Nutritional status in rheumatoid arthritis.

BACKGROUND & AIMS: Rheumatoid Arthritis (RA) is a chronic inflammatory autoimmune disease affecting the joints. It has been suggested that obesity increases the likelihood of RA development lowers the chance to achieve low disease activity and disease remission. The purpose of the study was to analyze the nutritional status of a cohort of persons with RA and compare to cohorts of persons with other arthritis and without. METHODS AND RESULTS: We used the NHANES database from 2015 to 2018, assessing anthropometric data, body composition, micronutrients, bone metabolism, protein content and laboratory data from those participants; and to compared to others without arthritis or with other forms of arthritis. We included 19,225 participants, with an estimation of population size of 637,323,765 and female preponderance of 52% and an average age of 38 ± 0,4 yrs. RA had an incidence of 4.5% and other arthritis (OA) of 15%. There was a higher prevalence of overweight and obesity, central obesity and percentage of body fat in RA and OA. Obesity related conditions such as dyslipidemia, diabetes, and hypertension were more prevalent in those participants. Fasting glucose levels, oral glucose tolerance test at 2 h, insulin levels and HbA1c were all significantly higher in persons with RA and OA. CONCLUSION: The higher prevalence of metabolic syndrome together with the inflammatory state of RA, constitute important cardiovascular risk factors, which should be addressed aggressively preferably by primary prevention.

Safety considerations when using drugs in pregnant patients with systemic lupus erythematosus.

Introduction: Systemic lupus erythematosus (SLE) mainly affects young females during childbearing age; therefore, reproductive issues are of major interest.Areas covered: Pregnancy planning is crucial to adjust the treatment toward drugs that are safe throughout pregnancy and breastfeeding. The evidence about drug safety is limited to post-marketing surveillance, registries, case series, and case reports, as pregnant patients are excluded from randomized clinical trials. The aim of this review is to report the safety considerations when treating pregnant SLE patients. Regarding maternal side effects of drugs, we focused on metabolic, infectious, and hemorrhagic complications. Fetal safety was analyzed looking at drugs teratogenicity, their possible effects on immune system, and on the long-term neuropsychological development of children.Expert opinion: The management of pregnancy in SLE has changed when knowledge about the safety of drugs has become available. Keeping SLE disease activity under control before, during and after pregnancy is of fundamental importance to ensure the best possible outcomes for mother and child. All these issues must be discussed with the patient and her family during preconception counseling. International efforts in terms of pregnancy registries and reproductive health guidelines help physicians improve their communication with SLE patients.

Biological Therapy in Patients with Rheumatoid Arthritis in a Tertiary Center in Portugal: A Cross-Sectional Study.

INTRODUCTION: Clinical outcomes in rheumatoid arthritis have greatly improved with therapeutic advances. Despite the availability of substantial clinical trial evidence, there is a lack of real-life data. The aim of this study was to assess disease status and quality of life in an outpatient population treated with biological disease-modifying anti-rheumatic drugs. MATERIAL AND METHODS: Cross-sectional study recalling all patients ever treated in our unit with biological disease-modifying antirheumatic drugs. Clinical and demographic data, compliance, disease activity, functional status, joint deformities, and comorbidities were documented, and patients queried on occupational status, education, marital status and generic health related quality of life questionnaires. RESULTS: Recall was attended by 77 of the original 94 patients. At recall, median age was 63 years old, 82% of the patients were female and the median disease duration was 12 years. Biological therapy was started at a median of four years following disease onset. According to the disease activity score (DAS28), the percentage of patients with high, moderate, low disease activity or remission changed from 50, 45, 0 and 5 (pre-therapy) to 11, 37, 25 and 26 at recall, respectively; functional status was significantly improved. Seventy-five per cent of the patients retained the original treatment with good compliance. Lower Short Form-36 domain scores accompanied a low EQ-5D-3L score. Deceased patients (n = 6) had a lower estimated 10-year survival rate. In this group, biological therapy was discontinued at a higher frequency during follow-up. DISCUSSION: A high disease activity and a high HAQ disability index characterized most patients at pre-bDMARD onset. CONCLUSION: Despite therapy switches and regular follow-up, a significant percentage of patients still presented with moderate disease activity, functional impairment and a poor health-related quality of life.

