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1. An overlook on the current registries for rare and complex connective tissue diseases and the future scenario of TogethERN ReCONNET

Author

Matilde Bandeira, Federica Di Cianni, Diana Marinello, Laurent Arnaud, Sara Cannizzo, Claudio Carta, Alain Cornet, Sara M. Barril, Inita Bulina, Alessandro Ferraris, João Fonseca, Andrea Gaglioti, Marteen Limper, Valentina Lorenzoni, Judith Majnik, Marco Matucci-Cerinic, Ilaria Palla, Simona Rednic, Matthias Schneider, Vanessa Smith, Alberto Sulli, Klaus Søndergaard, Simone Ticciati, Angela Tincani, Giuseppe Turchetti, Rosaria Talarico, Maurizio Cutolo, Marta Mosca, and Domenica Taruscio

Subjects
rare and complex connective tissue diseases, registries, ERN ReCONNET, TogethERN ReCONNET, European Reference Networks, Medicine (General), R5-920
Abstract

BackgroundPatient registries play a crucial role in supporting clinical practice, healthcare planning and medical research, offering a real-world picture on rare and complex connective tissue diseases (rCTDs). ERN ReCONNET launched the first European Registry Infrastructure with the aim to plan, upgrade and link registries for rCTDs, with the final goal to promote a harmonized data collection approach all over Europe for rCTDs.MethodsAn online survey addressed to healthcare professionals and patients' representatives active in the field of rCTDs was integrated by an extensive database search in order to build a mapping of existing registries for rCTDs.FindingsA total of 140 registries were found, 38 of which include multiple diseases. No disease-specific registry was identified for relapsing polychondritis, mixed connective tissue disease and undifferentiated connective tissue disease.DiscussionThis overview on the existing registries for rCTDs provides a useful starting point to identify the gaps and the strengths of registries on the coverage of rCTDs, and to develop a common data set and data collection approach for the establishment of the TogethERN ReCONNET Infrastructure.

Published
2022
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2. Undifferentiated connective tissue disease: State of the art on clinical practice guidelines

Author

Antunes, M, Scire, C, Talarico, R, Alexander, T, Avcin, T, Belocchi, C, Doria, A, Franceschini, F, Galetti, I, Govoni, M, Hachulla, E, Launay, D, Lepri, G, Macieira, C, Matucci-Cerinic, M, Montecucco, C, Moraes-Fontes, M, Mouthon, L, Paolino, S, Ramoni, V, Tani, C, Tas, S, Tincani, A, Van Vollenhoven, R, Zen, M, Fonseca, J, Bombardieri, S, Schneider, M, Smith, V, Cutolo, M, Mosca, M, Beretta, L, Antunes M., Scire C. A., Talarico R., Alexander T., Avcin T., Belocchi C., Doria A., Franceschini F., Galetti I., Govoni M., Hachulla E., Launay D., Lepri G., Macieira C., Matucci-Cerinic M., Montecucco C. M., Moraes-Fontes M. F., Mouthon L., Paolino S., Ramoni V., Tani C., Tas S. W., Tincani A., Van Vollenhoven R., Zen M., Fonseca J., Bombardieri S., Fonseca J. E., Schneider M., Smith V., Cutolo M., Mosca M., Beretta L., Antunes, M, Scire, C, Talarico, R, Alexander, T, Avcin, T, Belocchi, C, Doria, A, Franceschini, F, Galetti, I, Govoni, M, Hachulla, E, Launay, D, Lepri, G, Macieira, C, Matucci-Cerinic, M, Montecucco, C, Moraes-Fontes, M, Mouthon, L, Paolino, S, Ramoni, V, Tani, C, Tas, S, Tincani, A, Van Vollenhoven, R, Zen, M, Fonseca, J, Bombardieri, S, Schneider, M, Smith, V, Cutolo, M, Mosca, M, Beretta, L, Antunes M., Scire C. A., Talarico R., Alexander T., Avcin T., Belocchi C., Doria A., Franceschini F., Galetti I., Govoni M., Hachulla E., Launay D., Lepri G., Macieira C., Matucci-Cerinic M., Montecucco C. M., Moraes-Fontes M. F., Mouthon L., Paolino S., Ramoni V., Tani C., Tas S. W., Tincani A., Van Vollenhoven R., Zen M., Fonseca J., Bombardieri S., Fonseca J. E., Schneider M., Smith V., Cutolo M., Mosca M., and Beretta L.

Abstract

The term a € 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.

Published
2019

3. IgG4-related diseases: State of the art on clinical practice guidelines

Author

Iaccarino, L, Talarico, R, Scire, C, Amoura, Z, Burmester, G, Doria, A, Faiz, K, Frank, C, Hachulla, E, Hie, M, Launay, D, Montecucco, C, Monti, S, Mouthon, L, Tincani, A, Toniati, P, Van Hagen, P, Van Vollenhoven, R, Bombardieri, S, Mueller-Ladner, U, Schneider, M, Smith, V, Cutolo, M, Mosca, M, Alexander, T, Iaccarino L., Talarico R., Scire C. A., Amoura Z., Burmester G., Doria A., Faiz K., Frank C., Hachulla E., Hie M., Launay D., Montecucco C., Monti S., Mouthon L., Tincani A., Toniati P., Van Hagen P. M., Van Vollenhoven R. F., Bombardieri S., Mueller-Ladner U., Schneider M., Smith V., Cutolo M., Mosca M., Alexander T., Iaccarino, L, Talarico, R, Scire, C, Amoura, Z, Burmester, G, Doria, A, Faiz, K, Frank, C, Hachulla, E, Hie, M, Launay, D, Montecucco, C, Monti, S, Mouthon, L, Tincani, A, Toniati, P, Van Hagen, P, Van Vollenhoven, R, Bombardieri, S, Mueller-Ladner, U, Schneider, M, Smith, V, Cutolo, M, Mosca, M, Alexander, T, Iaccarino L., Talarico R., Scire C. A., Amoura Z., Burmester G., Doria A., Faiz K., Frank C., Hachulla E., Hie M., Launay D., Montecucco C., Monti S., Mouthon L., Tincani A., Toniati P., Van Hagen P. M., Van Vollenhoven R. F., Bombardieri S., Mueller-Ladner U., Schneider M., Smith V., Cutolo M., Mosca M., and Alexander T.

