Overlap syndrome is a rare condition involving the coexistence of at least two distinct autoimmune diseases, such as systemic lupus erythematosus and systemic sclerosis. This condition has limited studies on epidemiology probably because it is often under-recognized. We present a 22-year-old Filipino female with a 10-month history of hyperpigmented patches on the malar surface and extremities, with associated photosensitivity, fatigue, pallor, arthralgia, and oral ulcers, and positive antinuclear antibody titer. She was treated with oral Prednisone in tapering doses, leading to clinical improvement. Eight months later, there was a recurrence of hyperpigmented patches on the face and extremities with skin tightening and diffuse hair loss, development of shiny skin with facial fold loss, a beak-like nasal appearance, and episodes of dyspnea and malaise. Consistent with scleroderma, the patient was started on mycophenolate mofetil (MMF) 500 mg daily, with close monitoring for disease progression and systemic involvement. Overlap syndrome remains under-recognized due to its variable presentation and rarity. Treatment is individualized based on the specific connective tissue diseases involved and the patient’s symptoms. Multidisciplinary care is crucial for timely management and to adjust treatment as needed, given the potential for life-threatening complications involving cutaneous and internal organs.

Human ; Female ; Young Adult: 19-24 Yrs Old ; Histopathology ; Pathology ; Lupus Erythematosus, Systemic ; Scleroderma, Systemic

Humans ; Lupus Vasculitis, Central Nervous System/pathology* ; Magnetic Resonance Imaging/methods* ; Diffusion Tensor Imaging/methods* ; Patients ; Lupus Erythematosus, Systemic/pathology* ; Brain/pathology*

OBJECTIVES: To investigate the clinical characteristics, pathological features, treatment regimen, and prognosis of children with lupus nephritis (LN) and thrombotic microangiopathy (TMA), as well as the treatment outcome of these children and the clinical and pathological differences between LN children with TMA and those without TMA. METHODS: A retrospective analysis was conducted on 12 children with LN and TMA (TMA group) who were admitted to the Department of Nephrology, Children's Hospital of Nanjing Medical University, from December 2010 to December 2021. Twenty-four LN children without TMA who underwent renal biopsy during the same period were included as the non-TMA group. The two groups were compared in terms of clinical manifestations, laboratory examination results, and pathological results. RESULTS: Among the 12 children with TMA, 8 (67%) had hypertension and 3 (25%) progressed to stage 5 chronic kidney disease. Compared with the non-TMA group, the TMA group had more severe tubulointerstitial damage, a higher Systemic Lupus Erythematosus Disease Activity Index (SLEDAI) score at onset, and higher cholesterol levels (P<0.05). There were no significant differences between the two groups in the percentage of crescent bodies and the levels of hemoglobin and platelets (P>0.05). CONCLUSIONS There is a higher proportion of individuals with hypertension among the children with LN and TMA, as well as more severe tubulointerstitial damage. These children have a higher SLEDAI score and a higher cholesterol level.
Child ; Humans ; Lupus Nephritis/complications* ; Kidney/pathology* ; Retrospective Studies ; Thrombotic Microangiopathies/therapy* ; Prognosis ; Hypertension/complications* ; Cholesterol ; Lupus Erythematosus, Systemic

Immunoglobulin (IgG) glycosylation affects the effector functions of IgG in a myriad of biological processes and has been closely associated with numerous autoimmune diseases, including systemic lupus erythematosus (SLE), thus underlining the pathogenic role of glycosylation aberration in autoimmunity. This study aims to explore the relationship between IgG sialylation patterns and lupus pregnancy. Relative to that in serum samples from the control cohort, IgG sialylation level was aberrantly downregulated in serum samples from the SLE cohort at four stages (from preconception to the third trimester of pregnancy) and was significantly associated with lupus activity and fetal loss during lupus pregnancy. The type I interferon signature of pregnant patients with SLE was negatively correlated with the level of IgG sialylation. The lack of sialylation dampened the ability of IgG to suppress the functions of plasmacytoid dendritic cells (pDCs). RNA-seq analysis further revealed that the expression of genes associated with the spleen tyrosine kinase (SYK) signaling pathway significantly differed between IgG- and deSia-IgG-treated pDCs. This finding was confirmed by the attenuation of the ability to phosphorylate SYK and BLNK in deSia-IgG. Finally, the coculture of pDCs isolated from pregnant patients with SLE with IgG/deSia-IgG demonstrated the sialylation-dependent anti-inflammatory function of IgG. Our findings suggested that IgG influences lupus activity through regulating pDCs function via the modulation of the SYK pathway in a sialic acid-dependent manner.
Humans ; Pregnancy ; Female ; Lupus Erythematosus, Systemic/pathology* ; Signal Transduction ; N-Acetylneuraminic Acid/metabolism* ; Immunoglobulin G ; Dendritic Cells/pathology*

