EPID-28. Demographics and referral patterns of a program for adults with neurofibromatosis type 1

Abstract INTRODUCTION NF1 is a genetic disorder caused by alterations in the Neurofibromin1 (NF1) gene, affecting 1:3000 people, and characterized by skin changes, nerve sheath tumors, and central nervous system tumors. Few adult multidisciplinary clinics are available, making longitudinal care more difficult for the adult NF1 population, which has many medical needs. METHODS Clinical data was collected by retrospective chart review of 41 patients within the UCSD Adult NF1 Program, including patient demographics, genotype, phenotype, and functional independence. Low-income zip codes are defined as those with <80% of the median household income for San Diego County. Learning disabilities include the need for educational assistance or diagnosis of ADHD. RESULTS 41 patients were included, median age 30 at initial consultation (range 17-73), median age 5 at diagnosis (range 0-64, 17% diagnosed >/=18 yo).Referrals for 12.2%, 24.4%, 48.8%, and 14.6% of patients came from primary care, NF specialist, other specialist, or self (patient), respectively, with 51.2% having prior NF care. Socioeconomic analysis revealed 24.4% of patients reside in low-income zip codes, and insurance at the time of referral was public (46.3%) or private (53.7%). Patients had a spectrum of NF1-related complications, including plexiform neurofibroma (65.9%), brain/optic pathway tumors (19.5%), and learning disabilities (55%). 63.4% of patients are currently employed or in school and 12.2% receive disability payments CONCLUSIONS Adult patients with NF1 are a vulnerable and underserved population despite the high prevalence of NF1. This study highlights that many adults with NF1 have NF1-related complications and socioeconomic disparities with lifelong impacts, but many have not seen a NF1 specialist or had genetic testing. As increasing numbers of treatment options are approved for NF1-related disease such as MEK inhibitors, it will be crucial to improve access to adult multidisciplinary care.