Abstract

Immunoglobulin G4-related diseases (IgG4-RD) are a group of chronic relapsing-remitting inflammatory conditions, characterised by tissue infiltration with lymphocytes and IgG4-secreting plasma cells, fibrosis and a usually favourable response to steroids. In this narrative review, we summarise the results of a systematic literature research, which was performed as part of the European Reference Network ReCONNET, aimed at evaluating existing clinical practice guidelines (CPGs) and recommendations in IgG4-RD. From 167 publications initially obtained from a systematic literature search, only one was identified as a systematic multispecialist, evidence-based, consensus guidance statement on diagnosis and treatment of IgG4-RD, which may be recommended for use as CPG in IgG4-RD. With the recognition of a limited evidence based in this increasingly recognised disease, the group discussion has identified the following unmet needs: lack of shared classification criteria, absence of formal guidelines on diagnosis, no evidence-based therapeutic recommendations and lack of activity and damage indices. Areas of unmet needs include the difficulties in diagnosis, management and monitoring and the scarcity of expert centres.

Published
2019

4. IgG4-related diseases: state of the art on clinical practice guidelines

Author

Charissa Frank, Paola Toniati, Gerd R Burmester, Tobias Alexander, Zahir Amoura, Luc Mouthon, Matthias F. Schneider, Andrea Doria, Carlomaurizio Montecucco, Vanessa Smith, Ulf Mueller-Ladner, Angela Tincani, Marta Mosca, Sara Monti, Karim Faiz, Rosaria Talarico, Stefano Bombardieri, Luca Iaccarino, Pieter van Hagen, Ronald F van Vollenhoven, Maurizio Cutolo, Miguel Hie, Carlo Alberto Scirè, Eric Hachulla, David Launay, Iaccarino, L, Talarico, R, Scire, C, Amoura, Z, Burmester, G, Doria, A, Faiz, K, Frank, C, Hachulla, E, Hie, M, Launay, D, Montecucco, C, Monti, S, Mouthon, L, Tincani, A, Toniati, P, Van Hagen, P, Van Vollenhoven, R, Bombardieri, S, Mueller-Ladner, U, Schneider, M, Smith, V, Cutolo, M, Mosca, M, Alexander, T, Immunology, and Internal Medicine

Subjects
medicine.medical_specialty, clinical practice guidelines, ERN reconnet, european reference networks, IgG4-related diseases, unmet needs, Immunology, clinical practice guidelines, ERN reconnet, european reference networks, IgG4-related diseases, unmet needs, Disease, clinical practice guidelines,ERN reconnet, european reference networks, IgG4-related diseases, unmet needs, Unmet needs, NO, Tissue infiltration, 03 medical and health sciences, 0302 clinical medicine, Rheumatology, medicine, Medicine and Health Sciences, Immunology and Allergy, Limited evidence, IgG4-related disease, Intensive care medicine, Connective Tissue Diseases, 030203 arthritis & rheumatology, business.industry, unmet need, Clinical Practice, Group discussion, european reference network, 030211 gastroenterology & hepatology, Narrative review, business, clinical practice guideline, Systematic search
Abstract

Immunoglobulin G4-related diseases (IgG4-RD) are a group of chronic relapsing–remitting inflammatory conditions, characterised by tissue infiltration with lymphocytes and IgG4-secreting plasma cells, fibrosis and a usually favourable response to steroids.In this narrative review, we summarise the results of a systematic literature research, which was performed as part of the European Reference Network ReCONNET, aimed at evaluating existing clinical practice guidelines (CPGs) and recommendations in IgG4-RD. From 167 publications initially obtained from a systematic literature search, only one was identified as a systematic multispecialist, evidence-based, consensus guidance statement on diagnosis and treatment of IgG4-RD, which may be recommended for use as CPG in IgG4-RD.With the recognition of a limited evidence based in this increasingly recognised disease, the group discussion has identified the following unmet needs: lack of shared classification criteria, absence of formal guidelines on diagnosis, no evidence-based therapeutic recommendations and lack of activity and damage indices. Areas of unmet needs include the difficulties in diagnosis, management and monitoring and the scarcity of expert centres.

Published
2019

5. Ehlers-Danlos syndromes: state of the art on clinical practice guidelines

Author

Marta Mosca, Fransiska Malfait, Tadej Avcin, Stefano Bombardieri, Charissa Frank, Vanessa Smith, Sabrina Paolino, Carlo Alberto Scirè, Alessandro Ferraris, Marco Castori, Rosaria Talarico, Jürgen Grunert, Matthias Schneider, Alberto Sulli, Maurizio Cutolo, Sulli, A, Talarico, R, Scire, C, Avcin, T, Castori, M, Ferraris, A, Frank, C, Grunert, J, Paolino, S, Bombardieri, S, Schneider, M, Smith, V, Cutolo, M, Mosca, M, and Malfait, F

Subjects
0301 basic medicine, medicine.medical_specialty, Immunology, Psychological intervention, unmet needs, European Reference Network, Disease, 030105 genetics & heredity, ERN ReCONNET, Ehlers-Danlos syndromes, European Reference Networks, clinical practice guidelines, DIAGNOSIS, FATIGUE, Patient care, CLASSIFICATION, Unmet needs, NO, 03 medical and health sciences, Rheumatology, Medicine and Health Sciences, MANAGEMENT, Immunology and Allergy, Medicine, Intensive care medicine, Connective Tissue Diseases, business.industry, GENERALIZED JOINT HYPERMOBILITY, PAIN, clinical practice guidelines, Ehlers-Danlos syndromes, ERN ReCONNET, European Reference Networks, unmet needs, Ehlers danlos, Clinical Practice, 030104 developmental biology, MANIFESTATIONS, business, Ehlers-Danlos syndrome, clinical practice guideline, Systematic search
Abstract

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.

