[en] Despite the low prevalence of each rare disease, the total burden is high. Patients with rare diseases encounter numerous barriers, including delayed diagnosis and limited access to high-quality treatments. In order to tackle these challenges, the European Commission launched the European Reference Networks (ERNs), cross-border networks of healthcare providers and patients representatives. In parallel, the aims and structure of these ERNs were translated at the federal and regional levels, resulting in the creation of the Flemish Network of Rare Diseases. In line with the mission of the ERNs and to ensure equal access to care, we describe as first patient pathways for systemic sclerosis (SSc), as a pilot model for other rare connective and musculoskeletal diseases. Consensus was reached on following key messages: 1. Patients with SSc should have multidisciplinary clinical and investigational evaluations in a tertiary reference expert centre at baseline, and subsequently every three to 5 years. Intermediately, a yearly clinical evaluation should be provided in the reference centre, whilst SSc technical evaluations are permissionably executed in a centre that follows SSc-specific clinical practice guidelines. In between, monitoring can take place in secondary care units, under the condition that qualitative examinations and care including interactive multidisciplinary consultations can be provided. 2. Patients with early diffuse cutaneous SSc, (progressive) interstitial lung disease and/or pulmonary arterial hypertension should undergo regular evaluations in specialised tertiary care reference institutions. 3. Monitoring of patients with progressive interstitial lung disease and/or pulmonary (arterial) hypertension will be done in agreement with experts of ERN LUNG.
Disciplines :
Cardiovascular & respiratory systems Rheumatology
Author, co-author :
Piette, Y; Department of Rheumatology, Ghent University Hospital, Ghent, Belgium ; Department of Internal Medicine, Ghent University, Ghent, Belgium ; Department of Rheumatology, AZ Sint-Jan Brugge-Oostende AV, Bruges, Belgium
Van den Bossche, F; Department of Internal Medicine, Ghent University, Ghent, Belgium
Aerts, J; Flemish Association for Hereditary Connective Tissue Disorders (Bindweefsel.be), Koersel, Belgium
Aerts, N; Department of Rheumatology, Ziekenhuis Netwerk Antwerpen (ZNA) Middelheim, Antwerp, Belgium
Ajeganova, S; Department of Clinical Sciences, Rheumatology Division, Universitair Ziekenhuis Brussel, Vrije Universiteit Brussel, Brussels, Belgium
Badot, V; Department of Rheumatology, CHU Brugmann, Université Libre de Bruxelles, Brussels, Belgium
Berghen, N; Department of Rheumatology, AZ Klina, Brasschaat, Belgium
Blockmans, D; Department of general internal medicine, University Hospitals Leuven, Leuven, Belgium, Department of Microbiology, Immunology, and Transplantation, Laboratory of clinical infectious and inflammatory disorders, KU Leuven, Leuven, Belgium
Brusselle, G; Laboratory for Translational Research in Obstructive Pulmonary Diseases, Department of Respiratory Medicine, Ghent University Hospital, C. Heymanslaan, Ghent, Belgium ; Department of Respiratory Medicine, Ghent University Hospital, Ghent, Belgium ; Department of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands ; Department of Respiratory Diseases, Erasmus Medical Center, Rotterdam, The Netherlands
