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 more...
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). more...