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Retzius-sparing robot-assisted radical prostatectomy (RS-RARP) has emerged as a surgical option for patients with prostatic cancer in high-volume centers. The objective is to assess oncological and functional outcomes when implementing RS-RARP in a medium-volume center without previous experience of robotic surgery. This is a prospective observational single-center study. Patients operated between July 2017 and April 2020 were divided into two consecutive groups, A and B, each with 104 patients. The surgeons had prior experience in laparoscopic surgery and underwent robotic training. Positive surgical margin (PSM) status, urinary continence, and erectile function projected by Kaplan–Meier curves, together with patient reported quality of life outcomes at 12 months post-surgery were documented. Median patient age was 63 years (IQR = 59–67), overall PSM rate were 33%, 28% for pT2 disease. Pre-operative values showed no significant difference between both groups. The rate of urinary continence dropped from 81 to 78% (SE = 5.7) (Group A) and from 90 to 72% (SE = 6.3) (Group B) using the International Consultation on Incontinence Questionnaire-Short Form. Baseline sexual function was regained in 41% (Group A) and 47% (Group B) of patients. The median Expanded Prostate Index Composite-26 total score decreased from 86 to 82. These outcomes relate favorably to prior reports. There was a clinically significant decrease in median operative time in the successive groups with post-operative complications occurring in less than 2% of surgical procedures overall. A 12-month follow-up suggests that RS-RARP may be safely introduced in a medium-volume center without previous experience of robotic surgery.

Objective: We aimed to identify features that allow differentiation of primary antiphospholipid syndrome (PAPS) patients that suffer recurrent thrombotic events (RTE) despite anticoagulation, from the other diagnosed PAPS patients. Methods: This was an exploratory study of anticoagulated PAPS patients attending an Autoimmune Diseases Unit (1998-2018). From 2016, anti-phospholipid antibodies and lupus anticoagulant were determined for each patient at consecutive visits, collected together with retrospective clinical characteristics, laboratory, and therapeutic markers and compared according to the occurrence of thrombotic events during follow-up. Results: Overall, two thirds of the patients were female, 93% were Caucasian, with a median age of 40 years at diagnosis, for a median time of 11.5 years in follow-up. Out of 54 patients, 10 were identified with RTE. There were no significant differences among the RTE and non-RTE patients as far as classical risk factors for clotting disorders. The RTE group was characterized by a higher proportion of younger patients, male sex and positivity for all laboratory markers, and initially and over follow-up as well as a sustained high-risk profile based on APS laboratory markers. Anticardiolipin IgG at onset was the only statistically significant marker of the RTE group. At the end of follow-up, consistent reversion to negative status was a rare event, observed in 20% of RTE vs. 25% of non-RTE patients. Conclusions: Despite therapy, we were able to identify features associated to thrombotic events in patients with PAPS. Prospectively regular clinical and laboratory monitoring might be warranted in order to treat APS more assertively. info:eu-repo/semantics/publishedVersion

Neurosarcoidosis presents a diagnostic challenge in clinical settings, as it has no pathognomonic symptoms or signs and a wide range of differential diagnoses. The aim of this report is to present the pathological features of our group of patients, obtained through a systematic diagnostic approach. This retrospective cohort study enrolled all adult patients primarily diagnosed with neurosarcoidosis at the neurology department of a tertiary center in Sweden over a period of 30 years, from 1990 to 2021. We identified 90 patients, 54 with possible neurosarcoidosis and 36 with probable neurosarcoidosis. CNS biopsy revealed an alternative diagnosis for 24 patients, who were then excluded. The collected data from medical records included demographic and clinical characteristics, systemic and/or neurological isolated involvement, various laboratory tests, including cerebrospinal fluid (CSF), serum analysis, imaging studies (MRI, FDG-PET/CT, and HRCT), nerve conduction studies, electromyography, and pathology reports of central nervous system (CNS), and extra-neural tissue biopsies. Sixty-six patients were included in our cohort. The median age at onset of symptoms was 49 years, with a similar sex distribution. Cranial neuropathies (38%), motor deficit (32%), headache (16%), and pituitary dysfunction (12%) were the most common presenting features. CSF studies were abnormal in 77% of the patients, who showed lymphocytosis (57%), elevated protein (44%), oligoclonal bands (40%), elevated ACE (28%), and raised T lymphocyte CD4+/CD8+ ratios (13%). Strikingly, MRI showed that 17% of the patients presented with isolated pituitary gland lesions. FDG-PET/CT was performed in 22 patients (33%) and confirmed systemic sarcoidosis in 11. Despite our extensive workup, the final classification for our patients only allowed for a definite diagnosis in 14 patients; the remainder were classified as probable (32) or possible (20) neurosarcoidosis. Since 2007, the employment of a structured laboratory and imaging approach and the increasing number of CNS biopsies have facilitated and improved the process of correct attribution in patients with presumptive neurosarcoidosis, especially in patients with isolated neurological lesions. We highlight a higher frequency of pituitary lesions due to neurosarcoidosis than has been classically described. A detailed laboratory diagnostic workup is included.

Interstitial lung disease is a well-recognised manifestation and a major cause of morbidity and mortality in patients with connective tissue diseases. Interstitial lung disease may arise in the context of an established connective tissue disease or be the initial manifestation of an otherwise occult autoimmune disorder. Early detection and characterisation are paramount for adequate patient management and require a multidisciplinary approach, in which imaging plays a vital role. Computed tomography is currently the imaging method of choice; however, other imaging techniques have recently been investigated, namely ultrasound, magnetic resonance imaging, and positron-emission tomography, with promising results. The aim of this review is to describe the imaging findings of connective tissue disease-related interstitial lung disease and explain the role of each imaging technique in diagnosis and disease characterisation. info:eu-repo/semantics/publishedVersion

In this study, we aimed to evaluate long-term patient survival according to demographic data, clinical manifestations of systemic lupus erythematosus (SLE) and previous and current treatments, collected retrospectively. Patient selection required a minimum of four American College of Rheumatology revised criteria for SLE, biopsy-proven lupus nephritis (LN) available for reclassification according to the modified National Institutes of Health proposal for activity and chronicity indices and a minimum follow-up of at least three years since the last renal biopsy. Selection criteria were fulfilled in 25 patients followed for a median of 21 years. Based on the last renal biopsy, an equal number of patients were thus classified as class I/II and IV ( n=8) and class III and V ( n = 4). The mortality rate for LN was 14%. Having ever been diagnosed with glomerulonephritis (GN) type III or type IV but not class IV alone ( p = 0.046), a higher histological chronicity index at the last renal biopsy ( p = 0.022), not attaining renal remission one year after induction therapy ( p = 0.004), end-stage renal disease on dialysis ( p = 0.033) and the extra-renal Systemic Lupus International Collaborating Clinics Damage Index score ( p = 0.017) were all significantly associated with mortality. Our results may provide important clues for strict observation protocols in particular categories of LN patients with long-standing disease.