De Decker, M; Department of Rheumatology, Ghent University Hospital, Ghent, Belgium
De Haes, P; Department of Dermatology, KU Leuven University Hospitals Leuven, Leuven, Belgium
De Cock, C; Department of Pneumology, Maria Middelares, Ghent, Belgium
De Keyser, F; Praktijk 10A, Maldegem, Belgium
De Langhe, E; Department of Rheumatology, University Hospitals Leuven, Leuven, Belgium ; Department of Development and Regeneration, KU Leuven, Leuven, Belgium
Delcroix, M; Clinical Department of Respiratory Diseases, University Hospitals of Leuven and Laboratory of Respiratory Diseases and Thoracic Surgery (BREATHE), Department of Chronic Diseases and Metabolism (CHROMETA), KU Leuven - University of Leuven, Leuven, Belgium
De Nutte, H; Zorgnet-Icuro
De Pauw, M; Department of Cardiology, Ghent University Hospital, Ghent, Belgium
Depicker, A; Department of Rheumatology, Maria Middelares, Ghent, Belgium
De Sutter, A; Department of Family Practice and Primary Health Care, Ghent University, Ghent, Belgium
De Sutter, J; Department of Cardiology, Hartcentrum, AZ Maria Middelares, Ghent, Belgium, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium
Du Four, T; Department of Dermatology, KU Leuven University Hospitals Leuven, Leuven, Belgium
Frank, C; Department of Rheumatology, CHU Brugmann, Université Libre de Bruxelles, Brussels, Belgium
Goubau, J; Department of Orthopaedics and Traumatology, AZ Maria Middelares, Ghent, Belgium, Department of Orthopedics and Traumatology, UZ Brussel, Brussels, Belgium
Guiot, Julien ; Centre Hospitalier Universitaire de Liège - CHU > > Service de pneumologie - allergologie
Gutermuth, J; Department of Dermatology, University Hospital Brussels, Brussels, Belgium
Heeman, L; Huisartspraktijk De Zwaene, Bruges, Belgium
Houssiau, F; Pôle de Pathologies Rhumatismales Inflammatoires et Systémiques, Institut de Recherche Expérimentale et Clinique, Université Catholique de Louvain, Service de Rhumatologie, Cliniques Universitaires Saint-Luc, Brussels, Belgium
Lenaerts, J; Department of Rheumatology, University Hospitals Leuven, Leuven, Belgium, Reumainstituut and Jessa Hospital, Hasselt, Belgium, Department of Rheumatology, AZ Vesalius, Tongeren, Belgium
Lintermans, A; Vlaams Patiënten Platform
Loeys, B; Department of Clinical Genetics, Radboud University Medical Center, Nijmegen, The Netherlands, Center for Medical Genetics, Antwerp University Hospital & University of Antwerp, Antwerp, Belgium
Luyten, H; Department of Rheumatology, AZ Sint-Lucas, Ghent, Belgium
Maeyaert, B; Department of Rheumatology, AZ Sint-Lucas, Bruges, Belgium
Malfait, F; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium, Department for Biomolecular Medicine, Ghent University, Ghent, Belgium
Moeyersoons, A; Department of Rheumatology, AZ Nikolaas, Sint-Niklaas, Belgium
Mostmans, Y; Department of Immunology-Allergology, CHU Brugmann, Université Libre de Bruxelles, Brussels, Belgium, Department of Dermatology, CHU Brugmann, Université Libre de Bruxelles, Brussels, Belgium
Nijs, J; Department of Cardiac Surgery, UZ Brussels, Brussels, Belgium
Poppe, B; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium, Department for Biomolecular Medicine, Ghent University, Ghent, Belgium
Ruttens, D; Department of Respiratory Medicine, Ziekenhuis Oost Limburg, Genk, Belgium, Faculty of Medicine and Life Science, Hasselt University, Hasselt, Belgium