BACKGROUND: The onset and clinical presentation of systemic lupus erythematosus (SLE) are sex-related. Few studies have investigated the distinctions in clinical characteristics and treatment preferences in male and female SLE patients in the initial cohort. This study aimed to improve the understanding of Chinese SLE patients by characterizing the different sexes of SLE patients in the inception cohort. METHODS: Based on the initial patient cohort established by the Chinese SLE Treatment and Research Group, a total of 8713 patients (795 men and 7918 women) with newly diagnosed SLE were enrolled between April 2009 and March 2021. Of these, 2900 patients (347 men and 2553 women) were eligible for lupus nephritis (LN). A cross-sectional analysis of the baseline demographic characteristics, clinical manifestations, laboratory parameters, organ damage, initial treatment regimens, and renal pathology classification was performed according to sex. RESULTS: In the SLE group, as compared to female patients, male patients had a later age of onset (male vs. female: 37.0 ± 15.8 years vs. 35.1 ± 13.7 years, P  = 0.006) and a higher SLE International Collaborative Clinic/American College of Rheumatology damage index score (male vs. female: 0.47 ± 1.13 vs. 0.34 ± 0.81, P  = 0.015), LN (male vs. female: 43.6% vs. 32.2%, P < 0.001), fever (male vs. female: 18.0% vs. 14.6%, P  = 0.010), thrombocytopenia (male vs. female: 21.4% vs. 18.5%, P  = 0.050), serositis (male vs. female: 14.7% vs. 11.7%, P  = 0.013), renal damage (male vs. female: 11.1% vs. 7.4%, P < 0.001), and treatment with cyclophosphamide (CYC) (P < 0.001). The frequency of leukopenia (male vs. female: 20.5% vs. 25.4%, P  = 0.002) and arthritis (male vs. female: 22.0% vs. 29.9%, P < 0.001) was less in male patients with SLE. In LN, no differences were observed in disease duration, SLE Disease Activity Index score, renal biopsy pathological typing, or 24-h urine protein quantification among the sexes. In comparisons with female patients with LN, male patients had later onset ages (P  = 0.026), high serum creatinine (P < 0.001), higher end-stage renal failure rates (P  = 0.002), musculoskeletal damage (P  = 0.023), cardiovascular impairment (P  = 0.009), and CYC use (P  = 0.001); while leukopenia (P  = 0.017), arthritis (P  = 0.014), and mycophenolate usage (P  = 0.013) rates were lower. CONCLUSIONS Male SLE patients had more severe organ damage and a higher LN incidence compared with female SLE patients; therefore, they may require more aggressive initial treatment compared to female patients.
Humans ; Female ; Male ; Cross-Sectional Studies ; Sex Characteristics ; East Asian People ; Severity of Illness Index ; Lupus Erythematosus, Systemic/diagnosis* ; Lupus Nephritis/pathology* ; Registries ; Cyclophosphamide/therapeutic use* ; Thrombocytopenia ; Leukopenia/drug therapy* ; Arthritis

OBJECTIVETo investigate diagnostic value of MRI, X ray and CT for bone infarction in children with systemic lupus erythematosus.

METHODSEleven systemic lupus erythematosus children with bone infarction were retrospectively analyzed from January 2015 to January 2017 , and tested by MRI, X-ray and CT. Among them, including 1 male and 10 females aged from 6 to 16 years old with an average of 13 years old. All patients were detected by MRI, 9 patients were detected by X-ray and 3 patients were detected by CT, imaging findings were analyzed.

RESULTSThe location of bone infarction involved 60 sits, 30 sites located on metaphyseal-diaphyseal region, 8 located on patella, 21 located on epiphysis, and 1 located on talus. Focus of 11 patients were detected by MRI, the main manifestation showed geographic change, long T1 and T2 signal could seen around focus, and showed double ring sign and three ring sign; 5 of 9 patients by X-ray examination detected focus;2 of 3 patients by CT examination detected focus. No abnormity seen at early stage by X-ray and CT examination, and low density focus around harden edge at chronic stage.

