Neurofibromatosis type 1 NF1 is a complex multisystem genetic disorder that requires long-term, age-specific monitoring and multidisciplinary care. NF1 symptom burden can significantly affect the quality of life and impose a substantial economic burden on patients and their families. The approval and widespread availability of mitogen-activated protein kinase MEK inhibitors such as selumetinib for NF1-related plexiform neurofibromas have revolutionized the standard of care for patients with NF1, however their effective utilization hinges on early recognition of NF1.
Experts from the GCC also present recommendations for the early recognition and management of NF1 and its complications. A referral pathway that can play a crucial role in helping primary healthcare providers refer their patients to experts is also proposed. Increasing the availability and accessibility of genetic testing at an affordable cost and optimizing personalized NF1 care are essential for NF1 management.
Developing regional guidelines for NF1 management and establishing NF1 centers of excellence may facilitate better care and outcomes for patients with NF1 in the GCC region. Neurofibromatosis type 1 NF1 is a progressive genetic disease, with a generally estimated global prevalence of 1 in to 1 in people 1 , 2.
It is characterized by neuroectodermal anomaly that mainly affects the skin, nervous system, eyes, bones, and possibly other organs, causing significant morbidity or mortality 1 , 2. NF1 is caused by heterozygous mutations in the neurofibromin gene 17q Several studies have found NF1 genotype-phenotype correlations and provided an overview of their significance, advocating their role in improving the management and genetic counselling of patients with NF1 7 — 9.
Therefore, diagnosis based on the clinical features and genetic testing may help to provide better care for patients with NF1 7.