Sabato, V; Department of Immunology, Allergology, Rheumatology and the Infla-Med Centre of Excellence, University of Antwerp, Antwerp, Belgium, Department of Immunology, Allergology, Rheumatology, Antwerp University Hospital, Antwerp, Belgium, Department of Immunology and Allergology, AZ Jan Palfijn Gent, Ghent, Belgium
Schoeters, E; RaDiOrg
Slabbynck, H; Department of Pneumology, ZNA Middelheim, Antwerpen, Belgium
Stuer, A; Department of Rheumatology, AZ Delta, Roeselare, Belgium
Tamirou, F; Huisartspraktijk De Zwaene, Bruges, Belgium
Thevissen, Kristof; Department of Rheumatology, ZOL Genk, Genk, Belgium, Reumacentrum Genk, Genk, Belgium, Faculty of Medicine and Life Sciences, Hasselt University, Diepenbeek, Belgium
Van Kersschaever, G; Wijkgezondheidscentrum De Ridderbuurt, Leuven, Belgium, Domus Medica
Vanneuville, B; Department of Rheumatology, Sint-Andries Hospital, Tielt, Belgium, Department of Rheumatology, AZ Groeninge, Kortrijk, Belgium
Van Offel, J; Department of Rheumatology, University Hospital of Antwerp, Antwerp, Belgium
Vanthuyne, M; Pôle de Pathologies Rhumatismales Inflammatoires et Systémiques, Institut de Recherche Expérimentale et Clinique, Université Catholique de Louvain, Service de Rhumatologie, Cliniques Universitaires Saint-Luc, Brussels, Belgium
Van Wabeke, J; Department of Rheumatology, AZ Sint-Lucas, Ghent, Belgium
Verbist, C; Department of Rheumatology, AZ Delta, Roeselare, Belgium
Vos, I; Department of Rheumatology, GZA Hospitals, Antwerp, Belgium
Westhovens, R; Department of Development and Regeneration, KU Leuven, Leuven, Belgium
Wuyts, W; Department of Pneumology, UZ Leuven, Leuven, Belgium
Yserbyt, J; Department of Pneumology, UZ Leuven, Leuven, Belgium
Smith, V ; Department of Rheumatology, Ghent University Hospital, Ghent, Belgium, Department of Internal Medicine, Ghent University, Ghent, Belgium, Unit for Molecular Immunology and Inflammation, VIB Inflammation Research Centre (IRC), Ghent, Belgium
Decision No 1295/1999/EC of the European Parliament and of the Council of 29 April 1999 adopting a programme of Community action on rare diseases within the framework for action in the field of public health (1999 to 2003), (1999).
GiannuzziV, ConteR, LandiA, et al. Orphan medicinal products in Europe and United States to cover needs of patients with rare diseases: an increased common effort is to be foreseen. Orphanet J Rare Diseases. 2017;12(1):64. doi: 10.1186/s13023-017-0617-1
LutzT, LampertA, HoffmannGF, et al. Novel treatments for rare rheumatologic disorders: analysis of the impact of 30 years of the US orphan drug act. Orphanet J Rare Diseases. 2016;11(1):60. doi: 10.1186/s13023-016-0443-x
Council recommendation of 8 June 2009 on an action in the field of rare diseases, (2009).
de la Paz MP, Villaverde-HuesoA, AlonsoV, et al. Rare diseases epidemiology research. Adv Exp Med Biol. 2010;686:17–39.
TalaricoR, AguileraS, AlexanderT, et al. The added value of a European reference Network on rare and complex connective tissue and musculoskeletal diseases: insights after the first 5 years of the ERN ReCONNET. Clin Exp Rheumatol. 2022;134(5):3–11. doi: 10.55563/clinexprheumatol/d2qz38
CutoloM, SoldanoS, SmithV.Pathophysiology of systemic sclerosis: current understanding and new insights. Expert Rev Clin Immunol. 2019;15(7):753–764.
LeroyEC, TAM. Criteria for the classification of early systemic sclerosis. J Rheumatol. 2001;28(7):1573–1576.