CONCLUSIONSMRI could display bone fracture at early stage, X-ray and CT could only display lesion at chronic stage, MRI is the most effective method in diagnosing bone infarction.

Adolescent ; Bone and Bones ; diagnostic imaging ; pathology ; Child ; Female ; Humans ; Infarction ; diagnostic imaging ; Lupus Erythematosus, Systemic ; complications ; Magnetic Resonance Imaging ; Male ; Radiography ; Tomography, X-Ray Computed

OBJECTIVE: To describe the clinical, immunological characteristics and organ involvement of patients with systemic lupus erythematosus (SLE) in Tibet plateau, China. METHODS: We retrospectively investigated 70 patients admitted in the Tibet Autonomous Region People's Hospital between May 2014 and April 2016. In the study, 120 hospitalized patients with SLE from the Department of Rheumatology and Immunology of the Peking University People's Hospital were randomly selected as the control (plain) group. The major organ involvement, clinical and immunological characteristics were compared between the two groups. RESULTS: The female to male ratio of Tibet plateau group was 10.7, while the corresponding ratio of plain group was 11.0. The mean age at disease diagnosis was (32.21±11.40) and (35.38±13.25) years, respectively. the most common initial manifestations of SLE were arthritis (78.6%), alopecia (55.7%) and malar rash (48.6%) in Tibet plateau group, the prevalence of arthritis and alopecia was significantly higher than in plain group (P<0.05). The incidence of neuropsychiatric and kidney involvement was significantly lower in Tibet plateau group compared with plain group (P<0.05). As for the serological manifestations, the positivity of anti-double-stranded DNA (dsDNA) (57.1%), anti-Smith (Sm) antibody (55.7%), anti-Sjögren syndrome A (SSA) antibody (72.3%), anti-Sjögren syndrome B (SSB) antibody (41.4%) and anti-u1-ribosenuclear protein (u1RNP) antibody (45.7%) was significantly higher in Tibet plateau group (P<0.05). While the incidence of low serum complement C3 (61.4%), C4 (38.6%) less frequent in Tibet plateau group. Mean SLE disease activity index (SLEDAI) score was similar in the Tibet plateau group (12.18±5.58) and plain group (12.69±7.28). Moreover, there were 13 (18.6%) SLE patients suffering from tuberculosis and 7 (10%) SLE patients infected with hepatitis B virus in Tibet plateau group. The number of recent-onset SLE patients with lower 25-dihydroxy-vitamin D3 (25-OH-VD3) in Tibet plateau group was fewer than that in the plain group (76.7% vs. 90.0%, P=0.046). Serum 25-OH-VD3 levels in Tibet plateau plateau group were (31.14±18.74) nmol/L, those in plain group were (26.91±14.27) nmol/L, and the difference was not significant. CONCLUSION The age, gender and SLEDAI scores in Tibet plateau group was similar to those in plain group. But there are significant differences in clinical manifestations, distributions of antibodies and immunological changes between Tibet plateau group and plain group. The patients with lower serum 25-OH-VD3 levels were more in plain group than in Tibet plateau group, while there was no significant difference in the 25-OH-VD3 level between the two groups.
Adult ; Antibodies/analysis* ; Arthritis/etiology* ; China ; Female ; Humans ; Lupus Erythematosus, Systemic/pathology* ; Male ; Middle Aged ; Retrospective Studies ; Tibet ; Young Adult

BACKGROUNDApproximately 15-20% cases of systemic lupus erythematosus (SLE) are diagnosed in children. There have been a few studies reporting the epidemiological data of pediatric-onset SLE (cSLE) in China, neither comparing the differences between cSLE and adult-onset SLE (aSLE). The aim of this study was to describe the impact of age of onset on clinical features and survival in cSLE patients in China based on the Chinese SLE Treatment and Research group (CSTAR) database.