© Copyright Clinical and Experimental Rheumatology 2022., Objectives: To define the clinical spectrum time-course and prognosis of non-Asian patients positive for anti-MDA5 antibodies. Methods: We conducted a multicentre, international, retrospective cohort study. Results: 149 anti-MDA5 positive patients (median onset age 53 years, median disease duration 18 months), mainly females (100, 67%), were included. Dermatomyositis (64, 43%) and amyopathic dermatomyositis (47, 31%), were the main diagnosis; 15 patients (10%) were classified as interstitial pneumonia with autoimmune features (IPAF) and 7 (5%) as rheumatoid arthritis. The main clinical findings observed were myositis (84, 56%), interstitial lung disease (ILD) (108, 78%), skin lesions (111, 74%), and arthritis (76, 51%). The onset of these manifestations was not concomitant in 74 cases (50%). Of note, 32 (21.5%) patients were admitted to the intensive care unit for rapidly progressive-ILD, which occurred in median 2 months from lung involvement detection, in the majority of cases (28, 19%) despite previous immunosuppressive treatment. One-third of patients (47, 32% each) was ANA and anti-ENA antibodies negative and a similar percentage was anti-Ro52 kDa antibodies positive. Non-specific interstitial pneumonia (65, 60%), organising pneumonia (23, 21%), and usual interstitial pneumonia-like pattern (14, 13%) were the main ILD patterns observed. Twenty-six patients died (17%), 19 (13%) had a rapidly progressive-ILD. Conclusions: The clinical spectrum of the anti-MDA5 antibodies-related disease is heterogeneous. Rapidly-progressive ILD deeply impacts the prognosis also in non-Asian patients, occurring early during the disease course. Anti-MDA5 antibody positivity should be considered even when baseline autoimmune screening is negative, anti-Ro52 kDa antibodies are positive, and radiology findings show a NSIP pattern.

Purpose To compare choroidal thickness (CT) between patients with systemic lupus erythematosus (SLE) without ophthalmologic manifestations and a control group. To study the effects in CT of disease duration, activity index, medication and systemic comorbidities. Methods Cross-sectional study where spectral-domain optical coherence tomography with enhanced depth imaging was used to measure CT in 13 locations, subfoveally and at 500-µm intervals along a horizontal and a vertical section from the fovea. Linear regression models were used. Results Sixty-eight SLE patients and fifty healthy controls were enrolled. CT multivariable analysis revealed lower values in SLE patients (12.93-26.73 µm thinner) in all locations, except the inferior quadrants (6.48-10.44 µm thicker); however, none of these results reached statistical significance. Contrary to the control group, the normal topographic variation in CT between macular quadrants and from the center to the periphery was not observed in the SLE group. Multivariable analysis in the SLE group alone revealed a significant negative association with anticoagulants (50.10-56.09 µm thinner) and lupus nephritis (40.79-58.63 µm thinner). Contrary to controls, the CT of SLE patients did not respond to changes in mean arterial pressure. Conclusion CT in SLE appears to be thinner, particularly in the subset of patients with nephritis and taking anticoagulants, suggesting more advanced systemic vascular disease. Choroidal responses to hemodynamic changes may also be altered in SLE.

SAPHO (synovitis, acne, pustulosis, hyperostosis and osteitis) syndrome is a heterogeneous condition combining osteoarticular and cutaneous manifestations. Conventional treatments are mostly ineffective. We hereby report two patients, the first with an aggressive form of disease and the second with an incomplete response to two different anti-TNF-α agents. Both were successfully treated with tocilizumab and ustekinumab, respectively, over a long period of time. A narrative review of a biological therapy in SAPHO syndrome yielded very little information on the specific use of these agents. We highlight the advantages of personalising therapy and describe emerging promising treatments for this disease. info:eu-repo/semantics/publishedVersion

BACKGROUND/OBJECTIVES: To prospectively evaluate changes in peripapillary retinal nerve fibre layer (pRNFL), in all macular layers and in choroidal thickness (CT) in a cohort of systemic lupus erythematosus (SLE) patients without ophthalmologic manifestations. To associate those changes with ophthalmic characteristics, disease activity state, medication and systemic comorbidities. SUBJECTS/METHODS: Prospective cohort study of 68 previously diagnosed SLE patients. In two study visits (V1 and V2) at least 12 months apart, patients underwent a complete ophthalmologic examination including spectral domain-optical coherence tomography (SD-OCT) and an autoimmune disease specialist assessment. Automatic retinal segmentation was performed. pRNFL was determined globally and in the six peripapillary sectors and each macular layer thickness was determined in the nine early treatment diabetic retinopathy study (ETDRS) subfields. CT was manually measured at 13 locations in the posterior pole. Only one eye per patient was randomly selected for inclusion. Generalised linear mixed effects models were employed. RESULTS: Sixty-five patients completed the study. The median follow-up time was twelve months. At V2, pRNFL was significantly thinner globally (p = 0.006) and in the temporal inferior sector (p = 0.017). Patients under chronic medication with anticoagulants or antihypertensives had significantly thinner pRNFL in some locations. No significant changes were observed in macular layers or choroidal thickness between study visits. CONCLUSIONS: SLE patients presented early SD-OCT signs of neurodegeneration, evidenced by a progressive reduction in pRNFL thickness. Regardless of study visit, baseline chronic medication with anticoagulants or antihypertensives was associated with lower pRNFL thickness, accounting for a deleterious effect of cardiovascular risk factors.