Published
2018

6. Mixed connective tissue disease: state of the art on clinical practice guidelines

Author

Vanessa Smith, Ronald F van Vollenhoven, Ana M. Rodrigues, Ana Rita Vieira, Benjamin Chaigne, Rosaria Talarico, Thomas Krieg, Tadej Avcin, Andrea Doria, Marta Mosca, Carlo Alberto Scirè, Sander W. Tas, Simona Rednic, Pia Moinzadeh, Tobias Alexander, Vera Guimaraes, João Eurico Fonseca, Lorenzo Beretta, Ilaria Galetti, Stefano Bombardieri, David Launay, Maurizio Cutolo, Ulf Müller-Ladner, Zahir Amoura, Matthias F. Schneider, Gemma Lepri, Rebecca Fischer-Betz, Aurélien Guffroy, Eric Hachulla, and Repositório da Universidade de Lisboa

Subjects
medicine.medical_specialty, Mixed connective tissue disease, HCC DAUTOIM, Immunology, unmet needs, Connective tissue, Disease, RECOMMENDATIONS, Unmet needs, 03 medical and health sciences, 0302 clinical medicine, Rheumatology, european reference networks, Epidemiology, European reference networks, Medicine and Health Sciences, medicine, Immunology and Allergy, 030212 general & internal medicine, Intensive care medicine, Connective Tissue Diseases, 030203 arthritis & rheumatology, business.industry, Systemic lupus, ERN reconnet, Dermatomyositis, AGREE II, medicine.disease, Clinical Practice, clinical practice guidelines, ERN reconnet, european reference networks, mixed connective tissue disease, unmet needs, medicine.anatomical_structure, ANTIBODY, mixed connective tissue disease, business, Clinical practice guidelines, clinical practice guidelines
Abstract

© 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., 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., This publication was funded by the European Union’s Health Programme (2014-2020)

Published
2018

7. Systemic sclerosis: State of the art on clinical practice guidelines

Author

Smith, V. (Vanessa), Scirè, C.A. (Carlo Alberto), Talarico, R. (Rosaria), Airo, P. (Paolo), Alexander, T. (Tobias), Allanore, Y. (Yannick), Bruni, C. (Cosimo), Codullo, V. (Veronica), Dalm, V.A.S.H. (Virgil), Vries-Bouwstra, J.K. (Jeska) de, Della Rossa, A. (Alessandra), Distler, O. (Oliver), Galetti, I. (Ilaria), Launay, D. (David), Lepri, G. (Gemma), Mathian, A. (Alexis), Mouthon, L. (Luc), Ruaro, B. (Barbara), Sulli, A. (Alberto), Tincani, A. (Angela), Vandecasteele, E. (Els), Vanhaecke, A. (Amber), Vanthuyne, M. (Marie), Hoogen, F.H.J. van den, Van Vollenhoven, R.F. (Ronald F.), Voskuyl, R.A. (Robert), Zanatta, E. (Elisabetta), Bombardieri, S. (Stefano), Burmester, G.R. (Gerd), Eurico, F.J. (Fonseca João), Frank, C. (Charissa), Hachulla, E. (Eric), Houssiau, F. (Frederic), Mueller-Ladner, U. (Ulf), Schneider, M. (Matthias), Van Laar, J.M. (Jacob M), Vieira, A. (Ana), Cutolo, M. (Maurizio), Mosca, M. (Marta), Matucci-Cerinic, M. (Marco), Smith, V. (Vanessa), Scirè, C.A. (Carlo Alberto), Talarico, R. (Rosaria), Airo, P. (Paolo), Alexander, T. (Tobias), Allanore, Y. (Yannick), Bruni, C. (Cosimo), Codullo, V. (Veronica), Dalm, V.A.S.H. (Virgil), Vries-Bouwstra, J.K. (Jeska) de, Della Rossa, A. (Alessandra), Distler, O. (Oliver), Galetti, I. (Ilaria), Launay, D. (David), Lepri, G. (Gemma), Mathian, A. (Alexis), Mouthon, L. (Luc), Ruaro, B. (Barbara), Sulli, A. (Alberto), Tincani, A. (Angela), Vandecasteele, E. (Els), Vanhaecke, A. (Amber), Vanthuyne, M. (Marie), Hoogen, F.H.J. van den, Van Vollenhoven, R.F. (Ronald F.), Voskuyl, R.A. (Robert), Zanatta, E. (Elisabetta), Bombardieri, S. (Stefano), Burmester, G.R. (Gerd), Eurico, F.J. (Fonseca João), Frank, C. (Charissa), Hachulla, E. (Eric), Houssiau, F. (Frederic), Mueller-Ladner, U. (Ulf), Schneider, M. (Matthias), Van Laar, J.M. (Jacob M), Vieira, A. (Ana), Cutolo, M. (Maurizio), Mosca, M. (Marta), and Matucci-Cerinic, M. (Marco)

Abstract

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 nonpharmacological) 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.

Published
2018
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8. Sjögren's syndrome: State of the art on clinical practice guidelines

Author

Romão, V.C. (Vasco C.), Talarico, R. (Rosaria), Scirè, C.A. (Carlo Alberto), Vieira, A. (Ana), Alexander, T. (Tobias), Baldini, C. (Chiara), Gottenberg, J.-E. (Jacques-Eric), Gruner, H. (Heidi), Hachulla, E. (Eric), Mouthon, L. (Luc), Orlandi, M. (Martina), Pamfil, C. (Cristina), Pineton De Chambrun, M. (Marc), Taglietti, M. (Marco), Toplak, N. (Natasa), Daele, P.L.A. (Paul) van, Van Laar, J.M. (Jacob M), Bombardieri, S. (Stefano), Schneider, M. (Matthias), Smith, V. (Vanessa), Cutolo, M. (Maurizio), Mosca, M. (Marta), Mariette, X. (Xavier), Romão, V.C. (Vasco C.), Talarico, R. (Rosaria), Scirè, C.A. (Carlo Alberto), Vieira, A. (Ana), Alexander, T. (Tobias), Baldini, C. (Chiara), Gottenberg, J.-E. (Jacques-Eric), Gruner, H. (Heidi), Hachulla, E. (Eric), Mouthon, L. (Luc), Orlandi, M. (Martina), Pamfil, C. (Cristina), Pineton De Chambrun, M. (Marc), Taglietti, M. (Marco), Toplak, N. (Natasa), Daele, P.L.A. (Paul) van, Van Laar, J.M. (Jacob M), Bombardieri, S. (Stefano), Schneider, M. (Matthias), Smith, V. (Vanessa), Cutolo, M. (Maurizio), Mosca, M. (Marta), and Mariette, X. (Xavier)

Abstract

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.

