BackgroundDiagnosis of neurogenic thoracic outlet syndrome (nTOS) is hindered by symptom overlap with cervical radiculopathy, carpal tunnel syndrome, or psychosomatic disorders. This challenge is further compounded by often normal imaging and electrodiagnostic findings, resulting in prolonged diagnostic suffering encompassing emotional, financial, and social burdens.
Objectives
This first qualitative study explores narratives from 25 diagnosed women initially prescribed physiotherapy: (1) identify key themes related to diagnostic challenges; (2) examine the psychological and emotional impact of diagnostic delay; and (3) propose a patient-centered diagnostic framework.
MethodsQualitative descriptive design using semi-structured interviews (20-30 minutes) with purposive sampling from a TOS clinic (inclusion: confirmed nTOS, >1-year symptoms, no prior surgery; Data saturation was achieved after 22 interviews). Braun and Clarke’s reflexive thematic analysis generated 1,247 inductive codes, which were organized into four themes and twelve subthemes. NVivo software was used for data management. Member checking was conducted, and reporting followed COREQ guidelines. Ethical approval was obtained, and participant anonymity was preserved through pseudonyms.
ResultsFour overarching themes emerged: (1) Fragmented Diagnostic Odyssey, characterized by multiple referrals (mean six clinicians per patient) and substantial out-of-pocket costs (USD 1,000–1,500); (2) Cascade of Misdiagnoses, including somatic mimics, invasive investigations, and prolonged incorrect treatment; (3) Social and Familial Invalidation, involving medical dismissal and pressure toward psychiatric explanations; and (4) Profound Emotional Suffering, with isolation and hopelessness identified in 84% of transcripts. A conceptual model was developed to illustrate the cumulative diagnostic journey.
ConclusionNeurogenic thoracic outlet syndrome is associated with multilayered diagnostic and social invalidation consistent with the stigma of invisible illness. Improving outcomes requires enhanced clinician awareness of nTOS-specific red flags, validation of patient narratives, and multidisciplinary diagnostic pathways to reduce delays, prevent iatrogenic harm, and alleviate psychological distress.
Keywords Diagnostic suffering
· Qualitative study
· Misdiagnosis
· Thematic analysis
· Medical invalidation
· Social stigma
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