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Abstract
Background Diffuse cutaneous systemic sclerosis (dcSSc) is a severe subset of SSc, a chronic rare autoimmune connective tissue disease associated with high morbidity and mortality, and reduced quality of life. There are few treatments approved for dcSSc. Using semi-structured discussions, our objective was to gain better insight into clinical practice regarding referral and diagnosis of patients with dcSSc in different geographic regions.
Methods Physicians participated in 60- or 30-minute interviews, following a discussion outline, to determine how dcSSc patient care is structured in the USA and EU. Physicians were asked to identify key steps in the patient pathway, typical patient presentation, and the diagnostic, treatment, and follow-up processes used, and those responsible for their implementation.
Results Physicians in six countries (France, Germany, Italy, Spain, UK, and USA) were interviewed; 84 60-minute interviews with rheumatologists (or internal medicine specialists in France), and 40 30-minute interviews with dermatologists were conducted. Patient care was coordinated mostly by rheumatologists (except in France, where internal medicine specialists can be responsible), or to a lesser degree by dermatologists (in Germany, France, Italy) (Figure). Specialist centers are not well defined, and do not exist in all countries; therefore, most patients continued their treatment in the hospital where first diagnosed. Patients were slow to present to primary healthcare providers (HCPs), with presentation taking on average 6 months to 1 year, as they considered very early dcSSc symptoms to be trivial. Once referred to a rheumatologist, clinical evaluation and antibody testing led to quick diagnosis; however, dcSSc awareness among primary HCPs is variable, and delayed referral to a rheumatologist is common. Use of the 2013 ACR/EULAR updated classification of SSc, and the modified Rodnan skin score (mRSS) were limited to specialist centers and clinical trials, rather than daily practice, although physicians follow a similar diagnostic process. Where mRSS was measured (n=46 in this survey, predominantly by rheumatologists), patients had an mRSS of 10–22 at diagnosis, and >50% of diagnosed patients had an mRSS of ≥15. Physicians were vigilant for signs of organ involvement, but the priority given to skin changes differed according to specialty.
Conclusions Improved patient and primary HCP awareness of dcSSc could lead to earlier referral to a rheumatologist or dermatologist and the avoidance of delayed diagnosis. Specialized centers need better definition in most countries. Use of the mRSS at diagnosis and follow-up may help to monitor disease progression.
Disclosure of Interest D. Khanna Grant/research support from: NIH/NIAMS, NIH/ NIAID, Bayer, BMS, Consultant for: Bayer, BMS, Genetech/Roche, GSK, Genkyotex, Sanofi-Aventis, Actelion, Gilead, Employee of: University of Michigan, Y. Allanore Grant/research support from: Bristol-Myers Squibb, Roche/Genentech, Inventiva, Pfizer, Sanofi, Servier, Consultant for: Actelion, Bayer, Roche/Genentech, Inventiva, Medac, Pfizer, Sanofi, Servier, UCB, C. Denton Grant/research support from: Actelion, GSK, Novartis, CSL Behring, Consultant for: Bayer, Roche, GSK, Actelion, Inventiva, CSL Behring, Takeda, Merck-Serono, Medimmune, Biogen, M. Matucci-Cerinic Consultant for: Actelion, GSK, Pfizer, BMS, J. Pope Grant/research support from: Actelion, Bayer, Consultant for: Actelion, Bayer, B. Hinzmann Shareholder of: Bayer Pharma AG, Employee of: Bayer Pharma AG, S. Briody: None declared, J. de Oliveira Pena Employee of: Bayer HealthCare Pharmaceuticals Inc., O. Distler Grant/research support from: Actelion, Pfizer, Sanofi-Aventis, Bayer, Consultant for: Ergonex, United BioSource, Biovitrium, Novartis, Biogen Idec, Inventiva