Presentation (CTI)

OBJECTIVES: Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant genetic disorders, affecting approximately 1 in 3,000 individuals worldwide. This study aims to synthesize evidence on the humanistic burden among patients with NF1 and the burden experienced by their caregivers across different countries and age groups.
METHODS: A systematic literature review was conducted using PubMed, Embase, Cochrane Library, CNKI, Wanfang from inception to May 2026. Studies reporting health-related quality of life (HRQoL), psychological health, social functioning and caregiver burden in NF1 were included. Data were extracted and narratively synthesized.
RESULTS: 24 studies on NF1 patients and four studies on caregivers were included. Adult patients consistently reported impaired HRQoL, with EQ-5D utility values ranging from 0.38 to 0.73, accompanied by high rates of pain, anxiety, depression, negative body image, and productivity loss. Disease visibility and severity were associated with poorer outcomes. Children and adolescents exhibited deficits in school functioning, peer relationships, executive functioning, and disease-specific HRQoL, while parent proxy reports generally indicated greater psychosocial impairment than child self-reports. Caregivers experienced substantial burden, with mean Zarit Burden Interview scores ranging from 23.0 to 36.6. Approximately 39.5%-48.0% reported moderate-to-severe burden. Reduced HRQoL, anxiety/depression, productivity loss, and activity impairment were common, with burden varying by patient age and country.
CONCLUSIONS: NF1 imposes substantial humanistic burden on both patients and caregivers, extending beyond physical manifestations to psychological wellbeing, social participation, and daily functioning. Integrating routine psychosocial assessment, multidisciplinary management, and caregiver support into NF1 care pathways may improve outcomes for affected families.