Lupus最新文献

Background: Spondyloenchondrodysplasia is classified as an interferonopathy resulting from recessive mutations in the ACP5 gene and manifests with various clinical features, including distinctive skeletal dysplasia, neurological abnormalities, immune dysfunction resembling systemic lupus erythematosus (SLE) and Sjogren's syndrome. While SLE is typically considered multifactorial and more prevalent in adulthood, a subset of approximately 10%-25% of childhood cases arise from monogenic form. Among these, spondyloenchondrodysplasia accounts for only a rare fraction of monogenic lupus cases, with only 22 reported instances in the literature.

Case report: This paper presents a new case of spondyloenchondrodysplasia-immune dysregulation (SPENCDI) in an adult patient born to nonconsanguineous parents. The patient was diagnosed with SPENCDI and exhibited immune neutropenia, anti-dsDNA positivity, platyspondyly, immune deficiency, and a homozygous variant (c.155 A > C, p. Lys52Thr) in the ACP5 gene, previously classified as pathogenic. Notably, the patient achieved successful clinical management through the initiation of baricitinib treatment, a Janus kinase inhibitor.

Conclusion: SPENCDI represents an uncommon cause of SLE in adulthood. Clinicians should be vigilant of underlying Mendelian inheritance when encountering patients with associated features. While treatments for both Mendelian and non-Mendelian SLE are similar, Janus kinase inhibitors like baricitinib show potential for managing interferon-signature monogenic SLE cases.

Objective: We retrospectively analyzed the clinical features and prognosis of SLE patients with HF.

Methods: Patients with SLE and HF who were hospitalized in Jinling Hospital from January 2013 to May 2021 and followed up for 2 years after discharge were included. Risk factors for death and ESKD were analyzed. According to cardiac ultrasound, patients were subdivided into the HFrEF, HFmrEF and HFpEF groups, and differences in clinical features and prognosis among the three groups were analyzed.

Results: Among 376 SLE patients with HF, the distribution was 13.30% HFrEF, 14.89% HFmrEF, and 71.81% HFpEF. Median ages at SLE and HF diagnosis were 29.00 (21.25, 42.00) and 35.25 (27.29, 49.31) years, with a median SLE duration of 49 (7, 120) months. The 2-year overall and renal survival rates were 86.97% and 63.56%, respectively. Multivariate COX analysis identified age, NPSLE, blood NT-proBNP, CD20+ B cells, Alb, and UA as death risk factors, and Scr, PCT, CD20+ B cells, urine RBP, and right kidney size as ESKD risk factors. The 2-year survival rates were 70% for HFrEF, 82.14% for HFmrEF, and 91.11% for HFpEF; renal survival rates were 46%, 58.93%, and 67.78%, respectively. HFrEF had lower survival rates than HFpEF, while HFmrEF showed intermediate rates and clinical features, with some significantly different from HFpEF but not HFrEF. No significant differences in SLE remission or relapse rates were found among non-ESKD survivors.

Conclusions: SLE patients with HF tend to have an early disease onset, high SLE activity and long course, with HFpEF being the predominant phenotype. HFrEF has a poorer prognosis compared to HFpEF, while HFmrEF has an intermediate prognosis and shares more clinical similarities with HFrEF.

Background: With the increasing prevalence of digital devices and internet access, digital resources have become essential for educating patients with chronic diseases. We explored the patient perspective on health-related internet searches among Korean patients with systemic lupus erythematosus (SLE).

Methods: We collected data through a Google Survey from 344 SLE patients. The survey covered demographics, preferred digital devices and sources, and digital information content, and participants' views on digital resources. We analyzed patient characteristics associated with digital resource usage.

Results: Of the 344 patients, 270 reported using the internet to acquire disease-related information, including the association between nutrition and SLE, general information on SLE, and coping strategies for SLE management. SLE-related searches on the internet were more common in patients younger than 40 years (p = 0.002), those with fewer than 15 years of disease duration (p < 0.001), and those with higher education levels (p = 0.022). Disease duration was independently associated with internet use. Patients reported that internet searches for information on SLE improved their understanding of the disease in 181 cases and motivated self-management in 166 cases. In addition, 98 patients found it helpful to make a shared decision with physicians.

Conclusion: Health-related searches on the internet are widely used by SLE patients to gather comprehensive information on the disease and to address unmet needs. The positive impact of SLE-related internet searches on disease understanding and self-management emphasizes the importance of developing high-quality digital resources to improve patient education and self-care for the disease.

Objectives: To determine if there is a clinicodemographic or serological profile associated with MRI-confirmed inflammatory musculoskeletal abnormalities in SLE patients. To investigate the relationship between these alterations and HRQoL.

