Characteristics of patients with neurofibromatosis and patient and caregiver perspectives on the impact of the disease and its clinical management in Spain and Portugal

Abstract Background Neurofibromatosis (NF) is a genetic disorder of the nervous system that causes the growth of tumours on nerve tissues. There are three main types of NF: NF1, NF2-related schwannomatosis, and non-NF2-related schwannomatosis, each associated with distinct clinical characteristics and health complications. Although NF is primarily a non-malignant condition, it significantly impacts health-related quality of life (HRQoL) for both patients and their caregivers. Despite the growing availability of therapeutic options, including surgery and targeted therapies, NF remains a chronic condition requiring lifelong management. Methods A cross-sectional, observational study conducted with patients diagnosed with NF across Spain and Portugal. Sociodemographic and clinical data were collected, and the impact of the disease on patients’ and caregivers’ quality of life was assessed through an online ad-hoc questionnaire. Results The study revealed that NF has a multidimensional impact on both patients and caregivers. Patients reported significant physical, emotional, and social challenges, with symptoms such as chronic pain, tumor-related complications, and hearing loss as the most frequently reported, having the greatest impact on their QoL. Caregivers also experienced diminished HRQoL due to the demands of providing support. Despite the availability of surgical interventions and emerging targeted therapies, many patients indicated that they were not very satisfied with the management of the disease in the public health system. Conclusions The findings highlight the need for more comprehensive management strategies that not only target the physical manifestations of NF but also provide greater psychosocial support for patients and caregivers in the context of Spain and Portugal. This region-specific insight would help to implement strategies to optimize the management, improve the quality of care, and, consequently, improve the quality of life of NF patients and their caregivers.