Published
2018
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9. Antiphospholipid syndrome: State of the art on clinical practice guidelines

Author

Limper, M, Scire, C, Talarico, R, Amoura, Z, Avcin, T, Basile, M, Burmester, G, Carli, L, Cervera, R, Costedoat-Chalumeau, N, Doria, A, Dorner, T, Fonseca, J, Galetti, I, Hachulla, E, Launay, D, Lourenco, F, Macieira, C, Meroni, P, Montecucco, C, Moraes-Fontes, M, Mouthon, L, Nalli, C, Ramoni, V, Tektonidou, M, Van Laar, J, Bombardieri, S, Schneider, M, Smith, V, Vieira, A, Cutolo, M, Mosca, M, Tincani, A, Limper M., Scire C. A., Talarico R., Amoura Z., Avcin T., Basile M., Burmester G., Carli L., Cervera R., Costedoat-Chalumeau N., Doria A., Dorner T., Fonseca J. E., Galetti I., Hachulla E., Launay D., Lourenco F., Macieira C., Meroni P., Montecucco C. M., Moraes-Fontes M. F., Mouthon L., Nalli C., Ramoni V., Tektonidou M., Van Laar J. M., Bombardieri S., Schneider M., Smith V., Vieira A., Cutolo M., Mosca M., Tincani A., Limper, M, Scire, C, Talarico, R, Amoura, Z, Avcin, T, Basile, M, Burmester, G, Carli, L, Cervera, R, Costedoat-Chalumeau, N, Doria, A, Dorner, T, Fonseca, J, Galetti, I, Hachulla, E, Launay, D, Lourenco, F, Macieira, C, Meroni, P, Montecucco, C, Moraes-Fontes, M, Mouthon, L, Nalli, C, Ramoni, V, Tektonidou, M, Van Laar, J, Bombardieri, S, Schneider, M, Smith, V, Vieira, A, Cutolo, M, Mosca, M, Tincani, A, Limper M., Scire C. A., Talarico R., Amoura Z., Avcin T., Basile M., Burmester G., Carli L., Cervera R., Costedoat-Chalumeau N., Doria A., Dorner T., Fonseca J. E., Galetti I., Hachulla E., Launay D., Lourenco F., Macieira C., Meroni P., Montecucco C. M., Moraes-Fontes M. F., Mouthon L., Nalli C., Ramoni V., Tektonidou M., Van Laar J. M., Bombardieri S., Schneider M., Smith V., Vieira A., Cutolo M., Mosca M., and Tincani A.

Abstract

Antiphospholipid syndrome (APS) is a rare disease characterised by venous and/or arterial thrombosis, pregnancy complications and the presence of specific autoantibodies called antiphospholipid antibodies. This review aims to identify existing clinical practice guidelines (CPG) as part of the ERN ReCONNET project, aimed at evaluating existing CPGs or recommendations in rare and complex diseases. Seventeen papers providing important data were identified; however, the literature search highlighted the scarceness of reliable clinical data to develop CPGs. With no formal clinical guidelines in place, diagnosis and treatment of APS is largely based on consensus and expert opinion. Patients' unmet need refers to the understanding of the disease and its clinical picture and implications, the need of education for patients, family members and healthcare providers, as well as to the development of monitoring pathways involving multiple healthcare providers.

Published
2018

10. Systemic sclerosis: State of the art on clinical practice guidelines

Author

Smith, V, Scire, C, Talarico, R, Airo, P, Alexander, T, Allanore, Y, Bruni, C, Codullo, V, Dalm, V, De Vries-Bouwstra, J, Della Rossa, A, Distler, O, Galetti, I, Launay, D, Lepri, G, Mathian, A, Mouthon, L, Ruaro, B, Sulli, A, Tincani, A, Vandecasteele, E, Vanhaecke, A, Vanthuyne, M, Van Den Hoogen, F, Van Vollenhoven, R, Voskuyl, A, Zanatta, E, Bombardieri, S, Burmester, G, Eurico, F, Frank, C, Hachulla, E, Houssiau, F, Mueller-Ladner, U, Schneider, M, Van Laar, J, Vieira, A, Cutolo, M, Mosca, M, Matucci-Cerinic, M, Smith V., Scire C. A., Talarico R., Airo P., Alexander T., Allanore Y., Bruni C., Codullo V., Dalm V., De Vries-Bouwstra J., Della Rossa A., Distler O., Galetti I., Launay D., Lepri G., Mathian A., Mouthon L., Ruaro B., Sulli A., Tincani A., Vandecasteele E., Vanhaecke A., Vanthuyne M., Van Den Hoogen F., Van Vollenhoven R., Voskuyl A. E., Zanatta E., Bombardieri S., Burmester G., Eurico F. J., Frank C., Hachulla E., Houssiau F., Mueller-Ladner U., Schneider M., Van Laar J. M., Vieira A., Cutolo M., Mosca M., Matucci-Cerinic M., Smith, V, Scire, C, Talarico, R, Airo, P, Alexander, T, Allanore, Y, Bruni, C, Codullo, V, Dalm, V, De Vries-Bouwstra, J, Della Rossa, A, Distler, O, Galetti, I, Launay, D, Lepri, G, Mathian, A, Mouthon, L, Ruaro, B, Sulli, A, Tincani, A, Vandecasteele, E, Vanhaecke, A, Vanthuyne, M, Van Den Hoogen, F, Van Vollenhoven, R, Voskuyl, A, Zanatta, E, Bombardieri, S, Burmester, G, Eurico, F, Frank, C, Hachulla, E, Houssiau, F, Mueller-Ladner, U, Schneider, M, Van Laar, J, Vieira, A, Cutolo, M, Mosca, M, Matucci-Cerinic, M, Smith V., Scire C. A., Talarico R., Airo P., Alexander T., Allanore Y., Bruni C., Codullo V., Dalm V., De Vries-Bouwstra J., Della Rossa A., Distler O., Galetti I., Launay D., Lepri G., Mathian A., Mouthon L., Ruaro B., Sulli A., Tincani A., Vandecasteele E., Vanhaecke A., Vanthuyne M., Van Den Hoogen F., Van Vollenhoven R., Voskuyl A. E., Zanatta E., Bombardieri S., Burmester G., Eurico F. J., Frank C., Hachulla E., Houssiau F., Mueller-Ladner U., Schneider M., Van Laar J. M., Vieira A., Cutolo M., Mosca M., and Matucci-Cerinic M.

Abstract

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 nonpharmacological) 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.

