35-Year-old woman with generalized edema

Mujer de 35 años que consulta por edematización progresiva de ambos miembros inferiores y facial de una semana de evolución. Además, diez días antes del inicio de los edemas, la paciente había presentado una infección respiratoria de vías altas. En la exploración se objetivó una tensión arterial 156/95 mmHg y edemas en ambos miembros inferiores. Analíticamente destacaba la presencia de insuficiencia renal leve (creatinina de 1.42 mg/dL, urea 93 mg/dL), unos niveles de C3 disminuidos, un sedimento de orina patológico (con hematíes, cilindros hemáticos y proteínas) y una proteinuria en orina de 24h de 900 mg. El cultivo de frotis faríngeo fue negativo pero el ASLO se encontraba elevado (522 U/mL), lo que, añadido al curso clínico de la enfermedad, permitió establecer el diagnóstico de glomerulonefritis postestreptocócica. La paciente fue tratada con dieta pobre en sal, ARA-II y diuréticos, presentando una evolución favorable hasta alcanzarse una completa normalización de la función renal y la proteinuria.A 35-year-old woman presented with a one-week history of progressive oedema of both lower limbs and the face. Besides, the patient had suffered from an upper airways infection ten days before the onset of the oedemas. On examination, a blood pressure of 156/95 mmHg and oedema in both lower limbs were observed. Laboratory tests revealed the presence of mild renal impairment (creatinine 1.42 mg/dL, urea 93 mg/dL), decreased levels of C3, abnormal urine sediment (red cells, red cell casts and proteins) and a 24-hour urine protein of 900 mg. The throat swab culture was negative but the ASO was elevated (522 U/mL), which, added to the clinical course of the disease, established the diagnosis of poststreptococcal glomerulonephritis. The patient was treated with low-salt diet, diuretics and ARBs, showing a favourable evolution until reaching a complete normalization of the renal function and the proteinuria

Ambulatory follow-up of patients with lupus in a systemic autoimmune disease unit

Objetivos: Describir los síntomas referidos por los pacientes con lupus eritematoso sistémico (LES) durante su seguimiento ambulatorio en una Unidad de Enfermedades Autoinmunes Sistémicas (UEAS), la relación de éstos con el propio LES o con otras patologías y la necesidad de derivación a otros especialistas. Material y Métodos: Se realizó un análisis descriptivo prospectivo durante 5 meses que incluyó a 112 pacientes con LES en seguimiento ambulatorio por una UEAS. Se valoró la sintomatología padecida desde la última revisión, tuviera o no relación con el LES y la prevalencia de pacientes derivados a otros especialistas. Resultados: Ochenta (71.4%) pacientes presentaron sintomatología no explicable por el LES, destacando la artralgias por artrosis y el síndrome ansioso-depresivo. Presentaron síntomas asociados al LES 32 (23.5%) pacientes, siendo el brote articular en 10 (8.3%) pacientes, el brote renal en 8 (7.1%) y el brote cutáneo en 5 (4.4%) los más frecuentes. Por último, fueron derivados a otros especialistas 10 (8.3%) pacientes. Conclusiones: Durante el seguimiento ambulatorio en una UEAS de los pacientes con LES, la prevalencia de consultas por síntomas y enfermedades no relacionadas con el LES podría ser superior a aquellas atribuibles al propio LES, subrayando la necesidad de una visión global y multidisciplinar en el manejo de estos pacientes.Objectives: To describe the symptoms referred by the patients with systemic lupus erythematosus (SLE) during their ambulatory follow-up by an Autoinmune Disease Unit (ADU), the relationship between them and SLE itself or with other clinic entities and the need to refer lupus patients to other specialists. Methods: We performed a descriptive analysis during 5 months that included 112 patients with SLE with ambulatory follow-up by an ADU. We assessed the symptomatology suffered by the patients since the last visit, related or not to SLE, and the prevalence of patients referred to other specialists. Results: Eighty (71.4%) patients had symptoms no explainable by SLE, mainly due to arthralgias secondary to osteoarthrosis and anxiety-depressive syndrome. Thirty-two (23.5%) patients had symptoms related to SLE, the most frequent of which were articular flare in 10 (8.3%) patients, lupus nephritis in 8 (7.1%) and skin flare in 5 (4.4%). Finally, ten (8.3%) patients were referred to other specialists. Conclusions: During the ambulatory follow-up of patients with SLE in an ADU, the frequency of consultations for symptoms and illnesses no related to SLE may be higher than those secondary to SLE, highlighting the need of a global and multidisciplinary management of these patients

Impact of interstitial lung disease on the survival of systemic sclerosis with pulmonary arterial hypertension