Summary Forkhead box P3 (FoxP3)+ regulatory T cells (Tregs) are functionally deficient in systemic lupus erythematosus (SLE), characterized by reduced surface CD25 [the interleukin (IL)-2 receptor alpha chain]. Low-dose IL-2 therapy is a promising current approach to correct this defect. To elucidate the origins of the SLE Treg phenotype, we studied its role through developmentally defined regulatory T cell (Treg) subsets in 45 SLE patients, 103 SLE-unaffected first-degree relatives and 61 unrelated healthy control subjects, and genetic association with the CD25-encoding IL2RA locus. We identified two separate, uncorrelated effects contributing to Treg CD25. (1) SLE patients and unaffected relatives remarkably shared CD25 reduction versus controls, particularly in the developmentally earliest CD4+FoxP3+CD45RO–CD31+ recent thymic emigrant Tregs. This first component effect influenced the proportions of circulating CD4+FoxP3highCD45RO+ activated Tregs. (2) In contrast, patients and unaffected relatives differed sharply in their activated Treg CD25 state: while relatives as control subjects up-regulated CD25 strongly in these cells during differentiation from naive Tregs, SLE patients specifically failed to do so. This CD25 up-regulation depended upon IL2RA genetic variation and was related functionally to the proliferation of activated Tregs, but not to their circulating numbers. Both effects were found related to T cell IL-2 production. Our results point to (1) a heritable, intrathymic mechanism responsible for reduced CD25 on early Tregs and decreased activation capacity in an extended risk population, which can be compensated by (2) functionally independent CD25 up-regulation upon peripheral Treg activation that is selectively deficient in patients. We expect that Treg-directed therapies can be monitored more effectively when taking this distinction into account.

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.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.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.A high disease activity and a high HAQ disability index characterized most patients at pre-bDMARD onset.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.

A 23-year-old woman with fever, oral ulcers, arthalgias and weight loss of 2-week duration suddenly developed blurred vision, with reduced visual acuity, cotton wool exudates and retinal vascular tortuosity. Laboratory testing revealed anaemia, lymphopaenia, positive antinuclear antibody and high anti-dsDNA antibody titre with low complement components. There was no evidence of infection, clinching the diagnosis of lupus retinopathy. Steroid therapy alone was highly effective and was also accompanied by a normalisation of haemoglobin and lymphocyte counts, after which azathioprine was added. Hydroxychloroquine was introduced after resolution of retinal changes. Immunosuppressive therapy was progressively tapered over the course of 12 months and then discontinued, and the patient remains in remission 48 months after the initial presentation. Our patient exemplifies a very rare manifestation of systemic lupus erythematosus. We emphasise the importance of its early detection and complexity of treatment in order to reduce visual morbidity.

Objective Detailed analysis of hematological manifestations (HM) in systemic lupus erythematosus (SLE) are limited and their clinical impact on disease remain obscure. Here, we aimed to decipher factors associated with different hematological abnormalities in SLE patients and to assess their impact on disease related outcomes. Methods A dataset (GIPT) originating from SLE patients of six European tertiary centers was assessed. Six-monthly visits of each patient for at least 2 years were registered. The association between hematologic manifestations (HM; per ACR-1997criteria) and clinical/serologic variables, as well as the impact of HM on disease related outcomes (damage, infection and hemorrhage) were explored. Scores on the Systemic Lupus Erythematosus Disease Activity Index 2000(SLEDAI2K), the Systemic Lupus International Collaborating Clinics (SLICC)/American College of Rheumatology (ACR) Damage Index (SDI) and events for any infection and hemorrhage were recorded. Results were compared with a cross-sectional, well-characterized SLE dataset from Sweden. Descriptive statistics, the generalized estimating equations (GEE), general linear models (GLM), Cox regression models were applied. Results We monitored 1425 longitudinal visits in 286 SLE patients with HM (GIPT dataset: 88% female, 95% Caucasian, 68% dsDNA positive). Thrombocytopenia (regression coefficient [95% confidence interval] 1.86[1.1–3.13]) and neurologic involvement (ACR-8) (2.1[1.10–3.89]) were associated with lymphopenia ( Conclusion : Lymphopenia in SLE is independently associated with neurologic involvement and organ damage accrual, and thus, may be considered as a marker of severe/progressive disease.

We read with interest, the results of the faSScinate trial1 suggesting tocilizumab had a good safety profile in the treatment of systemic sclerosis-associated interstitial lung disease (SSc-ILD). SSc-ILD is, however, a heterogeneous condition classified according to radiological and histopathological findings. Usual interstitial pneumonia (UIP) is much less frequent than non-specific interstitial pneumonia (approximately 10% and 75% respectively), with no difference in prognosis and survival reported between these two main entities.2 An earlier report in tocilizumab-treated patients with severe SSc-lung fibrosis reported respiratory function stabilisation in two but slight deterioration in one of the patients.3 Based on this evidence, we treated one patient in breast cancer remission, with clinical and functional respiratory deterioration and a UIP pattern of SSc-ILD, with off-label tocilizumab. We, hereby, report a reversible life-threatening episode of acute alveolitis that led to treatment discontinuation. In June 2009, a previously healthy 43-year-old female smoker of Portuguese ancestry experienced Raynaud phenomenon (RP). Three months later, an oestrogen-receptor-positive ductal breast carcinoma was diagnosed and treated by tumorectomy, axillary lymphadenectomy, radiotherapy and tamoxifen. Twelve months after the onset of RP, she developed severely pruritic and diffusely progressive skin thickening, dyspnoea, gastro-oesophageal reflux, recurrent digital ulceration and large joint arthritis. By July 2010, the modified …

Idiopathic inflammatory myopathies (IIMs) encompass a heterogeneous group of rare autoimmune diseases characterised by muscle weakness and inflammation, but in antisynthetase syndrome arthritis and interstitial lung disease are more frequent and often inaugurate the disease. Clinical practice guidelines (CPGs) have been proposed for IIMs, but they are sparse and heterogeneous. This work aimed at identifying: i) current available CPGs for IIMs, ii) patients ’ and clinicians’ unmet needs not covered by CPGs. It has been performed in the framework of the European Reference Network on rare and complex connective tissue and musculoskeletal diseases (ReCONNET), a network of centre of expertise and patients funded by the European Union’s Health Programme. Fourteen original CPGs were identified, notably recommending that: i) extra-muscular involvements should be assessed; ii) corticosteroids and methotrexate or azathioprine are first-line therapies of IIMs. ii) IVIG is a treatment of resistant-DM that may be also used in other resistant-IIMs; iii) physical therapy and sun protection (in DM patients) are part of the treatment; v) tumour screening for patients with DM include imaging of chest, abdomen, pelvis and breast (in woman) along with colonoscopy (in patients over 50 years); vi) disease activity and damages should be monitor using standardised and validated tools. Yet, only half of these CPGs were evidence-based. Crucial unmet needs were identified both by patients and clinicians. In particular, there was a lack of large multidisciplinary working group and of patients ’ preferences. The following fields were not or inappropriately targeted: diagnosis; management of extra-muscular involvements other than skin; co-morbidities and severe manifestations.