Published
2018

11. Sjögren's syndrome: State of the art on clinical practice guidelines

Author

Romao, V, Talarico, R, Scire, C, Vieira, A, Alexander, T, Baldini, C, Gottenberg, J, Gruner, H, Hachulla, E, Mouthon, L, Orlandi, M, Pamfil, C, Pineton De Chambrun, M, Taglietti, M, Toplak, N, Van Daele, P, Van Laar, J, Bombardieri, S, Schneider, M, Smith, V, Cutolo, M, Mosca, M, Mariette, X, Romao V. C., Talarico R., Scire C. A., Vieira A., Alexander T., Baldini C., Gottenberg J. -E., Gruner H., Hachulla E., Mouthon L., Orlandi M., Pamfil C., Pineton De Chambrun M., Taglietti M., Toplak N., Van Daele P., Van Laar J. M., Bombardieri S., Schneider M., Smith V., Cutolo M., Mosca M., Mariette X., Romao, V, Talarico, R, Scire, C, Vieira, A, Alexander, T, Baldini, C, Gottenberg, J, Gruner, H, Hachulla, E, Mouthon, L, Orlandi, M, Pamfil, C, Pineton De Chambrun, M, Taglietti, M, Toplak, N, Van Daele, P, Van Laar, J, Bombardieri, S, Schneider, M, Smith, V, Cutolo, M, Mosca, M, Mariette, X, Romao V. C., Talarico R., Scire C. A., Vieira A., Alexander T., Baldini C., Gottenberg J. -E., Gruner H., Hachulla E., Mouthon L., Orlandi M., Pamfil C., Pineton De Chambrun M., Taglietti M., Toplak N., Van Daele P., Van Laar J. M., Bombardieri S., Schneider M., Smith V., Cutolo M., Mosca M., and Mariette X.

Abstract

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.

Published
2018

12. Ehlers-Danlos syndromes: State of the art on clinical practice guidelines

Author

Sulli, A, Talarico, R, Scire, C, Avcin, T, Castori, M, Ferraris, A, Frank, C, Grunert, J, Paolino, S, Bombardieri, S, Schneider, M, Smith, V, Cutolo, M, Mosca, M, Malfait, F, Sulli A., Talarico R., Scire C. A., Avcin T., Castori M., Ferraris A., Frank C., Grunert J., Paolino S., Bombardieri S., Schneider M., Smith V., Cutolo M., Mosca M., Malfait F., Sulli, A, Talarico, R, Scire, C, Avcin, T, Castori, M, Ferraris, A, Frank, C, Grunert, J, Paolino, S, Bombardieri, S, Schneider, M, Smith, V, Cutolo, M, Mosca, M, Malfait, F, Sulli A., Talarico R., Scire C. A., Avcin T., Castori M., Ferraris A., Frank C., Grunert J., Paolino S., Bombardieri S., Schneider M., Smith V., Cutolo M., Mosca M., and Malfait F.

Abstract

Objective To 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. Methods Systematic 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. Results Literature 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. Conclusions Many clinician and patient unmet needs have been identified.

Published
2018

13. Systemic sclerosis: state of the art on clinical practice guidelines

Author

Jeska K de Vries-Bouwstra, Jacob M van Laar, Ronald F van Vollenhoven, Els Vandecasteele, Alexandre E. Voskuyl, Charissa Frank, Tobias Alexander, Gemma Lepri, Fonseca João Eurico, Eric Hachulla, Angela Tincani, Alexis Mathian, Elisabetta Zanatta, Veronica Codullo, Alberto Sulli, Luc Mouthon, Marco Matucci-Cerinic, Vanessa Smith, Amber Vanhaecke, Gerd R Burmester, Marie Vanthuyne, Frank J. A. van den Hoogen, D. Launay, Matthias Schneider, Maurizio Cutolo, Rosaria Talarico, Yannick Allanore, Ilaria Galetti, Frédéric Houssiau, Virgil A. S. H. Dalm, Alessandra Della Rossa, Cosimo Bruni, Carlo Alberto Scirè, Ulf Mueller-Ladner, Oliver Distler, Stefano Bombardieri, Paolo Airò, Barbara Ruaro, Marta Mosca, Ana Rita Vieira, Immunology, Internal Medicine, Smith, V, Scire, C, Talarico, R, Airo, P, Alexander, T, Allanore, Y, Bruni, C, Codullo, V, Dalm, V, De Vries-Bouwstra, J, Della Rossa, A, Distler, O, Galetti, I, Launay, D, Lepri, G, Mathian, A, Mouthon, L, Ruaro, B, Sulli, A, Tincani, A, Vandecasteele, E, Vanhaecke, A, Vanthuyne, M, Van Den Hoogen, F, Van Vollenhoven, R, Voskuyl, A, Zanatta, E, Bombardieri, S, Burmester, G, Eurico, F, Frank, C, Hachulla, E, Houssiau, F, Mueller-Ladner, U, Schneider, M, Van Laar, J, Vieira, A, Cutolo, M, Mosca, M, Matucci-Cerinic, M, Scirè, Ca, Van den Hoogen, F, Voskuyl, Ae, Eurico, Fj, van Laar, Jm, and Matucci-Cerinic, M.

Subjects
ERN ReCONNET, European reference networks, clinical practice guidelines, nailfold videocapillaroscopy, systemic sclerosis, unmet needs, European reference network, Disease, INTERSTITIAL LUNG-DISEASE, RECOMMENDATIONS, DEVELOPING CRITERIA, PRACTICE PATHWAY, High morbidity, 0302 clinical medicine, Fibrosis, Medicine and Health Sciences, EXPERT CONSENSUS, Immunology and Allergy, 030212 general & internal medicine, skin and connective tissue diseases, integumentary system, Interstitial lung disease, unmet need, Clinical Practice, medicine.symptom, systemic sclerosi, clinical practice guideline, medicine.medical_specialty, Immunology, Systemic Sclerosis, NO, Pharmacological treatment, Unmet needs, 03 medical and health sciences, Rheumatology, medicine, SIMPLE CAPILLAROSCOPIC DEFINITIONS, Intensive care medicine, 030203 arthritis & rheumatology, business.industry, STEM-CELL TRANSPLANTATION, medicine.disease, Sexual dysfunction, SKIN ULCERS, FUNCTIONAL DISABILITY, clinical practice guidelines, ERN ReCONNET, European reference networks, nailfold videocapillaroscopy, systemic sclerosis, unmet needs, POINTS, business
Abstract

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.

