Cranial and extracranial giant cell arteritis do not exhibit differences in the IL6 -174 G/C gene polymorphism

Since interleukin-6 (IL-6) is a pivotal proinflammatory cytokine implicated in the pathogenesis of giant cell arteritis (GCA), we aimed to determine the potential association of the functional IL6 -174 G/C polymorphism with GCA as well as if the single base change variation at the promoter region in the human IL-6 gene may account for differences in the clinical spectrum of GCA between cranial and extracranial large-vessel vasculitis (LVV)-GCA.Instituto de Salud Carlos III CM20/00006European Union (EU)Instituto de Salud Carlos III Spanish GovernmentMarie Curie Actions European Union (EU) RD16/0012/0014 PI17/00409Research Executive Agency (REA) of the European Union 734899-Olive-NetInstituto de Salud Carlos III Spanish GovernmentEuropean Social Fund (ESF) CP16/0003

Giant cell arteritis: is the clinical spectrum of the disease changing?

Background: Giant cell arteritis is a vasculitis of large and middle-sized arteries that affects patients aged over 50 years. It can show a typical clinical picture consisting of cranial manifestations but sometimes nonspecific symptoms and large-vessel involvement prevail. Prompt diagnosis and treatment is essential to avoid irreversible damage. Discussion: There has been an increasing knowledge on the occurrence of the disease without the typical cranial symptoms and its close relationship and overlap with polymyalgia rheumatica, and this may contribute to reduce the number of underdiagnosed patients. Although temporal artery biopsy is still the gold-standard and temporal artery ultrasonography is being widely used, newer imaging techniques (FDG-PET/TAC, MRI, CT) can be of valuable help to identify giant cell arteritis, in particular in those cases with a predominance of extracranial large-vessel manifestations. Conclusions: Giant cell arteritis is a more heterogeneous condition than previously thought. Awareness of all the potential clinical manifestations and judicious use of diagnostic tests may be an aid to avoid delayed detection and consequently ominous complications.This review was funded by Roche Farma S.A. Spain

Tumor necrosis factor-alpha inhibitor treatment for sarcoidosis

Sarcoidosis is a chronic multisystem disease of unknown etiology, characterized by noncaseating granulomatous infiltration of virtually any organ system. Treatment is often undertaken in an attempt to resolve symptoms or prevent progression to organ failure. Previous studies have suggested a prominent role for tumor necrosis factor-alpha (TNF-α) in the inflammatory process seen in sarcoidosis. TNF-α and interleukin-1 are released by alveolar macrophages in patients with active lung disease. Corticosteroids have proved to be efficacious in the treatment of sarcoidosis, possibly by suppressing the production of TNF-α and other cytokines. Three agents are currently available as specific TNF antagonists: etanercept, infliximab, and adalimumab. Although data from noncomparative trials suggest that all three have comparable therapeutic effects in rheumatoid arthritis, their effects in a granulomatous disease such as sarcoidosis are less consistent. In this review, current data on the effectiveness are summarized

IgA Vasculitis: Influence of CD40, BLK and BANK1 Gene Polymorphisms

CD40, BLK and BANK1 genes involved in the development and signaling of B-cells are identified as susceptibility loci for numerous inflammatory diseases. Accordingly, we assessed the potential influence of CD40, BLK and BANK1 on the pathogenesis of immunoglobulin-A vasculitis (IgAV), predominantly a B-lymphocyte inflammatory condition. Three genetic variants within CD40 (rs1883832, rs1535045, rs4813003) and BLK (rs2254546, rs2736340, rs2618476) as well as two BANK1 polymorphisms (rs10516487, rs3733197), previously associated with inflammatory diseases, were genotyped in 382 Caucasian patients with IgAV and 955 sex- and ethnically matched healthy controls. No statistically significant differences were observed in the genotype and allele frequencies of CD40, BLK and BANK1 when IgAV patients and healthy controls were compared. Similar results were found when CD40, BLK and BANK1 genotypes or alleles frequencies were compared between patients with IgAV stratified according to the age at disease onset or to the presence/absence of gastrointestinal or renal manifestations. Moreover, no CD40, BLK and BANK1 haplotype differences were disclosed between patients with IgAV and healthy controls and between patients with IgAV stratified according to the clinical characteristics mentioned above. Our findings indicate that CD40, BLK and BANK1 do not contribute to the genetic background of IgAV.European CommissionInstituto de Salud Carlos III" (ISCIII, Health Ministry, Spain) PI18/00042 PI21/00042 Instituto de Salud Carlos IIIEuropean Social Fund (ESF) CM20/00006RICORS Program from ISCIIIEuropean Commission RD21/0002/0025RETICS Program (ISCIII) RD16/0012/0009RETICS Program (European Regional Development Fund (ERDF) RD16/0012/0009European Union FEDER fund RD16/0012/0014 PI17/00409Research Executive Agency (REA) of the European Union 734899Miguel Servet type II program fellowship from the ISCIIIESF ("Investing in your future") CPII21/0000

