Burden Among Caregivers of Adult Patients with Neurofibromatosis Type 1 and Plexiform Neurofibroma in the United States: A Cross-Sectional Survey Study

INTRODUCTION: Neurofibromatosis type 1 with plexiform neurofibromas (NF1-PN) is a chronic condition associated with significant morbidity. While patient outcomes have been characterized, the burden on caregivers of adult patients with NF1-PN has not been well described. This study evaluated caregiver burden and health-related quality of life (HRQoL) among primary caregivers of adults with NF1-PN. METHODS: Primary caregivers of adult patients with NF1-PN in the United States participated in this cross-sectional survey study. Caregiver burden was measured using standardized tools including Zarit Burden Interview (ZBI), the Work Productivity and Activity Impairment Questionnaire for Caregivers (WPAI:CG), and EQ-5D-5L. RESULTS: One hundred caregivers completed the survey (mean age 49.0 years, 67.0% female). Caregivers were most frequently parents (25.0%) or spouses/partners (19.0%), and 41.0% had provided care for more than 10 years. Nearly all caregivers (93.0%) received additional caregiving support, with 69.0% receiving > 10 h per week of additional help. The mean ± standard deviation (SD) ZBI score was 36.6 ± 15.6, indicating comparable burden to caregivers of other severe chronic conditions. Most caregivers were not employed (37.0% homemakers, 24.0% retired). Among employed caregivers (18.0%), the mean ± SD overall work productivity loss was 47.5% ± 23.9, with 15.6% ± 27.7 work time missed and 41.7% ± 22.8 impairment while working. The mean ± SD activity impairment among all participants was 50.2% ± 20.5. Despite relatively preserved physical health (mean EQ-5D utility score 0.84 ± 0.18), 66.0% of caregivers reported anxiety or depression. CONCLUSIONS: Caregiving for adults with NF1-PN is associated with substantial burden, including reduced work productivity, restricted daily activities, pain, and psychological difficulties. Despite relatively preserved physical health among caregivers, psychological distress and activity limitations are common. These findings demonstrate that NF1-PN affects not only patients but also their caregivers, highlighting the need for caregiver-focused support alongside clinical management of patients.