To characterize impairment and disability in neurosarcoidosis (NS) from the patient perspective.

NS represents a neglected, costly, and often disabling disease, characterized by its heterogeneity and variability. Its impact on disability has rarely been studied systematically and never from the patient perspective.

Subjects were recruited from our site and Foundation for Sarcoidosis Research patient conferences in Birmingham, AL, Durham, NC, and Iowa City, IA. Subjects were 18 or older and had probable or definite NS, defined by the NS Consortium Consensus Diagnostic Criteria. Focus groups were co-moderated by a trained PhD level facilitator and a physician with experience in treating NS. A topic guide with pre-defined, open-ended questions was used. Focus groups continued until we reached saturation of themes. All discussions were transcribed verbatim. Thematic coding was performed based on grounded theory.

There were 18 subjects, mean age 49 (range 34-61), 15 (83%) female, 5 (28%) African American (the rest Caucasian). Average duration of diagnosis was 9 years (range 2-23). Variable levels of disability were reflected by employment status, 5 (28%) full-time, 1 (6%) student, 2 (11%) retired, 9 (50%) disabled, 1 (6%) other. Subjects stressed the importance of accounting for heterogeneity and variability of the disease and side effects of treatment. Upper extremity function, lower extremity function, vision, cognition, fatigue, pain, and bowel and bladder function were identified as key functional domains for inclusion in outcome measures.

Patient-centered outcome measures in NS should account for heterogeneity and variability of the disease, assess treatment side effects, and include key functional domains important to patients’ health-related quality of life.