Background: Systemic Lupus Erythematous (SLE) and Primary Sjogren Syndrome (pSS) are systemic autoimmune diseases, both associated with neurological and psychiatric manifestations. In SLE there are several questionnaires used for neuropsychiatric screening and evaluation, however for pSS there are no specific tools available. Their development is required in order to standardize symptom assessment and allow for accurate disease prevalence estimation. Objectives: The main objective of this project is to assess the prevalence of neurological and psychiatric manifestations in our cohort of SLE and pSS patients through the adaptation to Portuguese of a screening questionnaire developed by Mosca et al 2010(1) and its relationship to quality of life. Methods: A cross sectional study was performed by applying a screening questionnaire, adapted from Mosca et al (1), to patients with SLE and pSS. The outcomes were evaluated both as binary (neurologic (ND≥9 pts) and psychiatric (PD≥10 pts) disease versus no disease) and continuous variables (score average) and in relationship to demographic data, disease scores (SLEDAI and SLICC, and ESSDAI and ESSPRI) and a quality of life instrument (VAS score). Results: A total of 70 participants (16 pSS and 54 SLE patients) participated in the study. Neurological disease was present in 63% and 48% and psychiatric disease in 25% and 15% of pSS and SLE patients, respectively. There was a statistically significant association between the presence of neurological and psychiatric disease and quality of life (pSS PD 20 vs 75, p-value 0.004; SLE ND 60 vs 80, p-value 0.001 and PD 50 vs 76.5, p-value 0.008). There was a trend for higher ESSPRI scores, with higher psychiatric scores (0.54 Spearman correlation coefficient; p-value=0.03). SLE higher neurological scores correlated with older age (0.34 Spearman correlation coefficient, p-value=0.01). Conclusion: The questionnaire yielded a frequency of neurological and psychiatric disease similar to literature, as well as correlation to quality of life. This study represents the first step in the validation process for the Portuguese language but results should be regarded with caution considering this questionnaire was designed for screening and not for diagnosis. References [1] - Mosca M, Govoni M, Tomietto P, Aringer M, Boumpas D, Cervera R, et al. The development of a simple questionnaire to screen patients with SLE for the presence of neuropsychiatric symptoms in routine clinical practice. Lupus. 2011 Acknowledgement: We would like to thank Dr Jose Miguel Jara, psychiatrist in Hospital Curry Cabral and Dr Manuel Goncalves Pereira, from the Department of Mental Heatlh, Faculty of Medical Sciences – NOVA University, Lisbon, for help adapting the psychiatric questions. We would like also to thank Professor Brian Claggett for help in statistical issues, as well as the Harvard Medical School Portuguese Clinical Research Training. Disclosure of Interests: None declared

Background: It is generally assumed that once Antiphospholipid syndrome (APS) is diagnosed, patients should be treated with anticoagulation (ACO), possibly for a lifetime1. Objectives: Our main objective was the characterization of a group of patients with primary APS, evaluation of clinical profile, presence of APS antibodies (Ab) over time, recurrent thrombotic events and treatment. Methods: Demographic and clinical features of patients with APS were identified through the Unit’s database. APL significant titers were retrospectively collected, 3, 6 and 9 months, every 6 months until year 6, every year until the last follow-up. LAC and aPL Ab (anticardiolipin IgG and Beta-2 Glycoprotein 1 IgG) were considered positive or negative by DRVVT/ELISA. Comparisons were made using the Wilcoxon Rank Sum and Chi square tests, p values Results: 67 patients were analysed; the majority were female (n=49); mean average age of APS diagnosis was at 40[±13] y-old. Evaluation period: 2 - 20 years. 52 patients had at least one thrombotic event: 7 arterial thrombosis, 30 venous thrombosis and 8 both arterial and venous thrombotic events; 7 patients had obstetrical APS and one of these had both thrombotic and obstetrical APS; 9 had severe non-thrombotic APS manifestations. Fifty-four patients are currently under warfarin, 8 of which had a thrombotic event despite ACO. Patients could be grouped into two distinct patterns: those that became persistently antibody negative (aPL-; n=19) and those in whom the antibodies remained positive, persistently or intermittently (aPL+; n=48). The major difference between groups was the occurrence of cumulative double or triple positivity in 69% of aPL+ versus 37% in aPL- (p=0.026). There were no significant differences in age, age at diagnosis, duration of the disease and frequency/type of thrombosis, between each group (Table I). From the group that became persistently aPL-, 3 patients suspended ACO, without any event after 2 years of follow-Up. Conclusion: Our study suggests that more than one aPL/LAC positivity is associated with antibody persistence over time. In our small series, as previously reported, ACO was safely discontinued in selected patients that become aPL-, in the absence of other risk factors for thrombotic events2. Regular antibodies measurements may help identify a subset of patients in whom ACO may be safely discontinued under careful observation. References: Disclosure of Interests: None declared

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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. info:eu-repo/semantics/publishedVersion

The coexistence of human immunodeficiency virus (HIV) and systemic lupus erythematosus (SLE) appears to be unusual and the prevalence of patients who carry the dual diagnosis is currently unknown. We hereby present a case of a C4 deficient HIV-1 positive Caucasian female under highly active antiretroviral therapy for the past eight years, admitted to hospital with an aggressive and potentially fatal clinical presentation of SLE. There was a favorable outcome despite a significant diagnostic delay. Despite its rarity, the case highlights that this association is remarkable and may be overlooked by clinicians familiar with either condition.

