Health‐related quality of life in patients with neurofibromatosis 1 in Japan: A questionnaire survey using EQ‐5D‐5L

Neurofibromatosis 1 (NF1) is a genetic disorder characterized by various symptoms including dermatological, neurological, and osseous manifestations. These complications often cause cosmetic or functional disturbances, resulting in a significant impact on quality of life (QOL). However, there are limited data on QOL of individuals with NF1 in Japan. Therefore, we studied health-related QOL in patients with NF1 compared with that in general populations and the association with severity grade using EQ-5D. A cross-sectional study was conducted for 73 adult NF1 patients (26 males and 47 females; mean age, 44.16 years). The EQ-5D-5L values and visual analog scale (VAS) in patients with NF1 were 0.738 +/- 0.137 and 69.93 +/- 19.14, respectively. Both scores were significantly lower in patients with NF1 than in healthy volunteers (p < 0.0001). The score for anxiety/depression was the highest among the five items of EQ-5D. Although we investigated differences in the index value and VAS between stage 2 or less and stage 3 or higher, there was no difference in the scores between groups related to certification criteria for the public medical expenses subsidy system. EQ-5D-5L is a valuable assessment tool for health-related QOL in patients with NF1, but it might not be sufficient for severity certification of NF1 in Japan. We would need the revision of the current certification based on the patients' demand in the future. Our findings might be useful for assessment of therapeutic effects and appropriate resource allocation in the care of patients with NF1.