Insulin resistance metabolomic profile in non-diabetic women with systemic lupus erythematosus.

INTRODUCTION: Patients with systemic lupus erythematosus (SLE) have a higher prevalence of insulin resistance (IR) and metabolic syndrome (MetS) than controls. OBJECTIVE: To evaluate IR in non-diabetic women with SLE by means of biomarkers using high-throughput metabolomic techniques. METHOD: Cross-sectional study in patients with SLE. A metabolomic approach was employed using ultra-high performance liquid chromatography coupled with high-resolution mass spectrometry. MetS was evaluated according to NCEP-ATP III criteria. RESULTS: Seventy patients with SLE were included, out of whom 45 (64.2%) and 27 (38.5%) had IR and MetS, respectively. Patients with IR had a higher body mass index and hypertension more often than those without IR. Chronic damage and disease activity were not related to IR. A Quantose-IR score ≥ 63 was more common in patients with MetS (81.5 vs. 53.5%; p = 0.02). Quantose-IR score was also correlated with the number of criteria for MetS (r: 0.35; p = 0.003). CONCLUSIONS: In non-diabetic women with SLE, the prevalence of IR based on Quantose-IR score was 64.2%.

INTRODUCCIÓN: En lupus eritematoso sistémico (LES) es más frecuente la prevalencia de resistencia a la insulina (RI) y síndrome metabólico (SMet) que en controles. OBJETIVO: Evaluar la RI en mujeres no diabéticas con LES mediante biomarcadores usando técnicas metabolómicas de alta resolución. MÉTODO: Estudio transversal en pacientes con LES. Se empleó un abordaje metabolómico usando cromatografía de líquidos de ultra-alta resolución con espectrometría de masa de alta resolución. El SMet fue evaluado de acuerdo con los criterios NCEP-ATP III. RESULTADOS: Se incluyeron 70 pacientes con LES. Tuvieron RI y SMet 45 (64.2%) y 27 (38.5%), respectivamente. Pacientes con RI tenían un mayor índice de masa corporal e hipertensión con mayor frecuencia que aquellas sin RI. El daño crónico y la actividad de la enfermedad no se relacionaron con RI. Un puntaje de Quantose RI ≥ 63 fue más elevado en pacientes con SMet (81.5 vs 53.5%; p = 0.02). El puntaje Quantose RI también se correlacionó con el número de criterios para SMet (r: 0.35; p = 0.003). CONCLUSIONES: En mujeres con LES no diabéticas, la prevalencia de RI basada en el puntaje de Quantose RI fue del 64.2%.

Epidemiological characteristics of patients with cutaneous lupus erythematosus.

INTRODUCTION AND OBJECTIVES: Lupus erythematosus is a chronic autoimmune inflammatory disease with a wide clinical spectrum and variable clinical course. Few studies have analyzed the characteristics of patients with only cutaneous lupus erythematosus (CLE). The aim of this study was to describe the epidemiological, clinical, and immunological characteristics of a series of patients diagnosed with CLE. PATIENTS AND METHODS: An analysis was performed of the data from all patients over 18 years of age with a diagnosis of CLE and seen between January 1, 2007 and December 31, 2011 in a tertiary hospital. RESULTS AND CONCLUSIONS: One hundred- one patients were included in the study. The mean age at diagnosis was 40 years and 84% were women. Subacute forms of presentation were observed in 94% of patients. The chronic discoid forms were localized to the head and neck in 79% of cases, whereas the subacute forms were on the trunk in 97% of cases. Patients with acute forms were positive for antinuclear, anti-DNA, anti-smooth muscle, and anti-RNP (ribonucleoprotein) antibodies, whereas anti-Ro and anti-La antibodies predominated in patients with subacute forms. Seventeen patients presented more than 1 subtype of CLE. Fifteen (88%) of these patients received immunosuppressor treatment versus 44 (52%) of the other 84 patients with only 1 subtype of CLE. Patients with distinct subtypes of CLE present different clinical and immunological characteristics. Oral immunosuppressants are often needed to control the disease in a large proportion of patients with different subtypes of CLE.