Methods: patients with SLE from our previous study in whom a wrist and hand MRI with contrast was performed were included. Sociodemographic, clinical, therapeutic, serological data and PROs were collected and correlated with MRI findings.

Results: 83 patients were analysed. Erosions and synovitis were more common in older patients (55 ± 12.61 vs 45.06 ± 12.18 years, p .001, 52.78 ± 12.99 vs 44.95 ± 12.49 years, p .011). Synovitis was less frequent in patients with nephritis (6.7% vs 24.3%, p .031). Treatment received showed some associations: patients with bone edema received more methotrexate (25% vs 6.3%, p .033), those with erosions and peritendonitis received less mycophenolic acid (5.6% vs 22.9%, p .034; 0% vs 12.8%, p .026). Peritendonitis correlated with higher SLEDAI-2K (7 ± 2.45 vs 3.64 ± 3.34, p .018).

Worse haq: Patients with synovitis, tenosynovitis, peritendonitis and bone edema reported higher pain (6.03 ± 2.57 vs 4.26 ± 2.49, p .005; 6.56 ± 1.95 vs 4.76 ± 2.75, p .017; 8.80 ± 1.30 vs 4.95 ± 2.55, p .001; 6.47 ± 2.62 vs 4.83 ± 2.58, p .026, respectively). Patients with synovitis reported higher fatigue numerical values (2.32 ± 0.82 vs 1.91 ± 0.84, p .035), with tenosynovitis worse FSS-9 (61.50 ± 1.73 vs 45.70 ± 16.80, p .015), and with both synovitis and peritendonitis worse HAQ (1.14 ± 0.69 vs 0.75 ± 0.65, p .031; 1.69 ± 0.07 vs 0.90 ± 0.69, p .018).

Conclusion: SLE patients with confirmed musculoskeletal alterations on MRI were generally older, less likely to have lupus nephritis, and received different treatments. They reported a worse HRQoL in terms of pain, fatigue and functional disability.

Background: Our study investigates the associations between pain distribution, biopsychosocial factors, and Patient-Reported Outcomes Measurement Information System (PROMIS) measures in patients with systemic lupus erythematosus (SLE). Employing self-reported pain body maps, we aim to characterize the distribution of pain and its impact on biopsychosocial measures.

Methods: We retrospectively analyzed the electronic health records (EHR) of 332 adult patients with SLE attending pain clinics at an academic medical center. The study included demographics, pain distribution assessed via self-reported body maps, and PROMIS assessments of biopsychosocial experiences. We used linear regression models adjusted for age and sex to investigate associations between pain distribution and PROMIS outcomes.

Results: Men, on average, indicated pain in 3.2 regions, whereas women reported pain in 5.6 regions. Women predominantly highlighted the hip, buttock, and leg region, whereas men primarily emphasized the shoulder and arm region. We found a positive correlation between pain widespreadness and worse PROMIS measures, including pain interference, behavior, fatigue, depression, anxiety, sleep disturbance, and social isolation. Additionally, widespread pain was associated with lower physical function, emotional support, and satisfaction in roles and activities. Female patients reported higher levels of pain and PROMIS measures compared to males.

Conclusion: Our findings highlight the multidimensional impact of pain on SLE patients' lives underscoring the need for holistic pain management approaches. The intricate associations between pain distribution and biopsychosocial factors emphasize the importance of considering spatial dimensions of pain in clinical interventions. Further research is warranted to explore effective interventions addressing psychosocial aspects of pain in SLE, aiming to enhance patient symptom management and quality of life.

Objective: To assess the relationship between smoking exposure and organ damage accrual measured by Systemic Lupus International Collaborating Clinics/American College of Rheumatology Damage Index for Systemic Lupus Erythematosus score (SLICC-SDI) in consecutive patients with systemic lupus erythematosus (SLE) from Argentina.

Methods: 623 consecutive SLE patients (fulfilling ≥4, 1997 ACR criteria) were included in this cross-sectional study. Sociodemographic and disease related variables including SLICC-SDI score and smoking status were collected. Patients currently smoking were considered "smokers", and "non-smokers" those who never smoked and former smokers. SLICC-SDI was divided into two categories: <3 and ≥3 was defined as severe damage.

Results: Six hundred and 23 patients were included in the analysis, 89% women. Eighty-four per cent were non-smokers and 16 % were current smokers 83 percent of patients had SLICC-SDI <3 and 17 % had SLICC-SDI ≥3. Twenty one percent of patients with SLICC-SDI ≥3 and 15% with <3 SLICC-SDI were current smokers (p 0.081). In the multiple regression analysis, current smoking (OR 1.82, CI 95% 1.01-3.31, p 0.046), older age (OR 1.04, CI 95% 1.00-1.05, p 0.034), disease duration (OR 1.03, CI 95% 1.00-1.07, p 0.021) and cyclophosphamide exposure (OR 2.97, CI 95% 1.49-5.88, p 0.002) were related to SLICC-SDI ≥3.