© Author(s) (or their employer(s)) 2019. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ, This article has been corrected since it first published. The authors would like to notify that title of the article has been changed to:Idiopathic inflammatory myopathies: state of the art on clinical practice guidelines. RMD Open 2019;5:e000784corr1. doi:10.1136/rmdopen-2018-000784cor, Idiopathic inflammatory myopathies (IIMs) encompass a heterogeneous group of rare autoimmune diseases characterised by muscle weakness and inflammation, but in antisynthetase syndrome arthritis and interstitial lung disease are more frequent and often inaugurate the disease. Clinical practice guidelines (CPGs) have been proposed for IIMs, but they are sparse and heterogeneous. This work aimed at identifying: i) current available CPGs for IIMs, ii) patients’ and clinicians’ unmet needs not covered by CPGs. It has been performed in the framework of the European Reference Network on rare and complex connective tissue and musculoskeletal diseases (ReCONNET), a network of centre of expertise and patients funded by the European Union’s Health Programme. Fourteen original CPGs were identified, notably recommending that: i) extra-muscular involvements should be assessed; ii) corticosteroids and methotrexate or azathioprine are first-line therapies of IIMs. iii) IVIG is a treatment of resistantDM that may be also used in other resistant-IIMs; iv) physical therapy and sun protection (in DM patients) are part of the treatment; v) tumour screening for patients with DM include imaging of chest, abdomen, pelvis and breast (in woman) along with colonoscopy (in patients over 50 years); vi) disease activity and damages should be monitor using standardised and validated tools. Yet, only half of these CPGs were evidence-based. Crucial unmet needs were identified both by patients and clinicians. In particular, there was a lack of large multidisciplinary working group and of patients’ preferences. The following fields were not or inappropriately targeted: diagnosis; management of extra-muscular involvements other than skin; co-morbidities and severe manifestations., This publication was funded by the European Union’s Health Programme (2014-2020), Framework Partnership Agreement number: 739531 – ERN ReCONNET. The content of this publication represents the views of the authors only and it is their sole responsibility; it cannot be considered to reflect the views of the European Commission and/or the Consumers, Health, Agriculture and Food Executive Agency (CHAFEA) or any other body of the European Union. The European Commission and the Agency do not accept any responsibility for use that may be made of the information it contains.

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Article published with errors: https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/10658 On page 312, where the authors’ line reads as: Carolina VIDAL 1 , Carina RUANO 2 , Vera BERNARDINO 3 , Pedro LAVADO CARREIRA 3 , Ana LLADO 3 , Maria Ceu SANTOS 4 , Heidi GRUNER 3 , Antonio PANARRA 3 , Nuno RISO 3 , Maria Francisca MORAES-FONTES AC,1 It should read: Carolina VIDAL 1,2 , Carina RUANO 3 , Vera BERNARDINO 1 , Pedro LAVADO CARREIRA 1 , Ana LLADO 1 , Maria Ceu SANTOS 4 , Heidi GRUNER 1 , Antonio PANARRA 1 , Nuno RISO 1 , Maria Francisca MORAES-FONTES AC,1 On the same page, where the authors’ affiliation on the footer reads as: Servico de Medicina Interna. Hospital do Divino Espirito Santo de Ponta Delgada. Sao Miguel. Portugal. Servico de Radiologia. Hospital de Santa Marta. Centro Hospitalar de Lisboa Central. Lisboa. Portugal. Unidade de Doencas Auto-Imunes/Servico Medicina 7.2. Hospital de Curry Cabral. Centro Hospitalar de Lisboa Central. Lisboa. Portugal. Laboratorio de Imunologia. Centro Hospitalar de Lisboa Central. Lisboa. Portugal. It should read: Unidade de Doencas Auto-Imunes/Servico Medicina 7.2. Hospital de Curry Cabral. Centro Hospitalar de Lisboa Central. Lisboa. Portugal. Servico de Medicina Interna. Hospital do Divino Espirito Santo de Ponta Delgada. Sao Miguel. Portugal. Servico de Radiologia. Hospital de Santa Marta. Centro Hospitalar de Lisboa Central. Lisboa. Portugal. Laboratorio de Imunologia. Centro Hospitalar de Lisboa Central. Lisboa. Portugal.

Systemic lupus erythematosus (SLE) is an autoimmune connective tissue disorder that can involve any organ system. Central nervous system involvement can be a severe life threatening complication, ultimately resulting in severe neurodegenerative changes. Magnetic resonance imaging suggests that neurodegeneration, which may have deleterious effects on brain function, may occur early in SLE and experimental models suggest that neuroprotection may be feasible and beneficial. The retina is an extension of the brain. Recent ophthalmic imaging technologies are capable of identifying early changes in retinal and choroidal morphology and circulation that may reflect CNS degeneration. However, their utility in monitoring CNS involvement in SLE has been poorly studied as these have only been performed in small cohorts, in a cross-sectional design, non-quantitatively and without correlation to disease activity. The authors aim to review the current understanding of neurodegeneration associated with SLE, with particular focus on the visual pathway. We describe the neuropathology of the visual system in SLE and the evidence for retinal and choroidal neurodegenerative and microvascular changes using optical coherence tomography technology. We aim to describe the potential role of optical imaging modalities in NPSLE diagnosis and their likely impact on the study of neuronal function. info:eu-repo/semantics/publishedVersion

Systemic sclerosis is a complex disorder that requires systematic screening. Our objective is to report the European Scleroderma Trials and Research group centre affiliation and its impact in our clinical practice.The European Scleroderma Trials and Research group affiliation process, database update and current patient evaluation, with respect to demographic and clinical features. Cumulative mortality was analysed.We identified 19 female patients (which met all the American College of Rheumatology/ European League Against Rheumatism 2013 criteria for systemic sclerosis) under current follow-up, divided according to the LeRoy classification into diffuse cutaneous (n = 5), limited cutaneous (n = 11) and limited (n = 3) types, followed for a median period of 5, 12 and 6 years, respectively. Raynaud´s phenomenon and abnormal nailfold capillaries were universally present. Interstitial lung disease was absent in the limited cutaneous form but present in 100% of the diffuse subtype. Pitting scars were more common in the diffuse form. Active disease was also more frequent in the diffuse form, and most patients with active disease were treated with anti-endothelin receptor antagonists. Over 21 years (from 1994 to 2015) the mortality rate was 55% (n = 23/42). Age at time of death was significantly lower in the diffuse subtype.Our single centre cohort shares many features with larger and international reports and more specifically is in accordance with patient characteristics described in the European Scleroderma Trials and Research group registries.The European Scleroderma Trials and Research group registration motivated our systematic patient characterization and may be used as a tool for homogenous disease registries.Introdução: A esclerose sistémica é uma doença complexa que requer uma vigilância regular e sistemática. Este estudo teve como objetivo divulgar a afiliação da nossa Unidade no registo Europeu Scleroderma Trials and Research group e o seu impacto na prática clínica. Material e Métodos: Processo de afiliação Scleroderma Trials and Research group, atualização da base de dados, avaliação sistemática das características demográficas e clínicas dos doentes em seguimento e análise da mortalidade cumulativa. Resultados: Foram identificados 19 doentes do sexo feminino (com preenchimento completo dos critérios de classificação de esclerose sistémica do American College of Rheumatology/ European League Against Rheumatism 2013), seguidas no momento atual e divididas pela classificação de LeRoy em três formas: cutânea difusa (n = 5), cutânea limitada (n = 11) e limitada (n = 3), com um período de seguimento com uma duração mediana de 5, 12 e 6 anos, respetivamente. O fenómeno de Raynaud e as anomalias nos capilares peri-ungueais estavam presentes em todas as doentes. Todas as doentes com a forma difusa apresentavam doença intersticial pulmonar, ausente na forma cutânea limitada. As pitting scars foram mais frequentes na forma difusa. A doença ativa foi mais frequente na forma difusa, na sua maioria tratada com antagonistas dos recetores da endotelina. Num período de 21 anos (de 1994 a 2015), a mortalidade foi de 55% (n = 23/42). A expectativa de vida nos doentes com a forma difusa estava significativamente reduzida quando comparada com a forma localizada. Discussão: O nosso grupo de doentes é semelhante a outros de maiores dimensões e cariz internacional e, mais especificamente, enquadra-se nas características dos doentes registados nos registos Scleroderma Trials and Research group. Conclusão: O registo Scleroderma Trials and Research group incentivou uma caracterização sistemática e pode revelar-se um veículo para a criação de registos mais homogéneos.