Multidisciplinary consensus on the use of hydroxychloroquine in patients with systemic lupus erythematosus.

BACKGROUND: Hydroxychloroquine (HCQ) is the first-line treatment for systemic lupus erythematosus (SLE); however, there is heterogeneity in its clinical use. This consensus aims to bridge the gap in SLE treatment by providing practical and valuable recommendations for health professionals. METHODS: The methodology used is based on a systematic literature review and a nominal group technique (NGT). A ten-member scientific committee formulated eight clinically relevant questions. First, a systematic review was conducted to identify the available evidence, which the scientific committee evaluated to developed recommendations based on their expertise, achieving consensus through NGT. RESULTS: 1673 titles and abstracts were screened, and 43 studies were included for meeting the inclusion criteria. The scientific committee established 11 recommendations for HCQ use in initiation, maintenance, and monitoring, considering benefits and potential adverse effects of HCQ. Unanimous agreement was achieved on all recommendations. CONCLUSIONS: The available evidence supports HCQ's effectiveness and safety for SLE. Individualized assessment of the initial HCQ dose is important, especially in situations requiring dose reduction or discontinuation. This risk-benefit assessment, specifically focusing on the balance between retinal toxicity and the risk of SLE relapse, should guide decisions regarding medication withdrawal, considering disease activity, risk factors, and HCQ potential benefits. Close monitoring is essential for optimal disease management and minimize potential risks, such as QT prolongation or retinal toxicity.

Comparing pregnancy outcomes in patients with Systemic Lupus Erythematosus (SLE) and Undifferentiated Connective Tissue Disease (UCTD): a descriptive cohort study.

BACKGROUND: Females diagnosed with systemic lupus erythematosus (SLE) face an elevated risk of adverse pregnancy outcomes (APOs). However, the evidence regarding whether a similar association exists in patients with undifferentiated connective tissue disease (UCTD) is inconclusive. METHODS: We conducted a retrospective review (2006-2019) of pregnancy outcomes among patients with SLE (n = 51) and UCTD (n = 20) within our institution. We examined the occurrence of various APOs, encompassing miscarriage, stillbirth, termination, preterm birth, pre-eclampsia, eclampsia, HELLP syndrome, intrauterine growth restriction, abruption placentae, congenital heart block, or other cardiac abnormalities. RESULTS: The mean age at pregnancy was 35 ±â€¯7.0 years for patients with SLE and 35 ±â€¯6.8 years for those with UCTD (p = 0.349). The proportion of Caucasian women was 47% in SLE and 80% in UCTD. Pregnancies in both groups were planned (81% in SLE and 77% in UCTD), and patients presented with inactive disease at conception (96% in SLE and 89% in UCTD). Hydroxychloroquine at conception was utilized by 86% of women with SLE, in contrast to 36% in the UCTD group. Both, SLE and UCTD cohorts exhibited low rates of disease flares during pregnancy and/or puerperium (14% vs. 10%). The incidence of APOs was 15.6% in SLE patients compared to 5% in those with UCTD (Risk difference 19.5%; 95% confidence interval: -3.9 to 43.1; p = 0.4237). CONCLUSION: Our study underscores the importance of strategic pregnancy planning and the maintenance of appropriate treatment throughout pregnancy to ensure optimal disease management and minimize adverse outcomes in both SLE and UCTD pregnancies.

Immune thrombocytopenia in systemic lupus erythematosus: Prevalence, risk factors, and a novel predictive model for risk assessment.

