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 CTDILD
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.