To assess severity markers and outcomes of patients with systemic sclerosis (SSc) with or without pulmonary arterial hypertension (PAH-SSc/non-PAH-SSc), and the impact of interstitial lung disease (ILD) on PAH-SSc. Non-PAH-SSc patients from the Spanish SSc registry and PAH-SSc patients from the Spanish PAH registry were included. A total of 364 PAH-SSc and 1589 non-PAH-SSc patients were included. PAH-SSc patients had worse NYHA-functional class (NYHA-FC), worse forced vital capacity (FVC) (81.2 +/- 20.6% vs 93.6 +/- 20.6%, P < 0.001), worse tricuspid annular plane systolic excursion (TAPSE) (17.4 +/- 5.2 mm vs 19.9 +/- 6.7 mm, P < 0.001), higher incidence of pericardial effusion (30% vs 5.2%, P < 0.001) and similar prevalence of ILD (41.8% vs. 44.9%). In individuals with PAH-SSc, ILD was associated with worse hemodynamics and pulmonary function tests (PFT). Up-front combination therapy was used in 59.8% and 61.7% of patients with and without ILD, respectively. Five-year transplant-free survival rate was 41.1% in PAH-SSc patients and 93.9% in non-PAH-SSc patients (P < 0.001). Global survival of PAH-SSc patients was not affected by ILD regardless its severity. The multivariate survival analysis in PAH-SSc patients confirmed age at diagnosis, worse NYHA-FC, increased PVR, reduced DLCO, and lower management with up-front combination therapy as major risk factors. In conclusion, in PAH-SSc cohort risk of death was greatly increased by clinical, PFT, and hemodynamic factors, whereas it was decreased by up-front combination therapy. Concomitant ILD worsened hemodynamics and PFT in PAH-SSc but not survival regardless of FVC impairment

Impact of interstitial lung disease on the survival of systemic sclerosis with pulmonary arterial hypertension

To assess severity markers and outcomes of patients with systemic sclerosis (SSc) with or without pulmonary arterial hypertension (PAH-SSc/non-PAH-SSc), and the impact of interstitial lung disease (ILD) on PAH-SSc. Non-PAH-SSc patients from the Spanish SSc registry and PAH-SSc patients from the Spanish PAH registry were included. A total of 364 PAH-SSc and 1589 non-PAH-SSc patients were included. PAH-SSc patients had worse NYHA-functional class (NYHA-FC), worse forced vital capacity (FVC) (81.2 ± 20.6% vs 93.6 ± 20.6%, P &lt; 0.001), worse tricuspid annular plane systolic excursion (TAPSE) (17.4 ± 5.2 mm vs 19.9 ± 6.7 mm, P &lt; 0.001), higher incidence of pericardial effusion (30% vs 5.2%, P &lt; 0.001) and similar prevalence of ILD (41.8% vs. 44.9%). In individuals with PAH-SSc, ILD was associated with worse hemodynamics and pulmonary function tests (PFT). Up-front combination therapy was used in 59.8% and 61.7% of patients with and without ILD, respectively. Five-year transplant-free survival rate was 41.1% in PAH-SSc patients and 93.9% in non-PAH-SSc patients (P &lt; 0.001). Global survival of PAH-SSc patients was not affected by ILD regardless its severity. The multivariate survival analysis in PAH-SSc patients confirmed age at diagnosis, worse NYHA-FC, increased PVR, reduced DLCO, and lower management with up-front combination therapy as major risk factors. In conclusion, in PAH-SSc cohort risk of death was greatly increased by clinical, PFT, and hemodynamic factors, whereas it was decreased by up-front combination therapy. Concomitant ILD worsened hemodynamics and PFT in PAH-SSc but not survival regardless of FVC impairment

Cross-disease Meta-analysis of Genome-wide Association Studies for Systemic Sclerosis and Rheumatoid Arthritis Reveals IRF4 as a New Common Susceptibility Locus

Objectives: Systemic sclerosis (SSc) and rheumatoid arthritis (RA) are autoimmune diseases that share clinical and immunological characteristics. To date, several shared SSc- RA loci have been identified independently. In this study, we aimed to systematically search for new common SSc-RA loci through an inter-disease meta-GWAS strategy. Methods: We performed a meta-analysis combining GWAS datasets of SSc and RA using a strategy that allowed identification of loci with both same-direction and opposingdirection allelic effects. The top single-nucleotide polymorphisms (SNPs) were followed-up in independent SSc and RA case-control cohorts. This allowed us to increase the sample size to a total of 8,830 SSc patients, 16,870 RA patients and 43,393 controls. Results: The cross-disease meta-analysis of the GWAS datasets identified several loci with nominal association signals (P-value < 5 x 10-6), which also showed evidence of association in the disease-specific GWAS scan. These loci included several genomic regions not previously reported as shared loci, besides risk factors associated with both diseases in previous studies. The follow-up of the putatively new SSc-RA loci identified IRF4 as a shared risk factor for these two diseases (Pcombined = 3.29 x 10-12). In addition, the analysis of the biological relevance of the known SSc-RA shared loci pointed to the type I interferon and the interleukin 12 signaling pathways as the main common etiopathogenic factors. Conclusions: Our study has identified a novel shared locus, IRF4, for SSc and RA and highlighted the usefulness of cross-disease GWAS meta-analysis in the identification of common risk loci

Correction to: First clinical symptom as a prognostic factor in systemic sclerosis: results of a retrospective nationwide cohort study.

When first published, this article inadvertently listed the RESCLE investigators individually within the author list. The names should instead have been listed within the Acknowledgements section only. The corrected author list and the updated Acknowledgements section are presented in this Correction

Confirmation of CCR6 as a risk factor for anti-topoisomerase I antibodies in systemic sclerosis

The current knowledge of the influence of systemic sclerosis (SSc) risk loci in the clinical sub-phenotypes is still limited. The main limitation lies in the low frequency of some sub-phenotypes which could be solved by replication studies in independent cohorts and meta-analysis between studies. In this regard, CCR6 gene variants have been recently associated with anti-topoisomerase I positive (ATA+) production in SSc patients in a candidate gene study. This gene has been proposed to have a critical role in IL-17-driven autoimmunity in human diseases