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 a...
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| Format: | Article |
| Language: | English |
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Springer
2025-08-01
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| Series: | Journal of Rare Diseases |
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| Online Access: | https://doi.org/10.1007/s44162-025-00089-8 |
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| author | Joan Lluis Vinent Joao Passos Aitana Aguilera Ana Elisabete Pires Laura Benedito-Palos Laura Gutiérrez Anna Ribera Ignacio Blanco |
| author_facet | Joan Lluis Vinent Joao Passos Aitana Aguilera Ana Elisabete Pires Laura Benedito-Palos Laura Gutiérrez Anna Ribera Ignacio Blanco |
| author_sort | Joan Lluis Vinent |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-248d6f0915634ef290fe84241d851684 |
| institution | Kabale University |
| issn | 2731-085X |
| language | English |
| publishDate | 2025-08-01 |
| publisher | Springer |
| record_format | Article |
| series | Journal of Rare Diseases |
| spelling | doaj-art-248d6f0915634ef290fe84241d8516842025-08-20T04:03:12ZengSpringerJournal of Rare Diseases2731-085X2025-08-014111410.1007/s44162-025-00089-8Characteristics of patients with neurofibromatosis and patient and caregiver perspectives on the impact of the disease and its clinical management in Spain and PortugalJoan Lluis Vinent0Joao Passos1Aitana Aguilera2Ana Elisabete Pires3Laura Benedito-Palos4Laura Gutiérrez5Anna Ribera6Ignacio Blanco7Hospital Sant Joan de DéuInstituto Português de Oncologia de Lisboa Francisco Gentil (IPO Lisboa)Asociación de Afectados de NeurofibromatosisAssoziação Portuguesa de NeurofibromatoseOutcomes’10, S.L.U.Alexion Pharma Spain, S.L.Alexion Pharma Spain, S.L.Hospital Universitario Germans Trias i PujolAbstract 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.https://doi.org/10.1007/s44162-025-00089-8NeurofibromatosisSchwannomatosisSurveyImpactHealth-related quality of life |
| spellingShingle | Joan Lluis Vinent Joao Passos Aitana Aguilera Ana Elisabete Pires Laura Benedito-Palos Laura Gutiérrez Anna Ribera Ignacio Blanco Characteristics of patients with neurofibromatosis and patient and caregiver perspectives on the impact of the disease and its clinical management in Spain and Portugal Journal of Rare Diseases Neurofibromatosis Schwannomatosis Survey Impact Health-related quality of life |
| title | Characteristics of patients with neurofibromatosis and patient and caregiver perspectives on the impact of the disease and its clinical management in Spain and Portugal |
| title_full | Characteristics of patients with neurofibromatosis and patient and caregiver perspectives on the impact of the disease and its clinical management in Spain and Portugal |
| title_fullStr | Characteristics of patients with neurofibromatosis and patient and caregiver perspectives on the impact of the disease and its clinical management in Spain and Portugal |
| title_full_unstemmed | Characteristics of patients with neurofibromatosis and patient and caregiver perspectives on the impact of the disease and its clinical management in Spain and Portugal |
| title_short | Characteristics of patients with neurofibromatosis and patient and caregiver perspectives on the impact of the disease and its clinical management in Spain and Portugal |
| title_sort | characteristics of patients with neurofibromatosis and patient and caregiver perspectives on the impact of the disease and its clinical management in spain and portugal |
| topic | Neurofibromatosis Schwannomatosis Survey Impact Health-related quality of life |
| url | https://doi.org/10.1007/s44162-025-00089-8 |
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