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Abstract Details

Impact of neurofibromatosis type 1 in an adult community population
General Neurology
P11 - Poster Session 11 (11:45 AM-12:45 PM)
2-001
Neurofibromatosis type 1 is among the most common tumor predisposition syndromes, with protean manifestations and variations in severity. Recognizing the potential for fragmented care for adult NF1 patients, we hypothesized that lack of medical home for adult NF1 patients corresponds with unmet care needs. 
We sought to characterize health and demographic features of a community-based population of adults with NF1.
We conducted a retrospective case-control study using an EMR-based search tool that identified all adult cases of NF1 among 4.06 million medical records in a Pacific Northwest population. 122 case charts were reviewed to ascertain NF1 disease features, comorbidities, and severity of disease. A 1:1 control cohort was selected by matching case/control by age, sex, and ZIP code to compare demographic features and health status.

By comparison with the controls, adult NF1 patients were less likely to have private insurance, less likely to be employed, equally likely to be married, and less likely to have children. One half of cases had disease features compromising health and well-being (Riccardi severity ≥ 3). NF1 patients received care for NF1-related problems from a total of 26 different specialties. Excluding neurofibromas, 43% of cases had cancer compared to 10% of controls [p<0.0001, OR 5.38(2.53-11.4)]. Behavioral health problems were found in 60% of NF1 patients compared to 37% of controls [p<0.001 , OR 2.61(1.52-4.50)]. Only 27% of women ages 30-50 had undergone age-appropriate enhanced breast cancer surveillance. 93% of cases referred to a dedicated adult NF1 center underwent a change in management upon establishing care.

NF1 patients often lack a medical home in which they receive coordinated management of care. Our data suggest a role for increasing access to dedicated adult NF1 centers, as well as empowering general adult neurologists to provide integrated services in an effort to optimize screening and coordination of specialties involved.

Authors/Disclosures
Timothy Gregory, MD (Madigan Army Medical Center)
PRESENTER
Dr. Gregory has nothing to disclose.
Gregory Phillips, Jr., MD (Landstuhl Regional Medical Center) Dr. Phillips has nothing to disclose.
John W. Henson, MD, FAAN No disclosure on file