scholarly journals Mixed connective tissue disease: state of the art on clinical practice guidelines

RMD Open ◽  
2018 ◽  
Vol 4 (Suppl 1) ◽  
pp. e000783 ◽  
Author(s):  
Benjamin Chaigne ◽  
Carlo Alberto Scirè ◽  
Rosaria Talarico ◽  
Tobias Alexander ◽  
Zahir Amoura ◽  
...  
Keyword(s):  
Clinical Practice ◽  
Connective Tissue ◽  
Connective Tissue Disease ◽  
Clinical Practice Guidelines ◽  
Practice Guidelines ◽  
Mixed Connective Tissue Disease ◽  
Musculoskeletal Diseases ◽  
Connective Tissue Diseases ◽  
Reference Network ◽  
Small Nuclear Ribonucleoprotein

Mixed connective tissue disease (MCTD) is a complex overlap disease with features of different autoimmune connective tissue diseases (CTDs) namely systemic sclerosis, poly/dermatomyositis and systemic lupus erythematous in patients with antibodies targeting the U1 small nuclear ribonucleoprotein particle. In this narrative review, we summarise the results of a systematic literature research which was performed as part of the European Reference Network on Rare and Complex Connective Tissue and Musculoskeletal Diseases project, aimed at evaluating existing clinical practice guidelines (CPGs) or recommendations. Since no specific CPGs on MCTD were found, other CPGs developed for other CTDs were taken into consideration in order to discuss what can be applied to MCTD even if designed for other diseases. Three major objectives were proposed for the future development of CPGs: MCTD diagnosis (diagnostic criteria), MCTD initial and follow-up evaluations, MCTD treatment. Early diagnosis, epidemiological data, assessment of burden of disease and QOL aspects are among the unmet needs identified by patients.

scholarly journals Clinical practice guidelines adherence, knowledge and awareness in rare and complex connective tissue diseases across Europe: results from the first ERN ReCONNET survey

RMD Open ◽  
2020 ◽  
Vol 6 (2) ◽  
pp. e001344
Author(s):  
Rosaria Talarico ◽  
Diana Marinello ◽  
Stefano Bombardieri ◽  
Gerd Burmester ◽  
Joao Fonseca ◽  
...  
Keyword(s):  
Clinical Practice ◽  
Connective Tissue ◽  
Clinical Practice Guidelines ◽  
Practice Guidelines ◽  
Healthcare Professionals ◽  
Musculoskeletal Diseases ◽  
Family Members ◽  
Disease Patient ◽  
Connective Tissue Diseases ◽  
Reference Network

IntroductionThe European Reference Network (ERN) ReCONNET is the ERN aimed at improving the management of rare and complex connective tissue and musculoskeletal diseases (rCTDs) across the European Union (EU). In the mission of ERN ReCONNET, clinical practice guidelines (CPGs) play a crucial role, representing a valid tool towards the harmonisation of the management of rCTDs while improving effectiveness and quality of care delivered to patients.MethodsERN ReCONNET developed two surveys to map the adherence to rCTDs CPGs among healthcare providers and to assess the knowledge and awareness of CPGs for their diseases among patients, family members and caregivers.ResultsThe results of the surveys highlighted that healthcare professionals find it useful to apply CPGs in clinical practice (93%), while 62% of them experience difficulties and barriers in the application in their centres. Healthcare professionals also highlighted the need to develop CPGs for all rCTDs and to implement the use of the existing CPGs in clinical practice. On the other hand, patients, families and caregivers are relatively aware of the purpose of CPGs (51%) and 62% of them were aware of the existence of CPGs for their disease. Patient-friendly versions of CPGs and patients’ lifestyle guidelines should be systematically developed contributing to the empowerment of patients in the disease management.ConclusionERN ReCONNET is addressing the main issues identified in the results of the survey, promoting practical actions for the local adaptation of CPGs across Europe, improving their routine clinical use and increasing the awareness on CPGs among rCTDs patients, family members and caregivers.

scholarly journals Undifferentiated connective tissue disease: state of the art on clinical practice guidelines