INTRODUCTION: Immune thrombocytopenia (ITP) is a potentially severe manifestation of systemic lupus erythematosus (SLE) reported in 7-40% of SLE patients. ITP has been associated with a higher risk of organ damage and mortality. OBJECTIVES: To describe which factors are associated with the presence of ITP in SLE patients. METHODS: Retrospective case-control study. Cases were defined as SLE patients who had ever developed ITP and were sex- and age-matched with two controls. A predictive model was constructed to identify SLE patients who were at risk of developing ITP. RESULTS: ITP prevalence in our SLE cohort was 8.35%. Cases had a higher frequency of hemolytic anemia, while controls had a higher prevalence of arthritis at SLE diagnosis. During SLE progression, cases tested positive for anticardiolipin, anti-ß2-glycoprotein 1, and lupus anticoagulant antibodies more frequently. Cases received mycophenolic acid and azathioprine more often than controls and had a higher SLICC/ACR score. The model demonstrated a sensitivity of 87.53%, a positive predictive value of 81.92%, a specificity of 80.50%, area under the curve of 83.92%, a F1 of 83% and an overall accuracy of 83.68%. The variables that best explain the model were hemolytic anemia, arthritis, oral ulcers, Raynaud's phenomenon, low C4, low CH50, anticardiolipin and anti-ß2GP1 antibodies. CONCLUSION: SLE patients who develop ITP have a distinct phenotype characterized by more hemolytic anemia and less arthritis at SLE onset, and higher prevalence of antiphospholipid syndrome antibodies during SLE progression. This phenotype is associated with heightened organ damage and the need for more intensive therapies and stricter follow-up. Our predictive model has demonstrated an impressive ability to identify SLE patients at risk of developing ITP.

[Study of the metabolic syndrome severity index as a predictive factor of a major cardiovascular event in premenopausal women with systemic lupus erythematosus]. / Estudio del índice de gravedad del síndrome metabólico como factor predictivo de un episodio cardiovascular mayor en mujeres premenopáusicas con lupus eritematoso sistémico.

BACKGROUND: Patients with systemic lupus erythematosus (SLE) have an increased risk of metabolic syndrome (MS) and cardiovascular (CV) disease. MS is evaluated binary, limiting the understanding of each component's severity individually. Therefore, severity scores for MS that evaluate them separately have been developed. This study aims to determine the prognosis between MS severity and the occurrence of major adverse cardiovascular events (MACE) in SLE patients. METHODS: Ten-year follow-up cohort study. Premenopausal>18-year-old women with a previous diagnosis of SLE were included. Patients with recent CV events, pregnancy, thyroid disease, and liposuction were excluded. The variables of interest were CV events; the confounding variables, and the MS severity indexes were examined. Hazard ratios and Kaplan-Meier survival curves were estimated through Cox regression. RESULTS: A total of 238 women were analyzed: 22 presented MACE, and 216 did not. MS prevalence, measured according to consensus and ATP-III criteria, was higher in MACE patients (50 and 40,95%, respectively). The MetSx-IMC severity index was higher within the MACE group. Cox analysis showed an increase in the MetSx-IMC associated with the risk of suffering MACE in a 1.107 ratio. CONCLUSIONS: The MetSx-IMC severity index, contrary to the binary approaches, is recommended to evaluate MS as a predictor of MACE in SLE patients. Offering improved and more accurate prognosis in patients at risk of developing MCE.

[Shrinking lung syndrome in systemic lupus erythematosus: A study of 9 patients]. / Síndrome del pulmón encogido asociado a lupus eritematoso sistémico: estudio de 9 pacientes.

