Healthcare utilization patterns and costs related to neurofibromatosis 1 in Ontario, Canada

Neurofibromatosis type 1 (NF1) is a multisystemic disease, characterized by cutaneous manifestations and peripheral nerve sheath tumors. Patients also have a high prevalence of learning disability, gliomas, as well as other malignancies, and require specialized follow up and surveillance. However, there are limited data regarding how people with NF1 use the healthcare system. We aimed to assess the use of different health services in individuals with NF1 compared to the general population. This population-based, matched cohort study in Ontario, Canada, used a registry of individuals with confirmed NF1 from pediatric and adult clinics between 1990 and December 31, 2020, linked to administrative health databases. Each patient was matched 1:5 to population controls, by date of birth, sex, income quintile and geographic area of residence. We compared outpatient primary and specialty claims, hospitalizations, emergency department (ED) visits, same-day surgeries, overall healthcare costs and use of disability benefits. 1,210 individuals with NF1 were matched to 6,050 controls, mean follow up was 19.6 ± 8.7 and 18.8 ± 8.5 years, respectively; at the end of the study window, mean age was 26.2 ± 16.9 years. More adults with NF1 received disability benefits than controls (17.6% vs. 6.6%, p < 0.001). NF1 individuals had more ED visits (RR:1.11, 95% CI: 1.04–1.19), hospitalizations (RR: 2.66, 95% CI: 2.43–2.91), primary care visits (RR: 1.15, 95% CI: 1.10–1.21), specialist visits (RR:2.34, 95% CI: 2.18–2.51) and same-day surgeries (RR: 1.62, 95% CI: 1.47–1.69). Healthcare costs were higher in NF1 than controls (CAD$53,858 vs. CAD$18,133, p < 0.0001). Individuals with NF1 in rural areas had more ED visits and fewer primary and specialty visits than urban dwellers; those in the highest income quintile had fewer ED visits and hospitalizations. Individuals with NF1 in Ontario, Canada, have high use of outpatient and inpatient services, disability benefits and higher healthcare costs, highlighting the need for multidisciplinary care. Rurality and income quintile were associated with the use of healthcare resources; future work is needed to assess social determinants of health in NF1.