Background/purpose Despite effectiveness and favourable safety profile, antimalarials have the potential to cause irreversible macular retinopathy. Screening methods have evolved over the last decade and the optimal dose of hydroxychloroquine (HCQ) is now set at under 5 mg/kg real body weight. HCQ in Portugal comes only as a 400 mg pill and in 10 pills per package, which is neither friendly for optimising safe dosing nor for promoting compliance. This study aims to test the frequency of retinal hydroxychloroquine toxicity in a single-centre cohort. Methods Cross-sectional study conducted between January-2016 and May-2017, of a convenience sample of chronically compliant and well characterised patients. The screening strategy consisted of automated threshold visual fields and objective test: spectral-domain optical coherence tomography, fundus autofluorescence and multifocal electroretinogram. Toxicity was diagnosed on the basis of compatible visual fields defects together with at least one positive objective test. Univariate statistical analysis was performed using the Wilcoxon Mann-Whitney (WMW) and Chi-Square (CS) tests for non-parametric distributed data. Results Of the 62 patients screened, 32 (51%) had no prior ophthalmological examination. Median age was 46 years (y), IQR 37–60; range 27–83; 59 (95%) were female; the majority, 28 (45%) took HCQ due to SLE, 4 (6%) for Sjogren syndrome, 12 (19%) for UCTD, 11 (18%) for incomplete/cutaneous forms of lupus and 7 (11%) for other CTD. No patient had concomitant renal or liver disease. Median duration and cumulative dose were respectively 8 y (IQR 3–12; range 0.4–31) and 1168 g (IQR 584–2044; range 36–8760). Retinal toxicity was confirmed in 6 SLE and 1 non-SLE patient; in all HCQ was stopped (2/7 screen-naive; 1/7 on tamoxifen; 1/7 with visual loss). Toxicity correlated to disease (p=0,003) and HCQ therapy (p=0,002) duration, cumulative HCQ dose (p=0,001) and SLE (p=0,04). Table 1 dose adjustments were performed in 13 patients. Conclusion Using a standardised referral protocol for HCQ retinopathy screening led to cessation of therapy due to toxicity (11%) and adjustment of daily dosing (21%). This study highlights that regular adjustment of dose and retinal toxicity screening is mandatory in patients on prolonged HCQ therapy and reinforces lobbying for more flexible dosages. In addition, HCQ toxicity raises the need for alternative therapies in patients with CTD.

Purpose Lupus Low Disease Activity State (LLDAS) was defined and validated in 2016 by a panel of lupus experts. When attained, it seems to be associated with prediction of clinical improvement and allow a treat-2-target (T2T) approach in clinical care. LLDAS definition was applied to the cohort of SLE patients followed at our Autoimmune Disease Unit and correlated with damage accrual. Methods Demographic, clinical and immunological features were recorded at baseline. Data were prospectively collected from January 2013 to July 2017. At each consultation during the study period, disease activity, current therapy and fulfilment of LLDAS were registered, except for the Physician Global Assessment which was not recorded. Organ damage progression was evaluated by SLICC damage index at inclusion and at the last evaluation. Spearman´s rho test was used, with p Results 76 patients were included: 93.4% females, 88.2% Caucasian, mean age and mean disease duration at inclusion 45.9±13.3 and 14.0±8.3 years, mean of follow-up at recruitment of 9.4±5.1 years. Overall, 1043 visits were performed. As regards LLDAS achievement, 90.8% of patients were in LLDAS at least in 25% of the time, 76.3% at least in 50%, 55.3% at least in 75%, 31.6% at least in 90% and 15.8% for the entire follow-up. At the last observation 33 patients (43.4%) were on treatment with glucocorticoids, 42.1% had their dose reduced during the study and 86,8% were under a dose of 7.5 mg daily; 8 patients were taking belimumab, 2 rituximab and 2 cyclophosphamide. Median SLICC at onset and last visit were 0 and 1, respectively, and IQR SLICC was the same (IQR, −1.5–2.5). The time in LLDAS was associated to less number of global flares (CC −0.541, p Conclusions Majority of our patients were in LLDAS during the follow-up period of 4.5 years. LLDAS was associated with less global flares, but not with reduced organ damage. Further studies are important in order to conclude if these targets could be attained more actively with T2T approaches.

Purpose Long term immunosuppressive therapy (IST) in systemic lupus erythematosus (SLE) requires constant adjustment according to severity and organ involvement. This ongoing study aims to implement hydroxychloroquine therapy, reduce unnecessary IST, while achieving disease remission without worsening damage. Methods A 3Rs strategy (Reduction, Replacement and Refinement) was implemented and therapy adjusted considering overall disease activity and safety profile. SLE patients from a single centre were followed between January 2013 and July 2017. Inclusion criteria: ACR criteria fulfilment; diagnosis from >1 year. Demographic and clinical features were registered at inclusion; SLEDAI-2K, therapy and flares recorded at inclusion and at each visit. SLICC damage index was calculated at inclusion and at the end. Data were analysed using SPSS. Results At inclusion (n=79), 94% were females, median age 45 (IQR 36–57), mostly Caucasians (89%). Median disease duration was 13 (IQR 7–20). SLEDAI-2K at inclusion was 3) at baseline were younger, with less disease duration, not enriched for a specific phenotype. Percentages of azathioprine and mycophenolate were reduced from 35 and 8 to 23 and 6, respectively, similar to interim results (39 months); hydroxychloroquine use remained >70% (10 discontinuations due to retinopathy). In contrast, steroids were steadily reduced from 68% to 42% and are now used at Conclusions The 3Rs strategy allowed to reduce unnecessary IST, especially in low disease activity group. Flares rates were in accordance to recent reports. In a long term perspective, our quest to reduce steroid burden seems promising.