INTRODUCTION: Shrinking lung syndrome (SLS) is a rare manifestation of systemic lupus erythematosus. Our aim was to describe the clinical, radiological, and functional characteristics of a cohort with SLS and its evolution over time. METHODS: A retrospective study was conducted between 2009 and 2018. Demographic, clinical, functional, radiological, and treatment data were collected. RESULTS: Out of a total of 225 patients, 11 presented with SLS (prevalence of 4.8%). Two patients were excluded. The mean age was 39.33±16 years, and 6 were female. The main symptoms were dyspnea and pleuritic pain. The mean forced vital capacity was 49%, total lung capacity was 60%, carbon monoxide diffusing capacity was 66%, carbon monoxide transference factor was 128%, maximal inspiratory pressure was 66%, and maximal expiratory pressure was 82%. All patients received corticosteroids. After a median follow-up of 19 months, 4 cases showed improvement, and 4 cases remained stable. CONCLUSIONS: SLS should be considered in every lupus patient with unexplained dyspnea. Although it often shows improvement, many cases experience persistent deterioration despite treatment.

Prevalence of neonatal lupus in a small group of antibody-carrying mothers and frequency of complete atrioventricular block.

BACKGROUND: Neonatal lupus (NL) is extremely rare and is caused by the transplacental passage of maternal IgG autoantibodies against Ro, La, and/or RNP proteins into the fetal circulation, which can cause congenital complete atrioventricular block (CCAB), permanent skin lesions, and liver involvement. OBJECTIVE: To know the prevalence of NL in patients with CCAB and the clinical course in long-term follow-up. METHODS: From January 1992 to December 2017, patients with CCAB were included. The presence of anti-SSA/Ro and anti-SSB/La antinuclear antibodies in maternal serum confirmed NL. RESULTS: Eight patients were included with a follow-up of 10 ± 6 years; NL was concluded in 62.5%; two were male. One of them was diagnosed in utero, two at birth, and a pacemaker was implanted in them, one at 12 years of age and another at 15. The other two cases were diagnosed at 18 and 26 years of age, and permanent pacemakers were implanted 8 and 5 years later, respectively. In one case, a definitive pacemaker was not implanted in a newborn with only 1 year of follow-up. At delivery, 60% of the mothers were free of rheumatic disease, and altogether, they all had 19 children; none of them presented NL manifestations. CONCLUSIONS: CCAB is rare and frequently associated with a maternal autoimmune disease, practically all of them will require a definitive pacemaker at some point in their lives.

ANTECEDENTES: El lupus neonatal (LN) es extremadamente raro y es ocasionado por el paso transplacentario de auto-anticuerpos maternos IgG contra las proteínas Ro, La y/o RNP a la circulación fetal que puede ocasionar bloqueo aurículo-ventricular completo congénito (BAVCC) permanente, lesiones dérmicas y afectación hepática. OBJETIVO: Conocer la prevalencia de LN en paciente con BAVCC y la evolución clínica en un seguimiento a largo plazo. MÉTODOS: De enero de 1992 a diciembre 2017 se incluyeron paciente con BAVCC. La presencia de anticuerpos antinucleares anti-SSA/Ro y anti-SSB/La en suero materno confirmó LN. RESULTADOS: Ocho pacientes fueron incluidos con seguimiento de 10 ± 6 años, el 62.5 % con LN; dos fueron del sexo masculino. Uno diagnosticado in útero, dos al nacimiento, en ellos se implantó marcapaso; uno a los 12 años de edad y otro a los 15. Los otros dos casos fueron diagnosticados a los 18 y 26 años, se implantó marcapaso definitivo en ellos 8 y 5 años después respectivamente. En un caso no se implantó marcapaso definitivo; un recién nacido con solo un año de seguimiento. Al dar a luz, el 60 % de las madres estaban libres de enfermedad reumática y en conjunto todas tuvieron 19 hijos, ninguno de ellos presentó manifestaciones de LN. CONCLUSIONES: El BAVCC es raro y frecuentemente está asociado a una enfermedad autoinmune materna, prácticamente todos requerirán de marcapaso definitivo en alguna época de su vida.

Impact of the COVID-19 pandemic on psychosocial health in rheumatic patients: A longitudinal study.