Differential protein expression in peripheral blood mononuclear cells (PBMCs) on patients withd systemic lupus erythematosus (SLE)

Comunicaciones a congreso

Oral Calcidiol Is More Effective Than Cholecalciferol Supplementation to Reach Adequate 25(OH)D Levels in Patients with Autoimmune Diseases Chronically Treated with Low Doses of Glucocorticoids: A "Real-Life" Study

Glucocorticoids (GCs) are the cornerstone of the therapy in many autoimmune and inflammatory diseases. However, it is well known that their use is a double edged sword, as their beneficial effects are associated almost universally with unwanted effects, as, for example glucocorticoid-induced osteoporosis (GIO). Over the last years, several clinical practice guidelines emphasize the need of preventing bone mass loss and reduce the incidence of fractures associated with GC use. Calcium and vitamin D supplementation, as adjunctive therapy, are included in all the practice guidelines. However, no standard vitamin D dose has been established. Several studies with postmenopausal women show that maintaining the levels above 30-33 ng/mL help improve the response to bisphosphonates. It is unknown if the response is the same in GIO, but in the clinical practice the levels are maintained at around the same values. In this study we demonstrate that patients with autoimmune diseases, undergoing glucocorticoid therapy, often present suboptimal 25(OH)D levels. Patients with higher body mass index and those receiving higher doses of glucocorticoids are at increased risk of having lower levels of 25(OH)D. In these patients, calcidiol supplementations are more effective than cholecalciferol to reach adequate 25(OH)D levels

Effect of COVID-19 confinement on the mental status of patients with systemic lupus erythematosus

Antecedentes y objetivo: Las pacientes con lupus eritematoso sistémico (LES) son más vulnerables a presentar mayores niveles de estrés y síntomas psicopatológicos que la población general sana, por lo que el brote de la COVID-19 podría alterar su estado psicológico. El objetivo fue analizar el impacto psicológico de la pandemia y del confinamiento sobre los niveles de estrés y sintomatología psicopatológica en pacientes con LES. Pacientes y método: En este estudio transversal se compararon niveles de estrés mediante la Escala de Estrés Percibido y el Inventario de Vulnerabilidad al Estrés, y síntomas psicopatológicos mediante el Inventario de síntomas SCL-90-R, en pacientes con LES durante el período de confinamiento (grupo 1; n = 276) con respecto a pacientes con LES evaluadas en un período anterior a la pandemia (grupo 2; n = 152). Resultados: La comparación entre ambos grupos mostró que existían diferencias estadísticamente significativas en vulnerabilidad al estrés (p < 0,0001), depresión (p ≤ 0,05), ansiedad (p ≤ 0,05), ansiedad fóbica (p < 0,0001), sensibilidad interpersonal (p ≤ 0,043), y psicoticismo (p ≤ 0,023). En estas variables el grupo de pacientes con lupus en confinamiento obtuvo puntuaciones superiores. Conclusiones: El confinamiento y la amenaza del brote por COVID-19 ha tenido importantes repercusiones en el estado psicológico de las pacientes con LES, mostrando altos niveles de estrés, ansiedad y depresión. Estos hallazgos muestran su vulnerabilidad ante una alerta de salud pública, y señala la necesidad de realizar un abordaje psicológico de estas pacientes mientras dure el estado de emergencia sanitaria, así como ante posibles rebrotes del virus.Background and objective: Patients with systemic lupus erythematosus (SLE) are more vulnerable to higher levels of stress and psychopathological symptoms than the general healthy population. Therefore, the COVID-19 outbreak could alter their psychological state. The objective was to analyze the psychological impact of the pandemic and confinement on stress levels and psychopathological symptoms in patients with SLE. Patients and method: In this cross-sectional study, stress levels were compared with the Perceived Stress Scale, the Stress Vulnerability Inventory and psychopathological symptoms of the SCL-90-R Symptom Inventory in patients with SLE during the period of confinement (group 1; n = 276) in comparison to patients with SLE evaluated in a period before the pandemic (group 2; n = 152). Results: The comparison between both groups showed there were statistically significant differences in vulnerability to stress (P < .0001), depression (P ≤ .05), anxiety (P ≤ .05), phobic anxiety (P < .0001), interpersonal sensitivity (P ≤ .043), and psychoticism (P ≤ .023). In these variables, the group of patients with lupus in confinement obtained higher scores. Conclusions: The confinement and threat of the COVID-19 outbreak had important repercussions on the psychological state of patients with SLE with high levels of stress, anxiety, and depression. These findings show their vulnerability to a public health alert and indicate the need to carry out a psychological approach to these patients while the state of health emergency lasts as well as to possible outbreaks of the virus

