Economic burden and health-related quality of life in patients with neurofibromatosis type 1 in Greece

Abstract

Abstract Background Neurofibromatosis (NF) is a group of rare genetic disorders characterized by the development of tumours that may affect the brain, spinal cord, and the nerves that send signals between the brain and spinal cord and all other parts of the body. The disease burden on Greek patients and caregivers is unknown. Objective The aim of this study is to determine the societal economic burden and health-related quality of life (HRQoL) of families with neurofibromatosis type 1 (NF1) in Greece. Methods A cross-sectional study was conducted in which an online questionnaire was completed by NF1 patients and their caregivers. A cost of illness model was developed in which costs per NF1 patient were calculated from a societal perspective and extrapolated to the total affected population in Greece. Finally, the 36-item PedsQL™ Family Impact Module was used to measure the HRQoL of families with NF1 members. Results The economic burden of NF1 was estimated at €21,594 per patient in 2022. When extrapolating this outcome across all affected persons, the average annual cost was €56,319,583. Out-of-pocket expenses accounted for 10% of the total. Results of the analysis on HRQoL indicated a significant burden on family members representing the caregivers of NF1 patients with the majority of scores falling below 50 and a mean total score of 45. Conclusions The results highlight the considerable burden of NF1 not only in terms of the high costs but also in terms of reduced HRQoL for patients’ families.