Introdução: Avanços no tratamento da artrite reumatóide contribuiram para uma evolução favorável. Apesar de evidências substanciais provenientes de ensaios clínicos, são menos conhecidos os dados provenientes da vida real. O objetivo do estudo foi caracterizar a doença e a qualidade de vida em doentes sob fármacos biotecnológicos. Material e Métodos: Trata-se de um estudo transversal com recolha de dados clínicos relativos à adesão terapêutica, atividade da doença, capacidade funcional, deformidades articulares, comorbilidades e questionários de qualidade de vida relacionada com a saúde, estado civil, situação profissional e escolaridade. Resultados: Foram recrutados 77 doentes do grupo original de um total de 94. A mediana da idade foi 63 anos, 82% do sexo feminino e início de biológico cerca de quatro anos após o início da doença, com uma mediana de duração de 12 anos. De acordo com o disease activity score (DAS28), a percentagem de doentes com atividade alta, moderada, baixa ou em remissão mudou, respectivamente, de 50, 45, 0 e 5 pré- biológico para 11, 37, 25 e 26 na altura da re-avaliação, com melhoria funcional. Setenta e cinco por cento dos doentes mantiveram o tratamento original com boa adesão. Pontuações mais baixas do short form-36 associaram-se a uma baixa pontuação no EQ-5D-3L. No grupo de doentes que viriam a falecer (n = 6), foi observada uma menor esperança de vida aos 10 anos, assim como uma maior discontinuação da terapêutica biológica. Discussão: Pré-biológico, uma elevada percentagem dos doentes apresentava elevada atividade da doença e incapacidade funcional. Conclusão: Não obstante ajustes terapêuticos e seguimento regular, uma percentagem significativa de doentes mantinha atividade moderada e limitação funcional com baixa qualidade de vida relacionada com a saúde.

The impact of COVID-19 on rare and complex connective tissue diseases: the experience of ERN ReCONNET.

During the COVID-19 pandemic, the need to provide high-level care for a large number of patients with COVID-19 has affected resourcing for, and limited the routine care of, all other conditions. The impact of this health emergency is particularly relevant in the rare connective tissue diseases (rCTDs) communities, as discussed in this Perspective article by the multi-stakeholder European Reference Network on Rare and Complex Connective Tissue and Musculoskeletal Diseases (ERN ReCONNET). The clinical, organizational and health economic challenges faced by health-care providers, institutions, patients and their families during the SARS-CoV-2 outbreak have demonstrated the importance of ensuring continuity of care in the management of rCTDs, including adequate diagnostics and monitoring protocols, and highlighted the need for a structured emergency strategy. The vulnerability of patients with rCTDs needs to be taken into account when planning future health policies, in preparation for not only the post-COVID era, but also any possible new health emergencies.

Dyspnea in antiphospholipid syndrome: Beyond pulmonary embolism.

Pulmonary embolism due to primary antiphospholipid syndrome is rarely associated with chronic thromboembolic pulmonary hypertension, and therefore according to the latest guidelines on pulmonary hypertension, routine screening is not recommended. We describe a young patient with a late diagnosis of chronic thromboembolic pulmonary hypertension in the context of pulmonary embolism, primary antiphospholipid syndrome and suboptimal anticoagulation. Of note, mild cardiopulmonary symptoms were consistently misattributed to a depressive disorder because physical examination was normal, serial Doppler echocardiography failed to show pulmonary hypertension, and all other diagnostic tests were normal. Once symptoms became severe, positive screening tests led to the correct diagnosis and surgical referral, and bilateral pulmonary endarterectomy was successfully performed. This case demonstrates the need for extra awareness in patients with antiphospholipid syndrome and pulmonary embolism.

Heterogeneous lupus-specific lesions and treatment outcome, in a single patient, over a period of time.

The report highlights the importance of strict clinico-histological correlations when skin biopsies are performed in diagnostic doubt in systemic lupus erythematosus. Furthermore, PUVA is never indicated in autoimmune conditions involving photosensitivity, due to high potential for internal and cutaneous aggravation of the disease, as the authors observed in this case.

Mandibular resorption and vocal cord paralysis: a catastrophic form of systemic sclerosis.

Sudden respiratory distress in association with severe weight loss are unusual features of systemic sclerosis (SSc). We report the case of a 56-year-old Caucasian woman with a 9-year history of a diffuse form of SSc who presented with acute stridor due to vocal cord paralysis and required an emergency tracheostomy. She had sought medical attention only after 4 years of disease onset, presenting with a mask-like face, diffuse skin thickening, acro-osteolysis and severe interstitial lung disease. Even though skin tightness improved after immunosuppressive treatment, several spontaneous facial fractures and episodes of dysphagia and choking occurred in the years that followed. At the time of stridor, she was severely malnourished and a percutaneous endoscopic gastrostomy was required for feeding. Permanent vocal cord damage in combination with severe loco-regional bone resorption resulted in severe disability and impaired nutrition. We hereby highlight the features of SSc for which therapy remains challenging.

Fatal CTLA-4 heterozygosity with autoimmunity and recurrent infections: a de novo mutation.

Primary immunodeficiency disorders are rarely diagnosed in adults but must be considered in the differential diagnosis of combined recurrent infections and autoimmune disease. We describe a patient with CTLA-4 haploinsufficiency and an abnormal regulatory T-cell phenotype. Unusually, infections were more severe than autoimmunity, illustrating therapeutic challenges in disease course.

