Clinical and Humanistic Burden Among Adults with Neurofibromatosis Type 1 and Symptomatic Plexiform Neurofibroma in the United States.
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INTRODUCTION: Neurofibromatosis type 1 with plexiform neurofibromas (NF1-PN) can cause substantial clinical morbidity, yet the overall humanistic burden in adults remains poorly characterized. This study assessed health-related quality of life (HRQoL), in addition to clinical characteristics, among adults with symptomatic NF1-PN. METHODS: A cross-sectional survey was conducted among adults with NF1-PN in the USA. The survey included the following patient-reported outcome (PRO) measures: PAin INtensity Scale for Plexiform Neurofibromas (PAINS-pNF), Pain Interference Index (PII-pNF), PN quality of life measure (PlexiQoL), Patient-Reported Outcomes Measurement Information System (PROMIS), Pediatric Quality of Life Inventory (PedsQL), Work Productivity and Activity Impairment (WPAI-CIQ), and EQ-5D-5L. RESULTS: Among 120 participants (mean age 41.8 years, 46.7% female), 80.0% reported experiencing pain and fatigue. Over half of patients reported moderate-to-severe chronic (51.7%) and spike (83.3%) tumor pain (PAINS-pNF: mean chronic pain = 3.6 ± 2.5; mean spike pain = 6.3 ± 3.2), with considerable interference with daily activities (PII-pNF: mean = 3.1 ± 1.6). PROMIS scores indicated worse outcomes than the general population for physical function (38.4 ± 7.7), depression (59.0 ± 9.2), anxiety (60.1 ± 9.5), and fatigue (59.0 ± 10.2). Only 12.5% were employed, with 50.8% reporting disability. Among employed individuals, work productivity loss averaged 39.3% ± 30.7. Overall daily activity impact was high (55.5% ± 22.5). The mean EQ-5D-5L utility score was 0.38 ± 0.39, with 69.2% reporting moderate-to-extreme pain/discomfort and 57.5% reporting moderate-to-extreme anxiety/depression. CONCLUSION: Adults with symptomatic NF1-PN experience substantial disease burden across multiple domains, including high prevalence of pain, impaired physical and psychological functioning, reduced work productivity, and low health utility scores. These results highlight the need for integrated pharmacological, psychological, and rehabilitation interventions to support overall patient well-being.