Treatment Patterns and Healthcare Resource Utilization of Pediatric Patients With Neurofibromatosis Type 1 and Unresectable Plexiform Neurofibromas in Canada

Abstract Background Neurofibromatosis type 1 (NF1) is a complex genetic disorder, with typical symptom onset in childhood, associated with diminished quality of life and potential progressive debilitation. Plexiform neurofibromas (PNs) affect up to 50% of patients with NF1 and are often not completely resectable, resulting in increased healthcare resource utilization (HCRU). Methods This descriptive review of anonymized medical records of pediatric patients diagnosed with and treated for NF1 between 2000 and 2020 aimed to characterize NF1 with not completely resectable PNs—with specific focus on clinical characteristics at diagnosis, HCRU among multispecialty providers, treatment and surgeries, symptom and pain management, and clinical outcomes. Results The records of 53 pediatric patients were abstracted from 3 participating sites across Canada. Patients were mostly male (58.5%) and had median ages of 2.0 (interquartile range [IQR], 3.0) and 5.0 (IQR, 8.0) years at the time of NF1 diagnosis and first diagnosis of not completely resectable PN, respectively. Eighteen patients had only asymptomatic PNs, and 35 patients had at least 1 symptomatic PN. All patients had ≥1 NF1 manifestation (e.g., skeletal deformities, 50.9%; migraines, 28.3%; neuropathic pain, 20.8%). Patients experienced complications (e.g., pain, 35.8%; disfigurement, 41.5%), poor PN-related outcomes (e.g., malignancy, 9.4%; regrowth after debulking or partial resection surgery, 64.3%), visited the emergency department (52.8%), or were hospitalized at least once (47.2%). Conclusion There is a substantial burden of illness and unmet treatment needs for patients with NF1 and not completely resectable PNs, particularly among pediatric patients with symptomatic PNs.