Conclusion: In our sample of patients, current smoking, older age, disease duration and cyclophosphamide were related to severe damage (SLICC-SDI ≥3).

Purpose: To perform a quantitative multimodal evaluation in 25 patients with primary antiphospholipid syndrome (PAPS) without ocular complaints and to compare them with 25 healthy individuals.

Methods: A structural and functional ophthalmological evaluation using optical coherence tomography angiography (OCTA) and microperimetry (MP) exam in 25 patients with PAPS, followed at a tertiary rheumatology outpatient clinic, was performed. All ophthalmologic manifestations were documented and subsequent statistical analysis was performed for comparative purposes, with significance set at p < 0.05.

Results: We included 100 eyes of 50 subjects (25 patients with PAPS without ocular complaints and 25 healthy individuals). Quantitative OCTA assessment revealed significant differences between PAPS patients and controls in both the superficial vascular complex (SVC) and deep vascular complex (DVC) using high-speed protocol, as well as in the SVC in the high-resolution protocol. Analysis of the foveal avascular zone (FAZ) parameters showed a larger area of FAZ in the DVC in PAPS patients using the high-speed method compared to the control group (p = 0.047). In MP quantitative analysis, the PAPS group exhibited lower central (p = 0.041) and global (p < 0.001) retinal sensitivity compared to the control group, along with sectoral differences, except in the inferior sector.

Conclusions: PAPS patients present lower vascular density and retinal sensitivity compared to the control group, even in patients without paracentral acute middle maculopathy (PAMM). Our findings underscore the significance of ocular evaluation beyond symptomatic assessment in these patients.

Objectives: This multicenter longitudinal study investigated the prevalence of gastrointestinal (GI) manifestations in lupus patients and determined the risk factors associated with mortality.

Methods: This study is part of the Oman Lupus Study, which included 1160 patients who met the classification criteria for systemic lupus erythematosus (SLE) from January 2006 to February 2020. All patients were screened for GI symptoms and involvement.

Results: We identified 91 patients with GI manifestations, with a prevalence rate of 8.53% in the pediatric group and 7.75% in the adult group, and this difference was not statistically significant (p = .755). Ischemic colitis was significantly associated with longer disease duration (p < .001) and positivity for B2-glycoprotein I (B2GPI) autoantibodies (p < .0001). Moreover, a significant correlation was found between ischemic colitis and hematologic manifestations (p = .001), lupus nephritis (p = .007), pulmonary complications (p = .000-.039), and some cardiac complications (p = .012-.269). Mortality rates were greater in patients with GI involvement (24.37%), including those with ischemic colitis (p = .005), chronic peritonitis (p < .001), and spleen/liver infarction (p = .001). Sepsis, thrombocytopenia, and different internal organ involvement rates were significantly associated with increased mortality.

Conclusion: This research provides significant insights into GI manifestations in lupus patients. A higher mortality rate was found to be associated with organ involvement, disease duration, autoantibody profile, and specific complications. Considering this fact, it is vital to prioritize management strategies to improve clinical outcomes in this group of patients.

Objective: Systemic Lupus Erythematosus (SLE) is a complex autoimmune disease predominantly affecting women. Despite advances in treatment, recent developments in single-cell RNA sequencing (scRNA-seq) and Mendelian randomization (MR) continue to facilitate the need for precision medicine.

Methods: Data obtained from the GSE135779 dataset underwent quality control, normalization, and dimensionality reduction using Seurat and MonacoImmuneData. Marker genes identified subgroups for analysis with CellChat and ClusterProfilerR. MR analysis of these genes' eQTLs was performed to establish causal relationships with SLE using IEU Open GWAS project data.

Results: Single-cell analysis revealed distinct cellular subtypes and highlighted increased monocyte levels in patients with SLE. MR analysis revealed 12 genes, particularly interferon induced protein with tetratricopeptide repeats 3 (IFIT3), causally related to SLE. Gene ontology and the Kyoto encyclopedia of genes and genomes analyses identified pathways significant to SLE pathogenesis. Visualization of these genes at the single-cell level revealed their role in disease progression. Cell communication differences between IFIT3-positive and -negative groups were also observed.

Conclusion: This study demonstrates the potential of scRNA-seq and MR in identifying critical factors in SLE pathogenesis, thereby supporting the need for targeted therapies. Identifying IFIT3, among other genes, as central to SLE progression opens new avenues for precision medicine approaches in SLE management.