AIM: To describe the impact of the COVID-19 on the psychosocial health of patients with rheumatoid arthritis (RA), spondyloarthritis (SpA), and systemic lupus erythematosus (SLE). DESIGN: Longitudinal observational study of a series of patients with rheumatic disease. METHODS: The main outcome measure was impairment of the ability to participate in social activities, as measured using the PROMIS-APS instrument Short Form-8a. We evaluated social activities in various settings and performed a multivariate analysis to study the association between worsening of social participation during the COVID-19 pandemic and implicated factors. RESULTS: One hundred and twenty-five patients had completed the prospective follow-up: 40 with AR (32%), 42 with SpA (33.6%), and 43 with SLE (34.4%). Overall, poorer mean PROMIS scores were recorded after the COVID-19 pandemic for: satisfaction with social roles (p=0.029), depression (p=0.039), and ability to participate in social activities (p=0.024). The factors associated with ability to participate in social activities after the COVID-19 pandemic were older age (ß=-0.215; p=0.012), diagnosis of SLE (ß=-0.203; p=0.015), depression (ß=-0.295; p=0.003) and satisfaction with social roles (ß=0.211; p=0.037). CONCLUSION: The ability to participate in social activities after the COVID-19 pandemic is affected in patients with rheumatic disease, especially in SLE.

Relative CTLA-4, PTPN-22, and interleukin 37 mRNA expressions in patients with lupus nephritis.

OBJECTIVES: Systemic lupus erythematosus (SLE) is an autoimmune disease characterized by T-cell immune-dysregulation and loss of tolerance to self-antigens. CTLA-4 and PTPN-22 are involved in the inhibition of T-lymphocytes activation. IL-37 is an anti-inflammatory cytokine that suppresses innate immunity. The relative expression of CTLA-4, IL-37 and PTPN-22 were evaluated as negative regulators of immune response in SLE patients, lupus nephritis (LN) and disease activity. METHODS: Real-Time PCR was performed to determine relative CTLA-4, IL-37, and PTPN-22 mRNA expressions in fifty-eight SLE patients, who were divided into two groups: 29 SLE patients without nephritis and 29 patients with LN, versus fifty controls. RESULTS: There was a significantly high-expression of CTLA-4 and IL-37 genes in SLE patients compared to controls (p=0.005; 0.018 respectively). There was no difference in relative PTPN-22 mRNA expression between the SLE patients and controls. Relative CTLA-4 mRNA expression decreased in LN patients (p=0.044), however, relative IL-37 mRNA over-expressed in LN patients (p=0.001) compared to those without LN. There was a significant over-expression of relative IL-37 andPTPN-22 mRNA in active SLE patients. But, there was a non-significant difference in CTLA-4 expression with disease activity. Regression analysis revealed patients with relative IL-37 mRNA over-expression had two times more to develop lupus nephritis (OR=1.906, 95% CI=1.218-2.983, p=0.005). CONCLUSIONS: Relative IL-37mRNA expression was elevated in SLE patients and associated with renal involvement and disease activity. It could be considered as a new promising predicting tool for LN. Relative PTPN-22 mRNA expression was correlated with disease activity only in SLE patients.

Relevance of non-criteria antiphospholipid antibodies titers among patients with antiphospholipid syndrome and patients with systemic lupus erythematosus.