Contribution of Telomere Length to Systemic Sclerosis Onset: A Mendelian Randomization Study

Mendelian randomization; Systemic sclerosis; Telomere lengthAleatorització mendeliana; Esclerosi sistèmica; Longitud dels telòmersAleatorización mendeliana; Esclerosis sistémica; Longitud de los telómerosAlthough previous studies have suggested a relationship between telomere shortening and systemic sclerosis (SSc), the association between these two traits remains poorly understood. The objective of this study was to assess the causal relationship between telomere length in leukocytes (LTL) and SSc using the two-sample Mendelian randomization approach, with the genome-wide association study data for both LTL and SSc. The results of inverse-variance weighted regression (OR = 0.716 [95% CI 0.528–0.970], p = 0.031) and the Mendelian randomization pleiotropy residual sum and outlier method (OR = 0.716 [95% CI 0.563–0.911], p = 0.035) indicate an association between telomere length and SSc. Specifically, longer genetically predicted LTL is associated with a reduced risk of SSc. Sensitivity tests highlight the significant roles of the variants rs10936599 and rs2736100 annotated to the TERC and TERT genes, respectively. Our findings suggest an influence of telomere length in leukocytes on the development of SSc.This work was supported by Redes de Investigación Cooperativa Orientadas a Resultados en Salud (RICORS) (RD21/0002/0039) funded by Instituto de Salud Carlos III (ISCIII) from the Spanish Ministry of Science and Innovation. M.A.H. is a recipient of a Miguel Servet fellowship (CP21/00132) from ISCIII. G.V.M was funded by Grant PRE2019-087586 funded by MCIN/AEI/10.13039/501100011033 and by “ESF Investing in your future”. I.R.M was supported by the program FPU (FPU21/02746) funded by the Spanish Ministry of University

Necrotizing Sarcoid Granulomatosis: A Disease Not to be Forgotten

Sarcoidosis is a systemic granulomatous disease of unknown aetiology characterised by the appearance of noncaseifying epithelioid granulomas in the affected organs, most commonly the lungs, skin, and eyes (Iannuzzi et al. 2007). Necrotizing Sarcoid Granulomatosis (NGS) is a rare and little-known form of disease, which also presents nodular lung lesions, and it shares pathologic and clinical findings with sarcoidosis, where the presence of necrosis may lead to misdiagnosis of tuberculosis (TB), leading to a consequent delay in treatment of the underlying entity (Chong et al. 2015). ,is is exactly what happened with the two cases that we present here

Mesenteric Inflammatory Venoocclusive Disease in a Patient with Sjögren’s Syndrome

Mesenteric inflammatory venoocclusive disease is an uncommon cause of intestinal ischemia. Certain diseases, such as hypercoagulation disorders, autoimmune diseases, or drugs have been associated with the pathogenesis of mesenteric inflammatory venoocclusive disease. Here, we report a patient with Sjögren’s syndrome who underwent surgery for suspected acute appendicitis with a subsequent pathological diagnosis of mesenteric inflammatory venoocclusive disease