METHODSWe made a prospective study of 225 cSLE patients (aged Results: The mean age of cSLE patients was 12.16 ± 2.92 years, with 187 (83.1%) females. Fever (P < 0.001) as well as mucocutaneous (P < 0.001) and renal (P = 0.006) disorders were found to be significantly more frequent in cSLE patients as initial symptoms, while muscle and joint lesions were significantly less common compared to aSLE subjects (P < 0.001). The cSLE patients were found to present more frequently with malar rash (P = 0.001; odds ratio [OR], 0.624; 95% confidence interval [CI], 0.470-0.829) but less frequently with arthritis (P < 0.001; OR, 2.013; 95% CI, 1.512-2.679) and serositis (P = 0.030; OR, 1.629; 95% CI, 1.053-2.520). There was no significant difference in SLE disease activity index scores between cSLE and aSLE groups (P = 0.478). Cox regression indicated that childhood onset was the risk factor for organ damage in lupus patients (hazard ratio 0.335 [0.170-0.658], P = 0.001). The survival curves between the cSLE and aSLE groups had no significant difference as determined by the log-rank test (0.557, P = 0.455).

CONCLUSIONScSLE in China has different clinical features and more inflammation than aSLE patients. Damage may be less in children and there is no difference in 5- year survival between cSLE and aSLE groups.

Adolescent ; Adult ; Age Factors ; Age of Onset ; Child ; China ; epidemiology ; Female ; Humans ; Lupus Erythematosus, Systemic ; epidemiology ; mortality ; pathology ; Male ; Middle Aged ; Odds Ratio ; Proportional Hazards Models ; Prospective Studies ; Registries ; Severity of Illness Index ; Young Adult

Systemic lupus erythematosus (SLE) predominantly affects women in their reproductive years and has a significant impact on childbearing. We investigated the influence of personal decision on family size among Korean women with SLE and factors that affect the decisions. A case-control study comparing childbearing history and decisions of 112 SLE patients and 135 controls was performed. Women with SLE participating in the Network for Lupus Clinical Research in South Korea and matching controls between ages of 18-45, who are/were married or living with a partner were included. Data regarding socio-demographics, reproductive history, and childbearing decisions were collected through a survey using a standardized questionnaire and medical record review. More women with SLE reported at least one pregnancy (85.7% vs. 71.9%, P = 0.009) or at least one live birth (85.7% vs. 71.9%, P = 0.003) compared with controls. Mean number of pregnancies was significantly higher (2.4 ± 1.6 vs. 1.4 ± 1.3, P < 0.001), and mean number of live births was significantly lower in women with SLE (1.2 ± 0.8 vs. 1.6 ± 0.8, P < 0.001). Significantly more women with SLE made the decision not to have children compared with controls (54.5% vs. 40.7%, P = 0.031), and health-related concerns were the major cause of the decision. Other socio-demographic factors did not influence the decision to limit childbearing in SLE women. The disease-related concerns had significant impact on family size and childbearing decisions among Korean women with SLE.
Adolescent ; Adult ; Asian Continental Ancestry Group ; Case-Control Studies ; Demography ; Family Characteristics ; Female ; Humans ; Live Birth ; Lupus Erythematosus, Systemic/*pathology/psychology ; Odds Ratio ; Pregnancy ; Pregnancy Complications ; Reproductive Behavior/*psychology ; Republic of Korea ; Surveys and Questionnaires ; Tertiary Care Centers ; Young Adult

The severity of systemic lupus erythematosus (SLE) patients with pulmonary bacterial infection varies widely. We investigated the significance of procalcitonin (PCT) and C-reactive protein (CRP) in evaluating the severity of pulmonary infection in SLE patients. This retrospective study contained a total of 117 patients (107 women and 10 men) with SLE from January 2010 to June 2011. Serum levels of PCT and CRP were measured by enzyme-linked immunosorbent assay. The severity of pulmonary bacterial infection (PBI) was evaluated using the pneumonia severity index (PSI). SLE patients with PBI, particularly those with bacterial isolates, had significantly higher levels of serum PCT and CRP than those without PBI. Serum PCT and CRP were not associated with SLE disease activity, but positively with the values of PSI in active SLE patients with PBI. Serum levels of PCT and CRP may be additional biomarkers in evaluating the severity of PBI in lupus patients.
Aged ; Bacterial Infections ; blood ; microbiology ; pathology ; C-Reactive Protein ; metabolism ; Calcitonin ; blood ; Female ; Humans ; Lung ; microbiology ; pathology ; Lupus Erythematosus, Systemic ; blood ; complications ; pathology ; Male ; Severity of Illness Index