BACKGROUND: There is an increasing interest in the study of non-criteria antiphospholipid antibodies (aPL) including antibodies targeting domain 1 of the B2 glycoprotein 1 (anti-D1 B2GP1) and antibodies anti phosphatidylserine/ prothrombin (PS/PT). OBJECTIVES: Our aim was to analyze a panel of conventional and non-criteria aPL in a cohort of patients with systemic lupus erythematosus (SLE) and primary antiphospholipid syndrome (APS), to describe if there are differences in aPL titers among groups, to evaluate clinical associations including risk of recurrent events of novel aPL. METHODS: Observational study that evaluated at baseline antibodies against anti-D1 B2GP1 and anti PS/PT. Anti-D1 B2GP1 antibodies were tested using a chemiluminescent immunoassay. IgG and IgM anti PS/PT, aCL and anti B2GP1 by ELISA techniques. Therefore, patients were followed in order to identify new thrombotic events. RESULTS: 133 patients with SLE and 23 with primary APS patients were included. Main APS manifestations were DVT (27%), obstetric morbidity (22%) and arterial thrombosis (10.1%). IgM anti PS/PT antibodies levels were (20.6 - 127) vs 21.9 (11.2 - 39.2) U/ml, p<0.001 in primary APS vs SLE with APS, respectively. Anti-D1 B2GP1, IgG and IgM anti PS/PT were associated with thrombotic and non-thrombotic manifestations. During follow-up, IgG B2GP1 were related with a significant cumulative risk of thrombosis. CONCLUSIONS: We found significant differences in serum titers of non-criteria aPL among patients with primary APS vs SLE with APS. Whether non-criteria aPL antibodies titers are useful to differentiate patients with primary and secondary APS requires further analysis in other populations.

Severe and life-threatening onset of systemic lupus erythematosus.

Macrophage activation syndrome (MAS) is a potentially life-threatening complication of rheumatic diseases. We report a unique case of a previously healthy 20-year-old female presenting with MAS as first presentation of systemic lupus erythematosus. Remission was achieved with hydroxychloroquine, intravenous methylprednisolone pulse followed by oral prednisolone and cyclosporine. However, the management of MAS is still challenging, and the mortality rate remains high.

Acquired epidermolysis bullosa in a pediatric patient.

BACKGROUND: Acquired epidermolysis bullosa is a rare and chronic autoimmune subepidermal bullous disease characterized by the formation of autoantibodies against type VII collagen. Presentation in childhood is rare and with several manifestations. CASE REPORT: We report the case of a 12-year-old female patient who presented bullous and polymorphic lesions on the chest and extremities of several months of evolution. Due to the characteristics of the skin lesions, a histopathological and direct immunofluorescence study was conducted, confirming the diagnosis of acquired epidermolysis bullosa. Subsequently, corticosteroid and dapsone treatment was administered, with favorable clinical response during follow-up. CONCLUSIONS: Acquired epidermolysis bullosa is unusual in pediatric age, so it should be considered in the differential diagnosis of other congenital and acquired bullous diseases of childhood. The definitive diagnosis is performed through an immunofluorescence, study, which allows for rapid and effective treatment to control the disease and avoid permanent sequelae.

INTRODUCCIÓN: La epidermólisis bullosa adquirida es una enfermedad ampollar subepidérmica autoinmune, rara y crónica caracterizada por la formación de autoanticuerpos contra colágeno tipo VII. La presentación en la infancia es poco frecuente y con manifestaciones variables. CASO CLÍNICO: Se describe el caso de una paciente de sexo femenino de 12 años de edad que presentó lesiones ampollares y polimórficas en tórax y extremidades de varios meses de evolución. Por las características de las lesiones cutáneas, se realizó un estudio histopatológico y de inmunofluorescencia directa que confirmó el diagnóstico de epidermólisis bullosa adquirida, por lo que se administró tratamiento con corticoide y dapsona, con una respuesta clínica favorable durante el seguimiento. CONCLUSIONES: La epidermólisis bullosa adquirida es inusual en la edad pediátrica. Por tanto, debe considerarse en el diagnóstico diferencial de otras enfermedades ampollares congénitas y adquiridas de la infancia. El diagnóstico definitivo se realiza a través del estudio de inmunofluorescencia, lo que permite instaurar rápidamente un tratamiento rápido y eficaz para controlar la enfermedad y evitar secuelas permanentes.

Treatment of systemic lupus erythematosus: new therapeutic options.