van den Hoogen F, KhannaD, FransenJ, et al. Classification criteria for systemic sclerosis: an American college of rheumatology/European league against rheumatism collaborative initiative. Ann Rheum Dis. 2013;72(11):1747–1755. doi: 10.1136/annrheumdis-2013-204424
ElhaiM, MeuneC, BoubayaM, et al. Mapping and predicting mortality from systemic sclerosis. Ann Rheumatic Dis. 2017;76(11):1897–1905. doi: 10.1136/annrheumdis-2017-211448
HumbertM, YaiciA, de GrooteP, et al. Screening for pulmonary arterial hypertension in patients with systemic sclerosis: clinical characteristics at diagnosis and long-term survival. Arthritis & Rheumatism. 2011;63(11):3522–3530. doi: 10.1002/art.30541
HoaS, BernatskyS, BaronM, et al. Association between immunosuppressive therapy and incident risk of interstitial lung disease in systemic sclerosis. Chest. 2021;160(6):2158–2162. doi: 10.1016/j.chest.2021.06.014
SaketkooLA, FrechT, VarjuC, et al. A comprehensive framework for navigating patient care in systemic sclerosis: a global response to the need for improving the practice of diagnostic and preventive strategies in SSc. Best Pract Res Clin Rheumatol. 2021;35(3):101707. doi: 10.1016/j.berh.2021.101707
VanthuyneM, SmithV, De LangheE, et al. The Belgian systemic sclerosis cohort: correlations between disease severity scores, cutaneous subsets, and autoantibody profile. J Rheumatol. 2012;39(11):2127–2133. doi: 10.3899/jrheum.120283
HumbertM, KovacsG, HoeperMM, et al. ESC/ERS guidelines for the diagnosis and treatment of pulmonary hypertension. Eur Heart J. 2022;43(38):3618–3731. doi: 10.1093/eurheartj/ehac237
SmithV, VanhaeckeA, HerrickAL, et al. Fast track algorithm: how to differentiate a “scleroderma pattern” from a “non-scleroderma pattern”. Autoimmun Rev. 2019;18(11):102394. doi: 10.1016/j.autrev.2019.102394
RajanSK, CottinV, DharR, et al. Progressive pulmonary fibrosis: an expert group consensus statement. Eur Respir J. 2023;61(3):2103187. doi: 10.1183/13993003.03187-2021
De LangheE. Lessons and opportunities from registries: the Belgian systemic sclerosis cohort. Tijdschrift voor Geneeskunde. 2009;65(19):914–915.
MelsensK, VandecasteeleE, DeschepperE, et al. Two years follow-up of an open-label pilot study of treatment with rituximab in patients with early diffuse cutaneous systemic sclerosis. Acta Clin Belg. 2018;73(2):119–125. doi: 10.1080/17843286.2017.1372244
SmithV, VanthuyneM, Vander CruyssenB, et al. Over-representation of construction-related occupations in male patients with systemic sclerosis. Ann Rheumatic Dis. 2008;67(10):1448–1450. doi: 10.1136/ard.2008.088419
VandecasteeleE, MelsensK, VanhaeckeA, et al. Incidence, prevalence and long-term progression of Goh algorithm rated interstitial lung disease in systemic sclerosis in two independent cohorts in flanders: a retrospective cohort study. Semin Arthritis Rheum. 2021;51(5):969–976. doi: 10.1016/j.semarthrit.2021.07.018
BoulangerV, SchlemmerM, RossovS, et al. Establishing patient registries for rare diseases: rationale and challenges. Pharm Med. 2020;34(3):185–190. doi: 10.1007/s40290-020-00332-1
HagemanIC, van RooijI, de BlaauwI, et al. A systematic overview of rare disease patient registries: challenges in design, quality management, and maintenance. Orphanet J Rare Diseases. 2023;18(1):106. doi: 10.1186/s13023-023-02719-0
DeMizioDJ, BernsteinEJ. Detection and classification of systemic sclerosis-related interstitial lung disease: a review. Curr Opin Rheumatol. 2019;31(6):553–560.
HerrickAL, PanX, PeytrignetS, et al. Treatment outcome in early diffuse cutaneous systemic sclerosis: the European scleroderma Observational study (ESOS). Annals of the rheumatic diseases. Ann Rheumatic Dis. 2017;76(7):1207–1218. doi: 10.1136/annrheumdis-2016-210503
VonkMC, SmithV, SfikakisPP, et al. Pharmacological treatments for SSc-ILD: systematic review and critical appraisal of the evidence. Autoimmun Rev. 2021;20(12):102978.
SmithV, ScireCA, TalaricoR, et al. Systemic sclerosis: state of the art on clinical practice guidelines. RMD Open. 2018;4(Suppl 1):e000782. doi: 10.1136/rmdopen-2018-000782
KhannaD, GladueH, ChannickR, et al. Recommendations for screening and detection of connective tissue disease-associated pulmonary arterial hypertension. Arthritis & Rheumatism. 2013;65(12):3194–3201. doi: 10.1002/art.38172