We present a case report of a 42 year old female, diagnosed at the age of 3 with Juvenile Dermatomyositis. The clinical course was severe and refractory to immunosuppressive therapy. Currently, she is mostly affected by severe muscle atrophy, large joint contractures, calcinosis, and a lipodystrophy associated metabolic syndrome with hypertriglyceridemia, insulin resistance, high total testosterone and hepatic steatosis. She developed Hodgkin´s lymphoma in the course of her disease. Personalized therapeutic choices are discussed as regards juvenile dermatomyositis complications. info:eu-repo/semantics/publishedVersion

A 18-year-old woman with systemic lupus erythematosus (SLE) presented with right sided migraine and blurred vision of the right eye. Ophthalmologic evaluation revealed multiple bilateral exudative retinal detachments, with increased choroidal thickness measured with optical coherence tomography (OCT). Acute renal dysfunction contraindicated fluorescein or indocyanine green angiography. The presence of choroidopathy was the first presentation of lupus nephritis. She was treated with corticosteroids and immunosuppressive agents with resolution of serous retinal detachments and complete remission of proteinuria and renal function. OCT may be a key exam for the early diagnosis of choroidopathy and implementation of appropriate therapeutic measures, necessary to prevent permanent damage.

© Author(s) (or their employer(s)) 2019. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ, The term 'undifferentiated connective tissue disease' (UCTD) is generally used to describe clinical entities characterised by clinical and serological manifestations of systemic autoimmune diseases but not fulfilling the criteria for defined connective tissue diseases (CTDs). In this narrative review, we summarise the results of a systematic literature research, which was performed as part of the ERN ReCONNET project, aimed at evaluating existing clinical practice guidelines (CPGs) or recommendations. No specific CPG on UCTD were found, potential areas of intervention are absence of a consensus definition of UCTD, need for specific monitoring and therapeutic protocols, stratification of UCTD based on the risk of developing a defined CTD and preventive measure for the future development of a more severe condition. Patients feel uncertainty regarding the name of the disease and feel the need of a better education and understanding of these conditions and its possible changes over time., This publication was funded by the European Union’s Health Programme (2014-2020).

Systemic lupus erythematosus (SLE) is the paradigm of systemic autoimmune diseases characterised by a wide spectrum of clinical manifestations with an unpredictable relapsing-remitting course. The aim of the present work was to identify current available clinical practice guidelines (CPGs) for SLE, to provide their review and to identify physicians' and patients' unmet needs. Twenty-three original guidelines published between 2004 and 2017 were identified. Many aspects of disease management are covered, including global disease management, lupus nephritis and neuropsychiatric involvement, management of pregnancies, vaccinations and comorbidities monitoring. Unmet needs relate with disease management of some clinical manifestations and adherence to treatment. Many patient's unmet needs have been identified starting with faster diagnosis, need for more therapeutic options, guidelines on lifestyle issues, attention to quality of life and adequate education. info:eu-repo/semantics/publishedVersion

Idiopathic inflammatory myopathies (IIMs) encompass a heterogeneous group of rare autoimmune diseases characterised by muscle weakness and inflammation, but in antisynthetase syndrome arthritis and interstitial lung disease are more frequent and often inaugurate the disease. Clinical practice guidelines (CPGs) have been proposed for IIMs, but they are sparse and heterogeneous. This work aimed at identifying: i) current available CPGs for IIMs, ii) patients ' and clinicians' unmet needs not covered by CPGs. It has been performed in the framework of the European Reference Network on rare and complex connective tissue and musculoskeletal diseases (ReCONNET), a network of centre of expertise and patients funded by the European Union's Health Programme. Fourteen original CPGs were identified, notably recommending that: i) extra-muscular involvements should be assessed; ii) corticosteroids and methotrexate or azathioprine are first-line therapies of IIMs. ii) IVIG is a treatment of resistant-DM that may be also used in other resistant-IIMs; iii) physical therapy and sun protection (in DM patients) are part of the treatment; v) tumour screening for patients with DM include imaging of chest, abdomen, pelvis and breast (in woman) along with colonoscopy (in patients over 50 years); vi) disease activity and damages should be monitor using standardised and validated tools. Yet, only half of these CPGs were evidence-based. Crucial unmet needs were identified both by patients and clinicians. In particular, there was a lack of large multidisciplinary working group and of patients ' preferences. The following fields were not or inappropriately targeted: diagnosis; management of extra-muscular involvements other than skin; co-morbidities and severe manifestations. info:eu-repo/semantics/publishedVersion

Further funders are not indicated in the document. There is no public supplementary material available for this publication. This deposit is composed by the main article, and it hasn't any supplementary materials associated. Submitted by Pedro Gomes (psgomes@igc.gulbenkian.pt) on 2017-12-07T15:28:40Z No. of bitstreams: 1 Moraes-Fontes_Clin.Case.Rep._ 2017.pdf: 1199144 bytes, checksum: df06434c8031e84a01d7ea0bdc0a9511 (MD5) Made available in DSpace on 2017-12-07T15:28:40Z (GMT). No. of bitstreams: 1 Moraes-Fontes_Clin.Case.Rep._ 2017.pdf: 1199144 bytes, checksum: df06434c8031e84a01d7ea0bdc0a9511 (MD5) Previous issue date: 2017-12-05 This work supported by the Division of Intramural Research, National Institute of Allergy and Infectious Diseases, NIH, USA. info:eu-repo/semantics/publishedVersion

