Objective The impact and natural history of connective tissue disease related interstitial lung disease (CTD-ILD) are poorly understood; and have not been previously described from the patient’s perspective. This investigation sought insight into CTD-ILD from the patients’ perspective to add to our knowledge of CTD-ILD, identify disease-specific areas of unmet need and gather potentially meaningful information towards development of disease-specific patient-reported outcome measures (PROMs). Methods A mixed methods design incorporating patient focus groups (FGs) querying disease progression and life impact followed by questionnaires with items of importance generated by >250 ILD specialists were implemented among CTD-ILD patients with rheumatoid arthritis, idiopathic inflammatory myopathies, systemic sclerosis, and other CTD subtypes. FG data were analyzed through inductive analysis with five independent analysts, including a patient research partner. Questionnaires were analyzed through Fisher’s Exact tests and hierarchal cluster analysis. Results Six multicenter FGs included 45 patients. Biophysiologic themes were cough and dyspnea, both pervasively impacting health related quality of life (HRQoL). Language indicating dyspnea was unexpected, unique and contextual. Psycho-social themes were Living with Uncertainty, Struggle over Self-Identity, and Self-Efficacy - with education and clinician communication strongly emphasised. All questionnaire items were rated ‘moderately’ to ‘extremely’ important with 10 items of highest importance identified by cluster analysis. Conclusion Patients with CTD-ILD informed our understanding of symptoms and impact on HRQoL. Cough and dyspnea are central to the CTD-ILD experience. Initial FGs have provided disease-specific content, context and language essential for reliable PROM development with questionnaires adding value in recognition of patients’ concerns.

The advent of biologic therapy in the treatment of rheumatic diseases has intensified the need to further define and characterize spondyloarthritis (SpA). There has been a long debate over nomenclature of the SpA subtypes. There are those who are considered "lumpers," favoring the notion that different entities of the SpA groups are manifestations of the same disease, and "splitters," those who believe the different SpA groups represent separate diseases with shared clinical features. The influential work by Moll et al. has led to separation of entities and recognition of etiological processes of SpA subtypes. Among these subtypes has emerged nonradiographic axial spondyloarthritis (nr-axSpA), which is believed to be either an early form of ankylosing spondylitis (AS) or perhaps a different disease entity altogether. Recently attention has shifted to the characterization of early SpA, with special emphasis on nonradiographic axial SpA. The Assessment of Spondyloarthritis International Society (ASAS) has developed new criteria for the classification of this disease entity. Along with the advent of these criteria have come several unanswered questions. Although data suggests that nr-axSpA will evolve into AS over time, the natural evolution of disease is still undetermined since a proportion of cases do not progress. A number of questions also remain regarding features of patients with AS compared to those with nonradiographic disease. This appraisal highlights the differences in disease characteristics between men and women in regards to measures of disease activity, inflammatory markers, and radiologic findings. Recent studies also suggest fibromyalgia as a potential confounding factor in assessing disease activity and establishing a diagnosis of axSpA in the female population. Nonradiographic axial SpA is a relevant disease subgroup of axial SpA, and several questions have been left unanswered with more research needed regarding diagnosis (particularly in women), treatment, and long-term disease course.