Published
2018

14. Clinical practice guidelines: the first year of activity of the European Reference Network on Rare and Complex Connective Tissue and Musculoskeletal Diseases (ERN ReCONNET)

Author

Marta Mosca and Maurizio Cutolo

Subjects
medicine.medical_specialty, Immunology, unmet needs, Unmet needs, 03 medical and health sciences, 0302 clinical medicine, Rheumatology, european reference networks, Health care, medicine, Immunology and Allergy, media_common.cataloged_instance, European commission, european commission, 030212 general & internal medicine, ERN ReCONNET, European union, Connective Tissue Diseases, clinical practice guidelines, ERN ReCONNET, european commission, european reference networks, rare connective tissue diseases, unmet needs, media_common, 030203 arthritis & rheumatology, business.industry, Network on, Subject (documents), Clinical Practice, rare connective tissue diseases, Family medicine, business, Healthcare providers, clinical practice guidelines
Abstract

Key messages #### What is already known about this subject? #### What does this study add? #### How might this impact on clinical practice? An impressive number of almost 5000–8000 rare diseases affect the daily lives of around 30 million people in the European Union (EU) and many of those affected by a rare or complex condition do not have access to diagnosis and high-quality treatment. European Reference Networks (ERNs) are virtual networks involving healthcare providers (HCPs) across Europe with the aim to tackle complex or rare diseases and conditions that require highly specialised treatment and a concentration of knowledge and resources. ERNs offer the potential to give patients and doctors across the EU access to the best expertise and timely exchange of life-saving knowledge, making knowledge travel more than patients.1 Following the first call for proposals in July 2016, the first ERNs were approved in December 2016 and launched in March 2017 in Vilnius during the 3rd conference on ERNs, where their kick off meetings took place. At their inception, the networks comprised more than 900 highly specialised healthcare units located in 313 hospitals in 26 EU countries.2 From …

Published
2018

15. Sjogren's syndrome: state of the art on clinical practice guidelines

Author

Stefano Bombardieri, Nataša Toplak, Paul L A van Daele, Ana Vieira, Vanessa Smith, Marta Mosca, Heidi Gruner, Martina Orlandi, Jacques-Eric Gottenberg, Rosaria Talarico, Marco Taglietti, Eric Hachulla, Jacob M van Laar, Matthias Schneider, Carlo Alberto Scirè, Tobias Alexander, Cristina Pamfil, Maurizio Cutolo, Luc Mouthon, Vasco C. Romão, Marc Pineton de Chambrun, Xavier Mariette, Chiara Baldini, Immunology, Internal Medicine, Centro Hospitalar Universitário Lisboa Norte [Lisbon, Portugal] (CHULN), Azienda Ospedaliero-Universitaria Pisana [Pisa, Italy], Università degli Studi di Ferrara = University of Ferrara (UniFE), Liga Portuguesa Contra as Doenças Reumaticas (LPCDR), Charité - UniversitätsMedizin = Charité - University Hospital [Berlin], University of Pisa - Università di Pisa, Immuno-Rhumatologie Moléculaire, Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM), Les Hôpitaux Universitaires de Strasbourg (HUS), Centro Hospitalar de Lisboa Central E.P.E, Institute for Translational Research in Inflammation - U 1286 (INFINITE (Ex-Liric)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), CHU Lille, Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université Paris Descartes - Paris 5 (UPD5), Università degli Studi di Firenze = University of Florence (UniFI), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Sorbonne Université (SU), Azienda Socio Sanitaria Territoriale Spedali Civili di Brescia [Brescia], University Medical Centre Ljubljana [Ljubljana, Slovenia] (UMCL), Erasmus University Medical Center [Rotterdam] (Erasmus MC), Utrecht University [Utrecht], University Hospital Düsseldorf, Ghent University Hospital, Università degli studi di Genova = University of Genoa (UniGe), Immunologie des Maladies Virales et Autoimmunes (IMVA - U1184), Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpitaux Universitaires Paris Sud [AP-HP] (HUPS), Romao, V, Talarico, R, Scire, C, Vieira, A, Alexander, T, Baldini, C, Gottenberg, J, Gruner, H, Hachulla, E, Mouthon, L, Orlandi, M, Pamfil, C, Pineton De Chambrun, M, Taglietti, M, Toplak, N, Van Daele, P, Van Laar, J, Bombardieri, S, Schneider, M, Smith, V, Cutolo, M, Mosca, M, and Mariette, X

Subjects
0301 basic medicine, Systemic disease, [SDV]Life Sciences [q-bio], Sjögren's Syndrome, ERN ReCONNET, European Reference Networks, Sjögren’s syndrome, clinical practice guidelines, unmet needs, Disease, RECOMMENDATIONS, 0302 clinical medicine, Medicine and Health Sciences, Immunology and Allergy, CLASSIFICATION CRITERIA, DATA-DRIVEN, clinical practice guidelines, ERN ReCONNET, European Reference Networks, Sjögren's syndrome, unmet needs, unmet need, Clinical Practice, medicine.anatomical_structure, TRIALS, Sjögren's syndrome, clinical practice guideline, medicine.medical_specialty, Immunology, Connective tissue, European Reference Network, AMERICAN-COLLEGE, NO, 03 medical and health sciences, Rheumatology, Salivary gland swelling, medicine, MANAGEMENT, DAMAGE INDEX, 030203 arthritis & rheumatology, Sjögren Syndrome, business.industry, HCC MED, medicine.disease, Dermatology, Lymphoma, 030104 developmental biology, Increased risk, Sjogren s, business, CONSENSUS
Abstract

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. info:eu-repo/semantics/publishedVersion

Published
2018
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16. Undifferentiated connective tissue disease: state of the art on clinical practice guidelines