Background Evolution from Undifferentiated Connective Tissue Disease (UCTD) to a defined Autoimmune Disease (AID) remains unexplained and usually occurs in the first 3 to 5 years. Objectives To determine the frequency and predictors of differentiation from UCTD to AID in a selected cohort of patients originally labelled as UCTD within the first 3 years of follow-up. Methods Demographic and clinical features were retrieved: (i) retrospectively, from the AID9s Unit current database in December 2016 (n=195), including Systemic Lupus Erythematosus (SLE), incomplete SLE, Sjogren9s Syndrome (SS), Systemic Sclerosis (SSc), VEDOSS and Mixed Connective Tissue Disease (MCTD); and (ii) from a prospectively UCTD database created in January 2012 (n=48). Inclusion criteria for the latter pertains to ANA positive patients, not fulfilling any of the existing classification criteria for AID and without severe organ involvement [1]. Patients with cutaneous lesions suggestive of lupus, inflammatory myopathies, erosive arthritis, systemic sclerosis and certain auto-antibody profiles were excluded a priori from the definition of UCTD as these are thought to herald defined conditions, as previously defined [2]. Definition of stable UCTD includes patients with at least one clinical manifestation of AID, positive ANA result and disease duration of at least 3 years [3]. Comparisons between stable UCTD and progressing patients were made using Wilcoxon Rank Sum and Chi square tests, p values of Results Each individual patient was analysed for differentiation into AID at yearly intervals. Overall, the main features of the prospective UCTD cohort were arthralgia (79%), rash (31%), arthritis (19%), sicca symptoms (19%), photosensitivity (17%) and Raynaud (13%). Prospective analysis in the UCTD cohort revealed differentiation in 4/48 patients (8.3%): into rheumatoid arthritis (n=2), psoriatic arthritis (n=1) and SLE (n=1). The main difference between stable UCTD and those that progressed to AID was the presence of arthritis (p=0.003). Median age of onset and symptom duration was similar between both groups. Retrospective analysis yielded very few patients presenting as UCTD (n=5/195): 2/106 SLE; 1/13 incomplete SLE; 1/43 SS; 1/19 SSc; 0/7 VEDOSS and 0/7 MCTD with no distinguishing features. Conclusions Very few patients differentiated in the UCTD cohort after 3 years of follow-up and in our retrospectively studied cohort, in accordance to a previous study [4]. Apart from arthritis, there were no other predicting factors for differentiation to AID. UCTD at disease onset seems to be a rare event. References Mosca M, et al. Clin Exp Rheumatol. 1999;17(5):615–20. Mosca M, et al. Lupus. 2008;17(4):278–80. Mosca M, at al. J Autoimmun. 2014;48–49:50–2. Danieli MG, et al. Clin Exp Rheumatol. 1999;17(5):585–91. Disclosure of Interest None declared

Background Nailfold capillaroscopy (NC) is non-invasive and used by clinicians as a diagnostic tool. It allows the distinction between primary and secondary Raynaud Phenomenon (RP), the latter usually associated to autoimmune diseases (AID). Objectives Characterize the utility of NC assessment for diagnosis of AID and to evaluate main differences in NC pattern, according to the presence of RP. Methods NC were performed with a Videocap biomicroscope using well established classification criteria [1]. NC images and reports from all patients evaluated from January 2011 to final December 2016 were retrospectively analysed. Comparisons were made using the Wilcoxon Rank Sum and Chi square tests, p values of Results In the last 6 years, 1100 NC were performed, 159 to man and 941 to women. Mean age was 42 [±19] years. NC requests came from 17 different hospital units. RP was present in 83% of patients (RP+, n=909) of whom 71% (n=641) had a prior diagnosis of AID, most frequently Systemic Sclerosis (SSc) (24%, n=143), Systemic Lupus Erythematosus (SLE) (21%, n=123), Sjogren9s Syndrome (SS) (10%, n=62), Mixed Connective Tissue Disease (MCTD) (9%, n=52) and Antiphospholipid Syndrome (APS) (8%, n=48). NC patterns allowed for the classification of RP+ subjects into primary (3%) and secondary (81%); in 4% of subjects NC findings were abnormal but inconclusive. From secondary RP, scleroderma (37%) and non-scleroderma pattern (62%) were further separated; the former was later classified according to scleroderma-like (15,02%), early (33%), active (38%) and late (15%) scleroderma patterns.29% of RP+ patients did not have AID diagnosed; NC disclosed the diagnosis of SSc (n=24), APS (n=5), SS (n=4), SLE (n=2), MCTD (n=1), overlapping syndrome (n=1) and paraneoplastic syndrome (n=1). In RP- patients, the main diagnosed AID were SLE (20%, n=17), SSc (14%, n=12) and SS (8%, n=7). NC results in RP- subjects were normal (24%) (including 92% of controls), inconclusive (22%) and suggestive of capillaritis (16%). Although RP-, some patients (38%) presented dysmorphic capillaries suggestive of secondary involvement (38%); NC findings in these patients included megacapillaries and microhemorrhages (scleroderma-like (26%), early (41%), active (30%) and late (7%)). Demographic data was similar in both groups. Statistically significantly higher frequencies of AID (p Conclusions NC findings in RP+ were more pathological than in RP-subjects, probably due to pre-existing AID and more frequent positivity. Secondary non scleroderma pattern was more prevalent in RP+ patients. In RP- group, almost a quarter of NC assessments were normal, but capillary abnormalities were also revealed, suggesting this diagnostic approach can help to disclosure microvascular disease, even if RP is absent. NC further disclosed important leads to diagnose SSc, APS and MCTD in our population. References Cutolo M et al. Arthritis and Rheumatism. 2003 Nov; 48(11):3023–3030. Disclosure of Interest None declared

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. Resumo: A embolia pulmonar devido à síndrome de anticorpo antifosfolípido raramente está associada a hipertensão pulmonar crónica tromboembólica, pelo que o seu rastreio não está recomendado pelas normas de orientação clínica atuais. Descreve-se o caso de uma doente jovem com o diagnóstico tardio de hipertensão pulmonar crónica tromboembólica no contexto de síndrome de anticorpo antifosfolípido primário e anticoagulação subterapêutica. A destacar que a sintomatologia cardiopulmonar de grau ligeiro foi incorretamente atribuída a humor depressivo devido à ausência de alterações no exame objetivo e nos meios complementares de diagnóstico, incluindo valores persistentemente normais de pressão sistólica da artéria pulmonar nos ecocardiogramas transtorácicos seriados. O agravamento sintomático progressivo conduziu à confirmação diagnóstica, após realização dos meios complementares de diagnóstico de rastreio, referenciação cirúrgica e realização de endarterectomia pulmonar bilateral com sucesso. Este caso demonstra a necessidade de uma vigilância mais apertada em doentes com síndrome de anticorpo antifosfolípido e embolia pulmonar. Keywords: Antiphospholipid syndrome, Pulmonary embolism, Chronic thromboembolic pulmonary hypertension, Pulmonary endarterectomy, Palavras-chave: Síndrome antifosfolípido, Embolia pulmonar, Hipertensão pulmonar tromboembólica crónica, Hipertensão pulmonar