RMD Open ◽  
2019 ◽  
Vol 4 (Suppl 1) ◽  
pp. e000786 ◽  
Author(s):  
Margarida Antunes ◽  
Carlo Alberto Scirè ◽  
Rosaria Talarico ◽  
Tobias Alexander ◽  
Tadej Avcin ◽  
...  
Keyword(s):  
Clinical Practice ◽  
Connective Tissue ◽  
Connective Tissue Disease ◽  
Clinical Practice Guidelines ◽  
Practice Guidelines ◽  
Connective Tissue Diseases ◽  
Preventive Measure ◽  
Undifferentiated Connective Tissue Disease ◽  
Consensus Definition ◽  
Severe Condition

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.

scholarly journals Ehlers-Danlos syndromes: state of the art on clinical practice guidelines

RMD Open ◽  
2018 ◽  
Vol 4 (Suppl 1) ◽  
pp. e000790 ◽  
Author(s):  
Alberto Sulli ◽  
Rosaria Talarico ◽  
Carlo Alberto Scirè ◽  
Tadej Avcin ◽  
Marco Castori ◽  
...  
Keyword(s):  
Clinical Practice ◽  
Clinical Practice Guidelines ◽  
Practice Guidelines ◽  
Clinical Decision Making ◽  
Unmet Needs ◽  
Musculoskeletal Diseases ◽  
Clinical Decision ◽  
Current Evidence ◽  
Reference Network ◽  
Publication Type

ObjectiveTo report the effort of the European Reference Network for Rare and Complex CONnective tissue and musculoskeletal diseases NETwork working group on Ehlers-Danlos syndromes (EDS) and related disorders to assess current available clinical practice guidelines (CPGs) specifically addressed to EDS, in order to identify potential clinician and patient unmet needs.MethodsSystematic literature search in PUBMED and EMBASE based on controlled terms (MeSH and Emtree) and keywords of the disease and publication type (CPGs). All the published articles were revised in order to identify existing CPGs on diagnosis, monitoring and treatment of EDS.ResultsLiterature revision detected the absence of papers reporting good quality CPGs to optimise EDS patient care. The current evidence-based literature regarding clinical guidelines for the EDS was limited in size and quality, and there is insufficient research exploring the clinical features and interventions, and clinical decision-making are currently based on theoretical and limited research evidences.ConclusionsMany clinician and patient unmet needs have been identified.

scholarly journals Sjögren’s syndrome: state of the art on clinical practice guidelines

RMD Open ◽  
2018 ◽  
Vol 4 (Suppl 1) ◽  
pp. e000789 ◽  
Author(s):  
Vasco C Romão ◽  
Rosaria Talarico ◽  
Carlo Alberto Scirè ◽  
Ana Vieira ◽  
Tobias Alexander ◽  
...  
Keyword(s):  
Clinical Practice ◽  
Connective Tissue ◽  
Clinical Practice Guidelines ◽  
Practice Guidelines ◽  
Sjögren's Syndrome ◽  
State Of The Art ◽  
Musculoskeletal Diseases ◽  
Sjogren’S Syndrome ◽  
Sjogren's Syndrome ◽  
Sjögren‘S Syndrome

Sjögren’s syndrome (SS) is a complex autoimmune rheumatic disease that specifically targets salivary and lachrymal glands. As such, patients typically had ocular and oral dryness and salivary gland swelling. Moreover, skin, nasal and vaginal dryness are frequently present. In addition to dryness, musculoskeletal pain and fatigue are the hallmarks of this disease and constitute the classic symptom triad presented by the vast majority of patients. Up to 30% to 50 % of patients with SS may present systemic disease; moreover, there is an increased risk for the development of non-Hodgkin’s lymphoma that occurs in a minority of patients. The present work was developed in the framework of the European Reference Network (ERN) dedicated to Rare and Complex Connective Tissue and Musculoskeletal Diseases (ReCONNET). In line with its goals of aiming to improve early diagnosis, treatment and care of rare connective and musculoskeletal diseases, ERN-ReCONNET set to review the current state of clinical practice guidelines (CPGs) in the rare and complex connective tissue diseases of interest of the network. Therefore, the present work was aimed at providing a state of the art of CPGs for SS.

scholarly journals Systemic sclerosis: state of the art on clinical practice guidelines

