Lupus最新文献

Background: Systemic lupus erythematosus is a clinically heterogeneous autoimmune disease that lacks reliable diagnostic biomarkers. In our study, we aimed to identify a novel biomarker for the diagnosis and disease activity monitoring of SLE.

Methods: Bulk RNA and scRNA-seq datasets were obtained from the Gene Expression Omnibus database. In this study, differential analysis, cell-cell communication algorithm, functional enrichment analysis, human protein map database analysis, protein-protein interaction analysis and immune cell infiltration analysis were utilized to identify the hub genes between SLE and healthy groups. Furthermore, clinical data from 68 SLE patients and 31 healthy controls were collected for verification. Changes in IFITM3 levels were confirmed through quantitative real-time polymerase chain reaction, western blotting, and flow cytometry analyses.

Result: Bioinformatic analyses showed that IFITM3 expression was significantly upregulated in peripheral monocytes from patients with SLE. IFITM3 mRNA levels showed a significant diagnostic value for SLE, with an AUC value of 87.14%. IFITM3 expression was associated with the systemic lupus erythematosus disease activity index, as well as C3, C4, and IgG levels. The results of Chi-square test showed that those in the IFITM3-positive group had a higher percentage of several clinical manifestations such as thrombocytopenia, leukopenia, low complement, and fever.

Conclusions: These findings indicated an obviously increased expression of IFITM3 in peripheral blood monocytes of patients with SLE and verified IFITM3 as a promising diagnostic marker for SLE and associated with disease activity.

Objective: To evaluate the possible reversibility of PAH to a normopressoric state in SLE after induction immunosuppressive (IS) and predictors of response.

Methods: We retrospectively evaluated all SLE-PAH patients who underwent IS therapy at our center. PAH reversion was defined as the normalization of pulmonary arterial pressure (PAP), either by the presence of systolic PAP <40 mmHg on echocardiogram or mean PAP <20 mmHg on right heart catheterization (RHC). SLE patients were divided in Reversion and No-Reversion of SLE-PAH groups for comparative analysis at baseline and after IS.

Results: Among 2,074 SLE patients, 28 SLE-PAH received IS therapy (1.3%). Ten patients (35.7%) achieved SLE-PAH reversion. Demographic data, disease duration, SLEDAI-2K, and SDI Damage scores were similar between Reversion and No-Reversion of SLE-PAH groups (p > 0.05). At baseline, Reversion of SLE-PAH had lower sPAP (p = 0.032), lower right ventricle dilatation (p = 0.003) and hypokinesia (p = 0.017) frequencies on echocardiogram, and also lower BNP levels (p = 0.041) and risk stratification score (p = 0.014). Hemodynamic parameters were similar among groups (p > 0.05). After IS, a significant decrease in CRP levels was identified only in Reversion of SLE-PAH (p = 0.013), although both groups had a significant reduction in SLEDAI-2K (p < 0.05). Both groups had significant improvement in risk stratification score (p = 0.009 and p < 0.001) with a better survival rate in Reversion of SLE-PAH (p = 0.047).

Conclusion: This is the first study that identified that more than one third of SLE-PAH had a complete reversion of PAH after IS therapy with a significant impact on their survival. These findings strongly support the notion of an underlying inflammatory etiology of this condition, which reinforces the use of immunosuppressive treatment for all SLE patients at PAH onset.

Objectives: Describe the history of the use of the term "lupus" as a disease and to point out the inaccuracies of previous lupus historical articles and correct the historical record.

Methods: An exhaustive review of Medieval and later texts regarding the use of the term "lupus" as it was used for the name of a disease as well as personal communications with Medieval experts who have studied this topic.

Results: There are three possible first uses of "lupus" as a disease: an affidavit written in 963 AD by Eraclius (Bishop of Liège, Belgium), in a 12th century historical account of the Bishop of Liège, falsely ascribed to the 9th century Bishop Herbernus, or in an 1170 AD letter written by Pierre de Blois about the death of archbishop Stephan du Perche. The first use of "lupus" in a medical text was by Rolando da Parma in a 1230 AD surgical treatise. Lupus, Latin for wolf, was not used to describe lesions that looked like wolf bites. Instead, it was first used to describe potentially deadly skin lesions that devoured the affected person's skin and "internal matter." The first described lupus treatment was freshly killed chicken flesh applied to the lesions so they would "wolfishly" eat the chicken rather than the person's flesh. At least 25 modern historical articles, book chapters, and academic theses on the topic contain incorrect dates, story authorship ascriptions, reason for the use of "lupus" and other facts. There is no proof that Hippocrates described lupus. The Basilica of St Martin (Liege, Belgium), was originally built in the 10th century by Eraclius, Bishop of Liege, out of gratitude to St Martin for curing him of "lupus."

Conclusions: The first use of the word "lupus" as a disease originated in either the 10th or 12th centuries. It described a deadly disease affecting the buttocks and legs that "wolfishly" devoured the person's flesh and "internal matter" as well as doctor-prescribed fresh chicken flesh placed on the lesions. Authors of medical history articles should evaluate original historical texts and not simply repeat what other modern articles have written.