Systemic lupus erythematosus (SLE) is a systemic autoimmune inflammatory disease of unknown cause, with heterogeneity in its clinical presentation, as well as variability in its clinical course and prognosis. The current goal of treatment is to achieve disease remission or a state of low activity, and thereby improve the patient's quality of life. Biological therapy in lupus, unlike other entities, although it has not been fully established, in recent years it has burst onto the scene with important therapeutic novelties. This review aims to update the therapeutic tools for the treatment of SLE focusing on the new molecules that have achieved the objectives of their clinical trials.

The impact of disease activity on health-related quality of life in patients with systemic lupus erythematosus.

BACKGROUND AND OBJECTIVE: The aim of this research was to investigate the relationship between disease activity and health-related quality of life (HRQoL) in patients with systemic lupus erythematosus (SLE) considering the increased interest in the management of this disease. MATERIALS AND METHODS: HRQoL was measured at clinic visits during a 12-month follow-up period using questionnaires on fatigue (FACIT-FATIGUE); quality of life, EuroQol 5-dimension (EQ-5D-5L) health questionnaire with 5 levels; disability, Health Assessment Questionnaire (HAQ), and a Global Health Status (GHS) scale. Disease activity, organ damage and other clinical factors that could affect HRQoL were recorded. The association between disease activity and HRQoL was assessed using Bayesian linear regression models with monotonic effects. RESULTS: Data from 70 patients at the baseline visit and 42 patients with 1 year of follow-up were analyzed. At baseline, 28.57% of patients presented Systemic Lupus Erythematosus Disease Activity Index (SLEDAI)>6. In the 70 baseline patients, disease activity was associated with HRQoL in all four parameters. In the 42 patients with 12 months of follow-up, the positive association of disease activity with GHS, FACIT-FATIGUE and EQ-5D-5L and the negative association with HAQ was maintained. Patients who are smokers and those receiving immunosuppressant therapy presented low GHS and FACIT-FATIGUE scores. Moreover, older age at inclusion was significantly associated to low GHS, while low leucocyte and 25-OH-vitamin D levels were associated to fatigue perception in SLE patients. CONCLUSION: Our results showed a statistically significant association between disease activity and HRQoL parameters.

Bilateral neuroretinitis and membranous lupus nephritis: 2 infrequent manifestations in juvenile lupus.

Fifteen-year-old female patient, previously healthy, referred to our center for presenting abdominal pain, vomiting, diarrhea, malar erythema, palpebral and lower limb edema, arthralgia, morning stiffness and bilateral blurred vision. Laboratory and imaging studies together with the clinic allowed the diagnosis of nephrotic syndrome secondary to systemic lupus erythematosus. Ophthalmology examination revealed a visual acuity of 8/10 in both eyes and bilateral disc edema with partial macular star, findings compatible with bilateral neuroretinitis. Renal biopsy established the diagnosis of membranous lupus nephritis. Immunosuppressive treatment was started, obtaining gradual clinical improvement. Although systemic lupus erythematosus with membranous lupus nephritis and neuroretinitis is a very infrequent association, when faced with a patient with bilateral neuroretinitis, we must consider systemic lupus erythematosus within the differential diagnoses.

Evaluation of epigenetic-related gene expression (DNMT, HDAC1) in Iranian patients with systemic lupus erythematosus.

BACKGROUND: Systemic lupus erythematosus (SLE) is an autoimmune disease in which the immune system abnormally reacts against cells and tissues leading to inflammation. Epigenetic alterations, including DNA methylation and histone modification, have critical effects on autoimmune disease and SLE pathogenesis via dysregulation of critical genes. AIMS: The purpose of this study was to evaluate the epigenetic-related gene expression of DNA methyltransferase (DNMT) and histone deacetylase 1 (HDAC1) in Iranian patients with SLE. METHODS: This matched case-control study included 16 people with SLE and 16 healthy people who were referred to the Rafsanjani rheumatology clinic, in southeast Iran. The expression of DNMT and HDAC1 genes was measured through a real-time PCR assay of blood samples. RESULTS: DNMT gene expression did not differ significantly between SLE and healthy groups (P=0.21). In contrast, HDAC1 gene expression was enhanced in the SLE group, but this enhancement failed to reach statistical significance (P=0.94). CONCLUSION: The results of this study suggest that overexpression of HDAC1 could serve as a diagnostic for SLE disease. Additional studies with larger sample sizes are required to confirm our findings. Evaluation of other genes related to SLE disease is essential and may help to make an accurate diagnosis of the disease.

