ENOrphanet Journal of Rare Diseases | Healthcare Utilization Patterns and Costs Related to Neurofibromatosis Type 1 in Ontario
Date: January 29, 2026
Classification: Frontiers
Recommend:
Based on a large population-based cohort, this study systematically reveals significantly increased healthcare resource utilization, hospitalization frequency, specialist visits, and medical expenditures among patients with neurofibromatosis type 1 (NF1), and identifies that place of residence and income level influence healthcare service utilization, providing crucial real-world evidence for rare disease health management.
Literature Overview
The article 'Healthcare utilization patterns and costs related to neurofibromatosis 1 in Ontario, Canada,' published in the Orphanet Journal of Rare Diseases, reviews and summarizes a population-based matched cohort study conducted in Ontario, Canada, aiming to evaluate differences in healthcare resource utilization and related costs between individuals with neurofibromatosis type 1 (NF1) and the general population. By anonymously linking the NF1 specialty clinic registry with provincial administrative health databases, the study analyzed long-term follow-up data from 1990 to 2020, systematically comparing the two groups in terms of emergency department visits, hospitalizations, outpatient services, surgeries, and medical expenditures. The study found significantly higher overall healthcare resource consumption among NF1 patients, with socioeconomic factors such as place of residence and income level influencing service access patterns. This research provides key evidence for understanding the disease burden of NF1, optimizing multidisciplinary care pathways, and informing health policy. The article emphasizes the necessity of strengthening comprehensive management for NF1 patients, particularly in remote and low-income populations.Background Knowledge
Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder caused by pathogenic variants in the NF1 gene, with an estimated incidence of 1 in 1,900 to 1 in 3,500, making it one of the most common monogenic neurological disorders in humans. Its clinical manifestations are highly heterogeneous, with typical features including café-au-lait spots, axillary freckling, neurofibromas (especially plexiform neurofibromas), and optic pathway gliomas. Additionally, NF1 patients face multiple systemic complications such as learning disabilities, skeletal deformities, hypertension, malignant peripheral nerve sheath tumors (MPNST), and increased risks of various other tumors, leading to a reduced life expectancy by 8–15 years. Although the updated diagnostic criteria in 2021 improved diagnostic accuracy, NF1 management continues to face numerous challenges. Current research focuses include molecular mechanisms of NF1-related tumors, development of targeted therapies (e.g., MEK inhibitors), interventions for pain and quality of life, and optimization of multidisciplinary care models. However, large-scale population data on how NF1 patients utilize the healthcare system, their long-term medical costs, and the impact of socioeconomic factors on service access remain limited. Previous studies have mostly been restricted to single centers or small samples, making them insufficient to represent the broader patient population. This study fills that gap by linking high-quality administrative databases, providing a comprehensive picture of healthcare utilization and economic burden in NF1, offering a crucial entry point for healthcare resource planning and health equity research.
Study Methods and Experiments
This study employed a population-based matched cohort design. The study population was drawn from registries of two NF1 specialty clinics in Ontario (The Hospital for Sick Children and the University Health Network), including 1,210 clinically diagnosed NF1 patients. Each patient was matched 1:5 with five individuals from the general population based on date of birth, sex, income quintile, and geographic region of residence, resulting in 6,050 controls. Data were sourced from multiple administrative health databases at ICES (formerly the Institute for Clinical Evaluative Sciences), including outpatient and surgical claims from the Ontario Health Insurance Plan (OHIP), emergency department visits (NACRS), hospitalizations (DAD), and drug benefits (ODB). The index date was defined as the date of birth or first eligibility for health coverage, with long-term follow-up for all individuals until death, loss of health coverage, or the end of the study period (December 31, 2020). Primary outcomes included emergency department visits, hospitalizations, same-day surgeries, primary and specialist visits, total healthcare costs, and receipt of disability benefits. Poisson or negative binomial regression models were used to calculate risk ratios (RR), adjusted for age, sex, income, region, and comorbidities. Healthcare costs were standardized to 2020 Canadian dollars and covered the period from 2007 to 2020.Key Findings and Insights
Research Implications and Outlook
This study is the first to systematically reveal the high healthcare resource use and economic burden of NF1 at a provincial level, highlighting the urgent need for multidisciplinary collaborative care models. The findings that socioeconomic factors significantly affect service access suggest health systems must address health equity, especially in remote and low-income populations. Results support strengthening transition services for NF1 patients from pediatric to adult care and improving identification and management capacity in primary care. Additionally, the high rate of disability benefit receipt indicates a significant impact on patients’ labor force participation, requiring complementary social support policies.
Future research should further explore the primary reasons for hospitalization among NF1 patients to identify high-risk, potentially preventable complications, and evaluate the impact of evidence-based guideline implementation on healthcare utilization and outcomes. Long-term follow-up is also needed to capture the true impact of NF1 on mortality, and deeper analysis of non-economic factors (e.g., education, transportation, psychological) influencing healthcare decisions is warranted. This study provides methodological guidance for similar real-world studies in other countries and offers key cost parameters for pharmacoeconomic evaluations.
Conclusion
This study, through long-term follow-up analysis of 1,210 NF1 patients and 6,050 matched controls in Ontario, systematically characterizes the disease burden of NF1 in terms of healthcare resource utilization and costs. It reveals that NF1 patients use emergency, hospital, specialist, and primary care services significantly more than the general population, with medical expenditures nearly three times higher than controls, and over 17% of patients relying on disability benefits. These results underscore the sustained pressure that NF1, as a multisystem disorder, places on the healthcare system. Notably, living in rural areas and lower income levels are associated with higher emergency use and lower outpatient service utilization, highlighting issues of healthcare accessibility inequity. Although no significant difference in all-cause mortality was observed—possibly due to the relatively young cohort age—the higher comorbidity burden and mortality risk scores suggest long-term prognosis remains concerning. Overall, this study provides robust evidence for optimizing comprehensive management pathways for NF1 patients, strengthening multidisciplinary collaboration, improving transitional care, and developing equitable health policies, emphasizing that socioeconomic factors must be integrated into the overall framework of NF1 health management.