Objectives: To determine the number of patients that met classification for antiphospholipid antibody syndrome (APS) after applying the 2023 American College of Rheumatology and the European Alliance for Associations of Rheumatology (ACR/EULAR) classification criteria, to identify reasons patients did not meet the new criteria, and determine the number of patients who were single, double, or triple positive based on laboratory criteria.

Methods: A single center, retrospective chart review of patients with APS on anticoagulation managed by ambulatory care clinical pharmacists. Data collected included patient demographics, type of anticoagulation, and clinical and laboratory criteria for APS as defined by the 2023 ACR/EULAR criteria. Data is presented using descriptive statistics.

Results: A total of 51 patients previously diagnosed with APS were included. There were 42 patients on warfarin (82.3%), 4 patients on direct oral anticoagulants (19%), 3 patients on low molecular weight heparin (5.8%), and 2 patients on fondaparinux (3.9%). Of the 51 patients, 12 (23.5%) met classification criteria, 33 (64.7%) did not meet classification criteria and 6 (11.7%) had insufficient data. Of the 27 patients that did not meet criteria, 13 patients did not meet the laboratory criteria (39.4%), 6 patients did not meet the clinical criteria (18.2%) and 14 patients did not meet both laboratory and clinical criteria (42.4%). Of the 12 patients that met classification criteria, 2 patients were triple positive (16.7%), 3 were double positive (25%), and 7 were single positive (58.3%).

Conclusions: Results from this study indicate that APS continues to be a complex disease state with challenges in diagnosis and classification. Since only a small number of patients in our clinic continued to meet the classification criteria, opportunities for patient re-evaluation of management strategies at our institution could be considered.

Objective: Antinuclear antibodies (ANA) staining patterns can provide useful information in systemic lupus erythematosus (SLE). In our study, we examined the frequency of ANA staining patterns in disease-related features in childhood-onset SLE patients.

Methods: ANA and its staining patterns were assessed in childhood-onset SLE patients.

Results: Two hundred twenty-three patients were included (F/M = 3/1). Their median age at diagnosis was 14.3 (11.9-16.1) years. The anti-cell (AC)-4/5 (fine or large speckled) pattern was the most common nuclear ANA pattern (75.8%), while the AC-19 (dense fine speckled) pattern was the most frequently detected cytoplasmic ANA pattern (13.1%). The AC-4/5 (fine or large speckled) patterns were notably seen in fever, acute and chronic cutaneous lupus, arthritis, serositis, hematologic involvement, renal involvement, neuropsychiatric involvement, gastrointestinal involvement, and cardiopulmonary involvement (all p < .001). Conversely, the AC-1 (homogeneous) pattern was significantly detected in oral/nasal ulcers and non-scarring alopecia (both p < .001). Regarding the laboratory features, the AC-4/5 (fine or large speckled) patterns exhibited a predominant seen in autoimmune hemolytic anemia, leukopenia, thrombocytopenia, elevated ESR and CRP, hypocomplementemia, direct Coombs, anti-Smith (Sm), anti-SSA and SS-B, anti-ribonucleoprotein (RNP), anti-histone, anti-ribosomal P, lupus anticoagulant, anti-cardiolipin immunoglobulin (Ig)M/IgG, and anti-β2-glycoprotein IgM/IgG positivities (all p < .001). In contrast, the AC-1 (homogeneous) pattern was detected in anti-double-stranded (ds) DNA and anti-histone positivity (both p < .001).

Conclusion: Our study showed that AC-4/5 and AC-1 patterns of ANA are frequently detected in many clinical and serological features of childhood-onset SLE patients. However, further studies are needed in larger populations to verify these results.

Objective: To study the clinical features and laboratory parameters of neonatal lupus erythematosus (NLE) from India.

Patients and methods: We analyzed case records of children diagnosed with NLE in the Pediatric Rheumatology Clinic at tertiary care centre from North India during the period January 1999 - December 2023.

Results: Twenty-four babies are diagnosed with NLE during the study period. Median age at diagnosis was 60 days with a female predisposition (Male to female- 1:2). Cutaneous manifestations were reported in 14 (58%) patients. Hepatomegaly was noted in 15 (62.5%), and splenomegaly in 2 (8%). Elevated transaminases were noted in 14 (58%) patients, and cholestatic jaundice in one. Hematological manifestations were noticed in 20 (83.3%), and neurological manifestations were noticed in 8 patients. Most non-cardiac manifestations were self-limiting. Intravenous immunoglobulin was used for phrenic nerve palsy and autoimmune hemolytic anemia. Oral corticosteroid was used in a patient with refractory cytopenia, and four patients required transfusions. Cardiac involvement was reported in 13 (54%) patients - 3rd-degree heart block in 9 patients, and 6 were managed with epicardial pacemaker insertion. One patient required pacemaker reimplantation due to infective endocarditis. Congenital hydrops was seen in 3 patients, and required respiratory support and recovery was uneventful.

Conclusion: NLE is associated with significant morbidity. More than half had cardiac manifestation, of which 70% had 3rd-degree heart block requiring pacemaker insertion. Other rare clinical manifestations like phrenic nerve palsy and seizures are noticed in our cohort.

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.