Author

Vanessa Smith, Marta Mosca, Eric Hachulla, Lorenzo Beretta, Margherita Zen, Ilaria Galetti, Marco Matucci-Cerinic, Gemma Lepri, Marcello Govoni, Maria Francisca Moraes-Fontes, Véronique Ramoni, Carlo Alberto Scirè, Sabrina Paolino, Angela Tincani, Maurizio Cutolo, Carlomaurizio Montecucco, Ronald F van Vollenhoven, Tadej Avcin, Chiara Belocchi, Franco Franceschini, Matthias Schneider, Stefano Bombardieri, Joao Fonseca, Margarida Antunes, Sander W. Tas, Luc Mouthon, Chiara Tani, Rosaria Talarico, Tobias Alexander, Andrea Doria, David Launay, Carla Macieira, João Eurico Fonseca, Antunes, M, Scire, C, Talarico, R, Alexander, T, Avcin, T, Belocchi, C, Doria, A, Franceschini, F, Galetti, I, Govoni, M, Hachulla, E, Launay, D, Lepri, G, Macieira, C, Matucci-Cerinic, M, Montecucco, C, Moraes-Fontes, M, Mouthon, L, Paolino, S, Ramoni, V, Tani, C, Tas, S, Tincani, A, Van Vollenhoven, R, Zen, M, Fonseca, J, Bombardieri, S, Schneider, M, Smith, V, Cutolo, M, Mosca, M, Beretta, L, and Repositório da Universidade de Lisboa

Subjects
HCC DAUTOIM, Disease, clinical practice guidelines, ern reconnet, european reference networks, undifferentiated connective tissue diseases, unmet needs, Rheumatology, Immunology and Allergy, Immunology, 0302 clinical medicine, RHEUMATOLOGY/EUROPEAN LEAGUE, Ern reconnet, Medicine and Health Sciences, clinical practice guidelines, ern reconnet, european reference networks, undifferentiated connective tissue diseases, unmet needs, CLASSIFICATION CRITERIA, Undifferentiated connective tissue disease, Connective Tissue Diseases, 0303 health sciences, Undifferentiated connective tissue diseases, unmet need, Clinical Practice, medicine.anatomical_structure, european reference network, Narrative review, Clinical practice guidelines, clinical practice guideline, medicine.medical_specialty, undifferentiated connective tissue disease, Connective tissue, AMERICAN-COLLEGE, Unmet needs, NO, 03 medical and health sciences, Intervention (counseling), European reference networks, medicine, Intensive care medicine, 030304 developmental biology, 030203 arthritis & rheumatology, business.industry, Biology and Life Sciences, medicine.disease, Literature research, business, UCTD
Abstract

© 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).

Published
2018

17. Undifferentiated connective tissue disease: state of the art on clinical practice guidelines.

Author

Antunes M, Scirè CA, Talarico R, Alexander T, Avcin T, Belocchi C, Doria A, Franceschini F, Galetti I, Govoni M, Hachulla E, Launay D, Lepri G, Macieira C, Matucci-Cerinic M, Montecucco CM, Moraes-Fontes MF, Mouthon L, Paolino S, Ramoni V, Tani C, Tas SW, Tincani A, Van Vollenhoven R, Zen M, Fonseca J, Bombardieri S, Fonseca JE, Schneider M, Smith V, Cutolo M, Mosca M, and Beretta L

Abstract

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., Competing Interests: Competing interests: None declared.

Published
2019
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18. IgG4-related diseases: state of the art on clinical practice guidelines.

Author

Iaccarino L, Talarico R, Scirè CA, Amoura Z, Burmester G, Doria A, Faiz K, Frank C, Hachulla E, Hie M, Launay D, Montecucco C, Monti S, Mouthon L, Tincani A, Toniati P, Van Hagen PM, Van Vollenhoven RF, Bombardieri S, Mueller-Ladner U, Schneider M, Smith V, Cutolo M, Mosca M, and Alexander T

Abstract

Immunoglobulin G4-related diseases (IgG4-RD) are a group of chronic relapsing-remitting inflammatory conditions, characterised by tissue infiltration with lymphocytes and IgG4-secreting plasma cells, fibrosis and a usually favourable response to steroids. In this narrative review, we summarise the results of a systematic literature research, which was performed as part of the European Reference Network ReCONNET, aimed at evaluating existing clinical practice guidelines (CPGs) and recommendations in IgG4-RD. From 167 publications initially obtained from a systematic literature search, only one was identified as a systematic multispecialist, evidence-based, consensus guidance statement on diagnosis and treatment of IgG4-RD, which may be recommended for use as CPG in IgG4-RD. With the recognition of a limited evidence based in this increasingly recognised disease, the group discussion has identified the following unmet needs: lack of shared classification criteria, absence of formal guidelines on diagnosis, no evidence-based therapeutic recommendations and lack of activity and damage indices. Areas of unmet needs include the difficulties in diagnosis, management and monitoring and the scarcity of expert centres., Competing Interests: Competing interests: None declared.

Published
2019
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19. Ehlers-Danlos syndromes: state of the art on clinical practice guidelines.

Author

Sulli A, Talarico R, Scirè CA, Avcin T, Castori M, Ferraris A, Frank C, Grunert J, Paolino S, Bombardieri S, Schneider M, Smith V, Cutolo M, Mosca M, and Malfait F

Abstract

Objective: To 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., Methods: Systematic 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., Results: Literature 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., Conclusions: Many clinician and patient unmet needs have been identified., Competing Interests: Competing interests: None declared

Published
2018
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20. Antiphospholipid syndrome: state of the art on clinical practice guidelines.

Author

Limper M, Scirè CA, Talarico R, Amoura Z, Avcin T, Basile M, Burmester G, Carli L, Cervera R, Costedoat-Chalumeau N, Doria A, Dörner T, Fonseca JE, Galetti I, Hachulla E, Launay D, Lourenco F, Macieira C, Meroni P, Montecucco CM, Moraes-Fontes MF, Mouthon L, Nalli C, Ramoni V, Tektonidou M, van Laar JM, Bombardieri S, Schneider M, Smith V, Vieira A, Cutolo M, Mosca M, and Tincani A

Abstract

Antiphospholipid syndrome (APS) is a rare disease characterised by venous and/or arterial thrombosis, pregnancy complications and the presence of specific autoantibodies called antiphospholipid antibodies. This review aims to identify existing clinical practice guidelines (CPG) as part of the ERN ReCONNET project, aimed at evaluating existing CPGs or recommendations in rare and complex diseases. Seventeen papers providing important data were identified; however, the literature search highlighted the scarceness of reliable clinical data to develop CPGs. With no formal clinical guidelines in place, diagnosis and treatment of APS is largely based on consensus and expert opinion. Patients' unmet need refers to the understanding of the disease and its clinical picture and implications, the need of education for patients, family members and healthcare providers, as well as to the development of monitoring pathways involving multiple healthcare providers., Competing Interests: Competing interests: None declared.

