, laboratory tests, imaging and histology results, and include differentiation from other autoimmune, malignant and infectious causes. Based on the reviewed literature, it is advised to consider minimally invasive core biopsies in lupus patients over open biopsies as the associated trauma may exacerbate local inflammation. Conservative treatment with immunosupressive and anti-inflammatory drugs allows for control of breast symptoms in most cases.

BackgroundSystemic lupus erythematosus (SLE), an autoimmune disease, predominantly affects women and is associated with an increased risk of spontaneous abortion (SA). However, traditional analytical methods found a modest relationship between some factors and SLE-SA and were limited to a small sample size, frequently associated with poor predictive performance.ObjectivesThis study aimed to apply and evaluate an Extreme Gradient Boosting (XGBoost) model using routinely collected clinical data to identify patterns associated with spontaneous abortion in women with SLE and to identify the key variables associated with this outcome.MethodsThe study included adult SLE women from the Egyptian College of Rheumatology (ECR)-SLE cohort, a national multicenter study, which had available SA data. SA was defined as unexplained pregnancy loss up to 20 weeks of gestation. Patients' demographics, clinical manifestations, SLE disease activity index (SLEDAI), therapeutic and laboratory data were used as input variables for the logistic regression (LR) and XGBoost models. We evaluated the performance of both the XGBoost and LR models by calculating the area under the receiver operating characteristic curve (AUC) for each model, and then compared these AUC values to assess which model better distinguished between patients with and without SA. The importance and direction of each variable contributing to the risk of SA were evaluated using SHapley Additive exPlanation (SHAP).ResultsA total of 3296 SLE women (mean ± SD age: 32.5 ± 10.1 years; median disease duration: 48 months) were included. The mean SLEDAI score was 11.3 ± 9.5. About 13.9% of the patients included had at least one abortion. Optimized XGBoost performed better (AUC 0.99) compared with LR (AUC 0.78). Positive antiphospholipid antibodies, low complement 3, longer disease duration, hypertension and the presence of mucocutaneous ulcers, as well as anticoagulants and steroid use, were among the important factors associated with SA in SLE patients.ConclusionUsing information obtained in the clinical settings, the XGBoost identified variables associated with SA in women with SLE, including positive antiphospholipid antibodies, low complement 3 levels and longer disease duration. Further, longitudinal studies are necessary to evaluate the clinical utility of the proposed classification model.

BackgroundLupus choroidopathy was reported to be a marker of severe systemic erythematosus (SLE) activity and is frequently associated with nephropathy. However, it remains controversial whether choroidal thickness (CT) reflects glomerular vascular involvement or provides reliable indirect evidence of lupus nephritis (LN) activity. Therefore, the purpose of the present study was to assess the choroidal thickness in patients with active LN prior to the induction treatment and compare it with a healthy control group.MethodsThis case-control cross-sectional study evaluated 28 consecutive active LN patients before treatment initiation. All patients fulfilled the 2019 ACR/EULAR classification criteria for SLE, and LN was defined according to the American College of Rheumatology. Kidney biopsy-confirmed LN was present in 20 patients, with classification based on Renal Pathology Society/International Society of Nephrology standards. Health control group balanced by sex and age were included. CT was measured using the enhanced depth imaging protocol on spectral-domain optical coherence tomography.ResultsLN patients and controls had comparable median age (p = 0.445) and female predominance (p = 0.295). Renal parameters were characterized by median creatinine (0.80 ± 0.26 mg/dL) and elevated median protein/creatinine ratio (1.84 ± 1.70 g/g). Histological classes were predominantly proliferative [14/20 (70%)]. The mean central subfoveal CT was significantly lower in LN patients compared to the health control (297 ± 41.7 μm vs 329 ± 69.9 μm, p = 0.004).ConclusionThe observed thinning of central subfoveal CT in patients with active LN prior to treatment suggests that the choroid may serve as a subclinical target organ affected by systemic inflammation. Given its non-invasive accessibility, CT measurements may represent a promising tool for monitoring LN activity. Future longitudinal studies are warranted to determine its utility as a biomarker in the clinical management and follow-up of LN patients.

BackgroundSystemic lupus erythematosus (SLE) is an autoimmune disease with frequent renal involvement. Although current remission induction therapies are effective, a high proportion of patients experience flares or are treatment-resistant. Combining immunosuppressants with Calcineurin Inhibitors (CNIs) may improve clinical response, but insufficient data exist for the Hispanic population.MethodsPatients with SLE and lupus nephritis (LN) with persistent proteinuria despite previous immunosuppression and who began a combined regimen, including CNIs, were included. 24-hour proteinuria and glomerular filtration rate (eGFR) as estimated by CKD-EPI were evaluated at 12 months and stratified by LN histological class.Results239 clinical records from patients with LN diagnosis were evaluated, and 42 met the inclusion criteria. At 12 months, complete and partial responses were reached by 26.2% and 35.7% of patients, respectively. Compared with baseline, a significant reduction in proteinuria was observed (2.89 vs 0.72 g/d, p < .001), and a transient decrease in eGFR was detected at 6 months (109 vs 104 mL/min/1.73 m², p = .001), which improved significantly at 12 months (109 vs 114 mL/min/1.73 m², p = .023).ConclusionFor a Mexican cohort of patients with treatment-resistant lupus nephritis, the addition of CNIs can be effective. It achieves excellent biochemical response rates despite a transient reduction in eGFR that improves without treatment withdrawal.

ObjectivesThe occurrence of a birth-cohort pattern underlying the time trends of any given disease is indicative of exposure to environmental risk factors during early life with long-lasting consequences that influence the disease occurrence during patients' subsequent lifetime. The present analysis serves to test whether the time trends of systemic lupus erythematous (SLE) in England & Wales and the United States are characterized by a similar birth-cohort patterns as other autoimmune diseases associated with Epstein-Barr virus (EBV).MethodsIn an observational study using the Vital Statistics of England & Wales and the United States from 1951 to 2022, the mortality trends of SLE were compared to those of Hodgkin lymphoma (HL), multiple sclerosis (MS), Crohn's disease (CD), and ulcerative colitis (UC).ResultsMortality from SLE rose among generations born during the 19^th century and decreased among generations born subsequently during the 20^th century. This birth-cohort pattern of SLE was matched by almost identical patterns underlying the occurrence of MS and CD, whereas mortality from HL and UC were similarly characterized by a birth-cohort patterns with a rise and fall in mortality that were shifted by 10-20 years towards earlier generations when compared to SLE, MS, and CD.ConclusionThe similarities in the birth-cohort patterns of SLE and other EBV-associated diagnoses suggest that they all share a common risk factor, such as EBV infection. The trends of SLE may have been shaped by underlying trends in the acquisition of EBV infection during adolescence or early adulthood.