The European Reference Networks (ERNs) were launched by the European Commission in 2017 with the mission to improve quality, safety and access to highly specialised and sustainable healthcare to ...European patients with rare, low-prevalence and complex diseases.1 ERN ReCONNET is the European Reference Network on Connective Tissue and Musculoskeletal Diseases and covers 10 musculoskeletal and connective tissue diseases (rCTDs): antiphospholipid syndrome (APS), Ehlers-Danlos syndromes (EDS), idiopathic inflammatory myopathies (IIM), IgG4-related diseases (IgG4), mixed connective tissue diseases (MCTD), relapsing polychondritis (RP), Sjögren’s syndrome (SS), systemic lupus erythematosus (SLE), systemic sclerosis (SSc), and undifferentiated connective tissue diseases (UCTD). ERN ReCONNET currently has 55 Full Members and 9 Affiliated Partners (APs) from over 23 European countries. ERN ReCONNET can be viewed as an infrastructure where all the stakeholders (health care professionals, patients, families, health care systems, hospital managers, private sectors, etc.) meet and work together to achieve common goals. One major objective of ReCONNET is to promote a partnership with patients (patients’ advocates – ePAGs). Since 2017 this objective has been pursued by starting to ensure and promote patients’ representation and their active involvement in all the ERN activities. In fact, the ePAG advocates have been involved in different levels of the network’s governance: the Steering Committee, the respective Disease Groups where they collaborate to plan and implement activities, and more recently in the Working Groups (WG) where they act as co-chairs in three WGs. ePAG representatives provide patients’ opinions and input in the different ERN activities, collaborate in the evaluation of the ERN actions, contribute to research, participate to dissemination activities, and ensure that patient’s rights and choices are considered in decision-making. Thanks to this collaboration, the opinions, needs and priorities of the ePAG advocates and of their communities have been integrated into the activities of ERN ReCONNET. ePAG advocates and patients’ representatives have participated to research activities, co-authored many ReCONNET publications, participated actively as speakers to ERN meetings and in the first ERN ReCONNET congress held in Brussels in 2023, and have disseminated ERN ReCONNET activities at international meetings including EULAR. All these activities are promoting the culture of an effective and solid patient-clinician partnership and are triggering a cultural change in the healthcare ecosystem at international level. European Reference Network on Rare and Complex Connective Tissue and Musculoskeletal Diseases Website. https://reconnet.ern-net.eu . Accessed July 2023. Learning Objectives Explain the value of ERN ReCONNET’s infrastructure in supporting patients, their families and healthcare professionals in working together to achieve common goals Discuss the value of patient representation and their active involvement in all the ERN activities to ensure patients’ rights and choices are considered in clinical decision making.
Health related quality of life (HRQOL) improvement in patients with SLE is defined as one of the treatment goals in the Treat to Target (T2T) recommendations and the 2019 EULAR recommendations for ...the management of SLE.1 2 However, the definitions of remission and low disease activity (LLDAS) do not address the health-related quality of life or disease burden. In fact, the physicians’ view on lupus dominated the development of remission criteria and it was postulated that a control of disease activity would improve QOL in patients with SLE.The relationship between activity, organ damage, and HRQOL, however, remains complex and controversial, and the value of activity and damage indices as predictors of patient quality of life continues to be debated.3 The attainment of remission in SLE represents the main treatment target, but QOL and fatigue are still insufficiently controlled in the state of remission and, despite improvement of disease activity, QOL can remain unchanged over several years.A patient’s perspective is still not accepted as equivalent to the physician’s perspective in treatment decisions. HRQOL is neither directly nor indirectly captured by disease activity instruments. Therefore, a better understanding of the patients’ experiences with the disease is crucial.4Looking at the evidence of patient reported outcomes (PROs) as treatment targets for SLE, it is important to consider that, in clinical trials, the target response is mostly defined by changes in disease activity instruments and physician global assessments, while PROs were never used as the primary endpoint. Studies to integrate the patient’s perspective with the physician’s definition of remission and low disease activity are needed.ReferencesFanouriakis A, et al. 2019 update of the EULAR recommendations for the management of systemic lupus erythematosus. Ann Rheum Dis 2019 Jun;78(6):736–745.Morand EF, Mosca M. Treat to target, remission and low disease activity in SLE. Best Pract Res Clin Rheumatol 2017 Jun;31(3):342–350.Shi Y, Li M, et al. Relationship between disease activity, organ damage and health-related quality of life in patients with systemic lupus erythematosus: a systemic review and meta-analysis. Autoimmun Rev 2021 Jan;20(1):102691.Kernder A, et al. The patient’s perspective: are quality of life and disease burden a possible treatment target in systemic lupus erythematosus? Rheumatology (Oxford) 2020 Dec 5;59(Suppl5):v63-v68.Learning ObjectivesDiscuss quality of life in SLE, its determinants, discordance between physician’s outcomes measures and PROs and the significance of PROs in clinical trials
Our objective was to update the EULAR recommendations for the management of systemic lupus erythematosus (SLE), based on emerging new evidence. We performed a systematic literature review ...(01/2007-12/2017), followed by modified Delphi method, to form questions, elicit expert opinions and reach consensus. Treatment in SLE aims at remission or low disease activity and prevention of flares. Hydroxychloroquine is recommended in all patients with lupus, at a dose not exceeding 5 mg/kg real body weight. During chronic maintenance treatment, glucocorticoids (GC) should be minimised to less than 7.5 mg/day (prednisone equivalent) and, when possible, withdrawn. Appropriate initiation of immunomodulatory agents (methotrexate, azathioprine, mycophenolate) can expedite the tapering/discontinuation of GC. In persistently active or flaring extrarenal disease, add-on belimumab should be considered; rituximab (RTX) may be considered in organ-threatening, refractory disease. Updated specific recommendations are also provided for cutaneous, neuropsychiatric, haematological and renal disease. Patients with SLE should be assessed for their antiphospholipid antibody status, infectious and cardiovascular diseases risk profile and preventative strategies be tailored accordingly. The updated recommendations provide physicians and patients with updated consensus guidance on the management of SLE, combining evidence-base and expert-opinion.