Published
2018
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21. Mixed connective tissue disease: state of the art on clinical practice guidelines.

Author

Chaigne B, Scirè CA, Talarico R, Alexander T, Amoura Z, Avcin T, Beretta L, Doria A, Guffroy A, Guimarães V, Hachulla É, Krieg T, Launay D, Lepri G, Moinzadeh P, Müller-Ladner U, Rednic S, Rodrigues A, Tas SW, van Vollenhoven RF, Vieira A, Bombardieri S, Fonseca JE, Galetti I, Schneider M, Smith V, Cutolo M, Mosca M, and Fischer-Betz R

Abstract

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., Competing Interests: Competing interests: None declared.

Published
2018
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22. Sjögren's syndrome: state of the art on clinical practice guidelines.

Author

Romão VC, Talarico R, Scirè CA, Vieira A, Alexander T, Baldini C, Gottenberg JE, Gruner H, Hachulla E, Mouthon L, Orlandi M, Pamfil C, Pineton de Chambrun M, Taglietti M, Toplak N, van Daele P, van Laar JM, Bombardieri S, Schneider M, Smith V, Cutolo M, Mosca M, and Mariette X

Abstract

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., Competing Interests: Competing interests: None declared.

Published
2018
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23. Systemic sclerosis: state of the art on clinical practice guidelines.

Author

Smith V, Scirè CA, Talarico R, Airo P, Alexander T, Allanore Y, Bruni C, Codullo V, Dalm V, De Vries-Bouwstra J, Della Rossa A, Distler O, Galetti I, Launay D, Lepri G, Mathian A, Mouthon L, Ruaro B, Sulli A, Tincani A, Vandecasteele E, Vanhaecke A, Vanthuyne M, Van den Hoogen F, Van Vollenhoven R, Voskuyl AE, Zanatta E, Bombardieri S, Burmester G, Eurico FJ, Frank C, Hachulla E, Houssiau F, Mueller-Ladner U, Schneider M, van Laar JM, Vieira A, Cutolo M, Mosca M, and Matucci-Cerinic M

Abstract

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., Competing Interests: Conflicts of interest: VS, None to declare. CAS, None to declare. RT, None to declare. PA, None to declare. TA, None to declare. YA, consulted for Actelion, Bayer, Roche/Genentech, Inventiva, Medac, Pfizer, Sanofi, Servier, and UCB; and has received research grants from Bristol-Myers Squibb, Roche/Genentech, Inventiva, Pfizer, Sanofi. CB, None to declare. VC, None to declare. VD, None to declare. JVB, None to declare. ADS, None to declare. OD, had consultancy relationship and/or has received research funding from Actelion, AnaMar, Bayer, Boehringer Ingelheim, Catenion, CSL Behring, ChemomAb, Roche, GSK, Inventiva, Italfarmaco, Lilly, medac, Medscape, Mitsubishi Tanabe Pharma, MSD, Novartis, Pfizer, Sanofi, and UCB in the area of potential treatments ofscleroderma and its complications. In addition, Prof. Distler has a patent mir-29 for the treatment of systemic sclerosis licensed. The real or perceived potential conflicts listed above are accurately stated. IG, None to declare. DL, None to declare. GL, None to declare. AM, None to declare. LM, None to declare. BR, None to declare. AS, None to declare. AT, None to declare. EV, None to declare. AV, None to declare. MV, None to declare. FVH, None to declare. RVV, consulted for AbbVie, AstraZeneca, Biogen, Biotest, BMS, Celgene, Gilead, GSK, Janssen, Lilly, Novartis, Pfizer, UCB; and received research support and grants from AbbVie, BMS, GSK, Pfizer, UCB. AV None to declare. EZ, None to declare. SB, None to declare. GB, None to declare. FJE, None to declare. CF, None to declare. EH, None to declare. FH, None to declare. UML, None to declare. MS, None to declare. JML, None to declare. AV, None to declare. MC, None to declare. MM, None to declare. MMC, has consultancy relationship and/or has received research funding for Actelion, BMS, Celgene, Chemomab, CSL Behring, Eli Lilly and Pfizer; and is a member of the college of emeritus presidents of the Italian Society of Rheumatology (SIR).

Published
2018
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25. Rarities in rare: illuminating the microvascular and dermal status in juvenile localised scleroderma. A case series

Author

Amber Vanhaecke, Dieneke Schonenberg-Meinema, Sofie De Schepper, Sandy C. Bergkamp, Maria C. Leone, Maritza A. Middelkamp-Hup, Amara Nassar-Sheikh Rashid, J. Merlijn van den Berg, Taco W. Kuijpers, Annamaria Iagnocco, Maurizio Cutolo, Vanessa Smith, Radiation Oncology, Graduate School, Paediatric Infectious Diseases / Rheumatology / Immunology, AII - Inflammatory diseases, Dermatology, APH - Methodology, APH - Quality of Care, and ARD - Amsterdam Reproduction and Development

Subjects
Adult, Scleroderma, Systemic, laser speckle contrast analysis, integumentary system, localised scleroderma, nailfold videocapillaroscopy, Immunology, microcirculation, durometer, ultrasonography, Microscopic Angioscopy, Scleroderma, Localized, Nails, Rheumatology, EULAR Study Group on Microcirculation in Rheumatic Diseases, Humans, Immunology and Allergy, ERN ReCONNET, skin fibrosis, Skin
Abstract

Objective. To assess the (structural and functional) characteristics of the microvascular and dermal status in juvenile localised scleroderma (jLoS), using novel non-invasive standardised research tools commonly used in adult systemic sclerosis (SSc). Methods. Ten consecutive patients with a confirmed jLoS diagnosis were studied cross-sectionally in this two-centre case series. For each patient, the most prominent lesion (i.e. "target lesion") was chosen for further examination of the centre, edge and contralateral unaffected site. High-frequency ultrasonography was used to determine dermal thickness, durometer for skin hardness, and laser speckle contrast analysis (LASCA) for a dynamical evaluation of the microcirculation. The structure of the microcirculation was evaluated at the nailfolds of the 2nd-5th finger bilaterally, using nailfold videocapillaroscopy (NVC). Results. 6 linear and 4 plaque subtype jLoS lesions were included. Dermal thickness was thinner at the centre of the "target lesions"vs. the edges (p

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