Inferior vena cava diameters and collapsibility index reveal early volume depletion in a blood donor model.

BACKGROUND: Changes of volume status can be readily inferred from variations in diameter of the inferior vena cava (IVC) measured by ultrasound. However the effect of IVC changes following acute blood loss are not fully established. In this study, three different approaches to measuring IVC variables were compared in healthy blood donors, as a model of acute volume depletion, in order to establish their relative ability to detect acute blood loss. METHODS: Inspiratory and expiratory IVC diameters were measured before and after blood donation in hepatic long axis, hepatic short axis and renal short axis views using a 2-5 MHz curvilinear probe. All measurements were recorded and examined in real-time and post-processing sessions. RESULTS: All windows performed satisfactorily but the renal window approach was feasible in only 30 out of 47 subjects. After blood donation, IVC diameters decreased in hepatic long axis, hepatic short axis and renal short axis (expiratory: -19.9, -18.0, -26.5 %; CI 95 %: 14.5-24.1; 13.1-22.9; 16.0-35.9, respectively) (inspiratory: -31.1, -31.6, -36.5 %; CI 95 %: 21.3-40.1; 18.8-45.2; 23.4-46.0, respectively), whereas the IVC collapsibility index increased by 21.6, 22.6 and 19.3 % (CI 95 %: 11.6-42.9; 18.5-39.5; 7.7-30.0). IVC diameters appeared to return to pre-donation values within 20 min but this was only detected by the hepatic long axis view. CONCLUSIONS: IVC diameter and collapsibility index variations, as measured in M mode, consistently detect volume changes after blood donation. The longitudinal mid-hepatic approach performed better by allowing a panoramic view, avoiding anatomical aberrancies at fixed points and permitting to identify the best possible perpendicular plane to the IVC. In addition, it was able to detect time-dependent physiological volume replacement. In contrast, in our hands, the renal window could not be visualized consistently well.

Estimating the delay between onset and diagnosis of type 2 diabetes from the time course of retinopathy prevalence.

OBJECTIVE: By correlating known diabetes duration with the prevalence of retinopathy, more than 10 years have been estimated to lapse between the onset and diagnosis of type 2 diabetes. Such calculations, however, assumed a linear model, included stages of retinopathy not specific to diabetes, and allowed 5 years for retinopathy to occur after the onset of diabetes. We calculated the duration of undiagnosed type 2 diabetes in outpatients screened for retinopathy in a hospital-based diabetes clinic after correcting these assumptions. RESEARCH DESIGN AND METHODS: Diabetic patients (n = 12,074; 35,545 fundus examinations) were stratified into younger onset (YO; age at onset <30 years) or older onset (OO; age at onset ≥30 years), insulin treated (IT) or not IT (NIT), and with mild/more severe diabetic retinopathy (AnyDR) or moderate/more severe diabetic retinopathy (ModDR). The best-fitting equation correlating known duration among the OO-NIT group with the prevalence of ModDR was used to extrapolate time from appearance of retinopathy to diagnosis of type 2 diabetes. Time for retinopathy to develop after diabetes was calculated from the equation correlating the duration among the YO-IT group with appearance of ModDR. RESULTS: There were 1,719 patients in the OO-NIT group with AnyDR and 685 with ModDR and 756 in the YO-IT group with AnyDR and 385 with ModDR. A linear model showed ModDR appeared 2.66 years before diagnosis among those in the OO-NIT group. A quadratic model suggested that ModDR appeared 3.29 years after diagnosis among those in the YO-IT group. The resulting estimate was 6.05 years (2.66 + 3.29) between the onset and diagnosis of diabetes, compared with 13.36 years using standard criteria. CONCLUSIONS: Using best-fitting models and stratifying by glucose-lowering treatment and severity of retinopathy substantially lowers the estimated duration of undiagnosed type 2 diabetes.

The changing role of the endocrinologist in the care of patients with diabetic retinopathy.

Diabetic retinopathy (DR) is the most common microvascular complication of diabetes and still represents a leading cause of visual impairment in working age in industrialized countries. It develops following non proliferative (mild, moderate, or severe) and proliferative stages, the earliest being often asymptomatic and with diabetic macular edema potentially developing at any of these. The prevalence and incidence of DR increase with diabetes duration and worsening of metabolic and blood pressure control. Current approaches to prevent and/or treat DR include optimized control of blood glucose and blood pressure and screening for early identification of high risk, though still asymptomatic retinal lesions. Results from the recent clinical trials suggest a role for blockers of the renin-angiotensin system (angiotensin-converting enzyme inhibitors and angiotensin II receptor blockers) and for fenofibrate in reducing progression and/or inducing regression of mild to moderate non proliferative DR. Intra-vitreal administration of anti-vascular endothelial growth factor agents was shown to reduce visual loss in more advanced stages of DR, especially in macular edema.