The objective was to develop evidence-based recommendations for the management of antiphospholipid syndrome (APS) in adults. Based on evidence from a systematic literature review and expert opinion, ...overarching principles and recommendations were formulated and voted. High-risk antiphospholipid antibody (aPL) profile is associated with greater risk for thrombotic and obstetric APS. Risk modification includes screening for and management of cardiovascular and venous thrombosis risk factors, patient education about treatment adherence, and lifestyle counselling. Low-dose aspirin (LDA) is recommended for asymptomatic aPL carriers, patients with systemic lupus erythematosus without prior thrombotic or obstetric APS, and non-pregnant women with a history of obstetric APS only, all with high-risk aPL profiles. Patients with APS and first unprovoked venous thrombosis should receive long-term treatment with vitamin K antagonists (VKA) with a target international normalised ratio (INR) of 2-3. In patients with APS with first arterial thrombosis, treatment with VKA with INR 2-3 or INR 3-4 is recommended, considering the individual's bleeding/thrombosis risk. Rivaroxaban should not be used in patients with APS with triple aPL positivity. For patients with recurrent arterial or venous thrombosis despite adequate treatment, addition of LDA, increase of INR target to 3-4 or switch to low molecular weight heparin may be considered. In women with prior obstetric APS, combination treatment with LDA and prophylactic dosage heparin during pregnancy is recommended. In patients with recurrent pregnancy complications, increase of heparin to therapeutic dose, addition of hydroxychloroquine or addition of low-dose prednisolone in the first trimester may be considered. These recommendations aim to guide treatment in adults with APS. High-quality evidence is limited, indicating a need for more research.
Abstract The term undifferentiated connective tissue disease (UCTD) refers to unclassifiable systemic autoimmune diseases which share clinical and serological manifestations with definite connective ...tissue diseases (CTDs) but not fulfilling any of the existing classification criteria. In this review we will go through the more recent evidence on UCTD and we will discuss in what extent the availability of new criteria for the CTDs could interfere with the “UCTD concept”. The development of criteria able to identify early phases of defined CTD, may help in the differentiation of stable UCTD form their early stages and may offer a valuable guide to the treating physician to set up appropriate follow up schedules as well as therapeutic protocols. This simplified subset of CTD could offer a model to study clinic pathological correlations as well as the role of possible environmental factors in the development of autoimmunity.
A few decades ago, the therapy goal of patients with systemic lupus erythematosus (SLE) was survival and the prevention of organ failure. Today, clinical remission and low disease activity are ...believed to be the optimal therapeutic targets. These aims are difficult to reach for many patients, but they still do not address the health-related quality of life (QoL) that is significantly impaired in SLE patients. Even in the state of remission, QoL and fatigue are insufficient controlled. Thus, patient-oriented research is essential to design new strategies for the management of lupus patients. The INTEGRATE project analyses the patients' and physicians' perspectives to pave the way to design an innovative therapeutic strategy for lupus and focuses on the multifaceted dimensions of the disease burden. Shared decision making (SDM) could include the patient's perspective of SLE to treatment strategy and consider QoL and the burden of lupus into the process of therapy decision.
Food is often considered to be a precipitating factor of irritable bowel syndrome (IBS) symptoms. In recent years, there has been a growing interest in FODMAPs (Fermentable Oligo-, Di-, ...Mono-saccharides, And Polyols), which can be found in many common foods. A low FODMAP diet (LFD) is increasingly suggested for IBS treatment. However, long-term, large, randomized controlled studies are still lacking, and certainties and doubts regarding LFDs have grown, often in a disorderly and confused manner. Some potential LFD limitations and concerns have been raised, including nutritional adequacy, cost, and difficulty in teaching the diet and maintaining it. Most of these limitations can be solved with the involvement of a skilled nutritionist, who can clearly explain the different phases of the LFD and ensure nutritional adequacy and compliance. Further studies should focus on new methods of teaching and learning the LFD and on predictors of response. Moreover, particular interest should be focused on the possible use of LFD in gastrointestinal diseases other than functional disorders and, possibly, also in non-gastrointestinal diseases. The aim of the present review was to clarify the effective and appropriate indications and limitations of an LFD and to discuss its possible future uses.
Abstract The term “mixed connective tissue disease” (MCTD) concerns a systemic autoimmune disease typified by overlapping features between two or more systemic autoimmune diseases and the presence of ...antibodies against the U1 small nuclear ribonucleoprotein autoantigen (U1snRNP). Since the first description of this condition in 1972, the understanding of clinical manifestations and long-term outcome of MCTD have significantly advanced. Polyarthritis, Raynaud's phenomenon, puffy fingers, lung involvement and esophageal dysmotility are the most frequently reported symptoms among the different cohorts during the course of the disease. Moreover, in recent years a growing interest has been focused on severe organ involvement such as pulmonary arterial hypertension and interstitial lung disease which can accrue during the long-term follow-up and can still significantly influence disease prognosis. Over the last years, significant advances have been made also in disease pathogenesis understanding and a central pathogenetic role of anti-U1RNP autoantibodies has clearly emerged. Although controversies on disease definition and classification still persist, MCTD identifies a group of patients in whom increased surveillance for specific manifestations and prognostic stratification became mandatory to improve patient's outcomes.
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