Reduction of disease activity, corticosteroids use, and healthcare resource utilisation in patients with systemic lupus erythematosus treated with belimumab in clinical practice settings: OBSErve Spain multicentre study.

INTRODUCTION AND OBJECTIVES: This OBSErve Spain study, a part of the international OBSErve programme, evaluated belimumab real-world use and effectiveness following 6 months of treatment in patients with active systemic lupus erythematosus (SLE) in clinical practice in Spain. MATERIALS AND METHODS: In this retrospective, observational study (GSK Study 200883), eligible patients with SLE receiving intravenous belimumab (10mg/kg) had their disease activity (physician assessed), SELENA-SLEDAI scores, corticosteroid use, and healthcare resource utilisation (HCRU), assessed after 6 months of treatment versus index (belimumab initiation) or 6 months pre-index. RESULTS: Overall, 64 patients initiated belimumab, mainly due to ineffectiveness of previous treatments (78.1%) and to reduce corticosteroid use (57.8%). Following 6 months of treatment, 73.4% of patients achieved ≥20% overall clinical improvement, while only 3.1% of patients worsened. Mean (standard deviation, SD) SELENA-SLEDAI score decreased from 10.1 (6.2) at index to 4.5 (3.7) 6 months post-index. HCRU decreased from 6 months pre-index to 6 months post-index, with fewer hospitalisations (10.9% vs 4.7% patients) and ER visits (23.4% vs 9.4% patients). Mean (SD) corticosteroid dose decreased from 14.5 (12.5)mg/day at index to 6.4 (5.1)mg/day 6 months post-index. CONCLUSIONS: Patients with SLE receiving belimumab for 6 months in real-world clinical practice in Spain experienced clinical improvements and a reduction in HCRU and corticosteroid dose.

Cutaneous manifestations in patients with systemic lupus erythematosus: Forms at the beginning of the disease and during follow-up. Retrospective analysis.

OBJECTIVES: To describe skin involvement (SI) in patients with systemic lupus erythematosus (SLE) at onset and during follow-up of the disease and to determine factors associated with SI at lupus diagnosis. MATERIALS AND METHODS: Retrospective, observational, and descriptive study, from a single centre in patients diagnosed with SLE (ACR 1982-97 or SLICC 2012 criteria). The modified Gilliam classification for SI was used. Descriptive statistics and bivariate and multivariate analysis were performed to evaluate the factors associated with SI at diagnosis of the disease. RESULTS: 149 patients were included, 91.3% women with a median age at diagnosis of 33 years. SI at onset of the disease occurred in 125 patients (83.9%), followed by joint involvement in 120 cases (80.5%). Non-specific skin lesions were more frequent than specific lesions, 92.8% versus 66.4%, respectively. In the bivariate analysis, a longer delay to diagnosis, the presence of joint involvement, a lower presence of thrombocytopenia, and a higher SLEDAI-2K score were associated with the presence of SI at onset of the disease. In the multivariate analysis, the variable that remained independently associated was joint involvement (OR 2.8%-95% CI 1.1-7.5, p: .04). During follow-up, 4/24 patients who had not presented SI at diagnosis and 51/125 patients who had, had at least one new skin flare (range: 1-5 outbreaks). CONCLUSIONS: Our study demonstrates the high frequency of skin involvement in SLE, both diagnostically and evolutionarily, and confirms previously reported data regarding the existence of a skin-articular phenotype.