RMD Open ◽  
2018 ◽  
Vol 4 (Suppl 1) ◽  
pp. e000782 ◽  
Author(s):  
Vanessa Smith ◽  
Carlo Alberto Scirè ◽  
Rosaria Talarico ◽  
Paolo Airo ◽  
Tobias Alexander ◽  
...  
Keyword(s):  
Clinical Practice ◽  
Systemic Sclerosis ◽  
Clinical Practice Guidelines ◽  
Practice Guidelines ◽  
Musculoskeletal Diseases ◽  
Reference Network ◽  
High Morbidity ◽  
Internal Organs ◽  
European Reference Network ◽  
Loss Of Self

Systemic sclerosis (SSc) is an orphan disease characterised by autoimmunity, fibrosis of the skin and internal organs, and vasculopathy. SSc may be associated with high morbidity and mortality. In this narrative review we summarise the results of a systematic literature research, which was performed as part of the European Reference Network on Rare and Complex Connective Tissue and Musculoskeletal Diseases project, aimed at evaluating existing clinical practice guidelines or recommendations. Only in the domains ‘Vascular & Ulcers’ (ie, non-pharmacological approach to digital ulcer), ‘PAH’ (ie, screening and treatment), ‘Treatment’ and ‘Juveniles’ (ie, evaluation of juveniles with Raynaud’s phenomenon) evidence-based and consensus-based guidelines could be included. Hence there is a preponderance of unmet needs in SSc referring to the diagnosis and (non-)pharmacological treatment of several SSc-specific complications. Patients with SSc experience significant uncertainty concerning SSc-related taxonomy, management (both pharmacological and non-pharmacological) and education. Day-to-day impact of the disease (loss of self-esteem, fatigue, sexual dysfunction, and occupational, nutritional and relational problems) is underestimated and needs evaluation.

scholarly journals Idiopathic inflammatory myopathies: state of the art on clinical practice guidelines

RMD Open ◽  
2019 ◽  
Vol 4 (Suppl 1) ◽  
pp. e000784 ◽  
Author(s):  
Alain Meyer ◽  
Carlo Alberto Scirè ◽  
Rosaria Talarico ◽  
Tobias Alexander ◽  
Zahir Amoura ◽  
...  
Keyword(s):  
Clinical Practice ◽  
Clinical Practice Guidelines ◽  
Practice Guidelines ◽  
Unmet Needs ◽  
Musculoskeletal Diseases ◽  
Reference Network ◽  
Idiopathic Inflammatory Myopathies ◽  
Inflammatory Myopathies ◽  
European Reference Network ◽  
Multidisciplinary Working

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.

Mixed Connective Tissue Disease- Physician’s Dilemma: A case report

2021 ◽  
Vol 11 (Number 1) ◽  
pp. 60-65
Author(s):  
Abu Saleh Shimon ◽  
Mahjuba Umme Salam ◽  
Monharul Islam Bhuiyan ◽  
Mashuq Ahmad Jumma ◽  
Imran Hussain ◽  
...  
Keyword(s):  
Connective Tissue ◽  
Connective Tissue Disease ◽  
Lupus Erythematosus ◽  
Mixed Connective Tissue Disease ◽  
High Titer ◽  
Connective Tissue Diseases ◽  
Systemic Lupus ◽  
Serological Tests ◽  
Normotensive Woman ◽  
New Onset

Mixed connective tissue disease is an entity of autoimmune disease with overlapping features of systemic lupus erythematosus, scleroderma, rheumatoid arthritis, dermatomyositis and with positive anti-U1 RNP antibody. We report here a 52 year old non-diabetic, normotensive woman presenting with new onset dysphagia for two months with variable features of multiple types of connective tissue diseases for two years. Clinical features and type specific serological tests for different connective tissue diseases showed puzzling results. However, finally a high titer of anti-U1RNP antibody led to the diagnosis of mixed connective tissue disease.

Connective tissue disease

2019 ◽  
pp. 281-326
Author(s):  
Gavin Spickett
Keyword(s):  
Rheumatoid Arthritis ◽  
Connective Tissue ◽  
Connective Tissue Disease ◽  
Mixed Connective Tissue Disease ◽  
Raynaud’S Phenomenon ◽  
Connective Tissue Diseases ◽  
Raynaud's Phenomenon ◽  
Overlap Syndromes

This chapter covers the presentation, immunogenetics, immunopathology, diagnosis, treatment, and testing for a range of connective tissue diseases. It covers a range of rheumatic disorders, from rheumatoid arthritis to Raynaud’s phenomenon, and also covers the undifferentiated diseases, overlap syndromes, and mixed connective tissue disease.

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