Misdiagnosis of Multiple Sclerosis in Neuromyelitis Optica: Results from multi-institutional database analysis from the United States
Ka-Ho Wong1, Sama Noroozi Gilandehi1, Trieste Francis1, Alen Delic1, Sarah Germaine2, Melissa Wright2, Jonathan Galli2, Robert Kadish2, M. Paz Soldan2, Julia Klein3, John Greenlee2, John Rose4, Tammy Smith2, Stacey Clardy2
1U of U Neurology Clinic, 2University of Utah, 3University of Utah School of Medicine, 4Imaging and Neurosciences Center
Objective:
To ascertain the frequency of Neuromyelitis Optica Spectrum Disease (NMOSD) misdiagnosis as Multiple Sclerosis (MS), and thus related use of FDA-approved disease-modifying therapies (DMTs) for MS, in a national cohort.
Background:
NMOSD is an antibody-mediated inflammatory disease of the central nervous system (CNS) that targets the optic nerves, spinal cord, and certain brain regions. NMOSD patients may be misdiagnosed with the more common condition of MS, given some shared signs and symptoms. Misdiagnosed NMOSD patients may be exposed to certain MS DMTs that could potentially worsen the morbidity associated with NMOSD.
Design/Methods:
Preliminary de-identified aggregate data was obtained utilizing TriNetX, a federated health research network providing access to statistics on electronic medical records that included sixty-one health care organizations (HCOs) within the United States. Patients with the ICD-10 code of NMO (G36.0) were queried within the database from 2008 to 2022.
Results:
Of the 7768 NMO patients were identified from the TriNETX database, 75.0% were female (n=5826), the mean age (SD) was 49.1 (18.1) years, 53.0% were white (n=4,117), 27.0% (n=2097) were black, 3.0% were Asian (n=223), and the remain are unknown 17.0% (n= 1331). In the four Census Regions, we included 1750 patients from the Northeast, 1012 patients from the Midwest, 4048 from the South, and 872 from the West. Of all NMO patients, 44% (n=3,421) were diagnosed with MS at some point during their course, and 853 NMOSD patients received at least one FDA-approved MS therapy. Sensitive analysis will be completed on geographic variance based on the four censuses of misdiagnosis and prescribed FDA-approved MS DMTs.
Conclusions:
Many NMOSD patients were misdiagnosed with MS in this national population, and almost one-quarter of misdiagnosed patients were prescribed an FDA-approved MS DMT. An understanding of the specific characteristics of misdiagnosed NMOSD patients is warranted to better understand the factors increasing the risk of misdiagnosis.