Rare neuro-immune disorders are challenging to diagnose and can often take months depending on the expertise of the medical facility and the presentation of the symptoms. There have been a few publications and presentations this year sharing research to better diagnose rare neuro-immune disorders.
Some of this TMA supported research was presented at the 70th American Academy of Neurology Annual Meeting, which was held from April 21-27 in Los Angeles, California..
Dr. Olwen Murphy, a current James T. Lubin Fellow, and a team at The Johns Hopkins Hospital presented research on pediatric myelopathies. They conducted a retrospective review of pediatric patients who were referred to the Johns Hopkins TM Center with a diagnosis of TM between 2010-2017. They reviewed the temporal profile of symptoms, clinical presentation, cerebrospinal fluid analysis and spinal cord magnetic resonance imaging of the patients to see if these characteristics were consistent with inflammatory myelopathies.
Maureen Mealy, also from the Johns Hopkins TM and NMO Centers and a member of the TMA Medical and Scientific Council, presented similar research that looked at 1000 patients who were referred to the Johns Hopkins TM Center between 2010 and 2017. They reviewed patients’ clinical/temporal profile, their neuroimaging, and laboratory findings to establish a final diagnosis. Differentiating between inflammatory and non-inflammatory causes of spinal cord damage can help improve diagnostic accuracy.
Dr. Murphy, Dr. Pardo, and Dr. Gailloud from Johns Hopkins University also presented research on a group of 100 patients with symptomatic low-flow spinal arteriovenous fistulas (SAVF). Low-flow SAVFs are the most common spinal vascular malformation and they can cause severe disability, including paraparesis, pain, bladder and sexual dysfunction. Most low-flow SAVFs can be treated, but they are frequently misdiagnosed, which can delay treatment. They identified clinical features that may help physicians identify this diagnosis.
Dr. Barerras and her colleagues from Johns Hopkins University TM Center published a study in which they analyzed the clinical presentation, spinal cord MRI findings, and cerebrospinal fluid (CSF) features of patients who were initially diagnosed with transverse myelitis. Their goal was to see how these characteristics may help differentiate inflammatory myelopathy from other causes of myelopathy.
Dr. Stacey L. Clardy at The University of Utah, one of the James T. Lubin Fellowship training sites, also presented research at AAN. Her team’s research focused on neuromyelitis optica spectrum disorder. This research aimed to determine the rate and characteristics of patients not meeting diagnostic criteria for neuromyelitis optica spectrum disorder who tested positive for autoantibodies to aquaporin 4 (AQP4). They found 48 patients in the University of Utah medical system who tested positive for AQP4, but only 20 of them met the clinical criteria for NMOSD. They argue that individuals should be tested for AQP4 multiple times to ensure patients do not receive false negative results.
Dr. Jonathan Galli, a James T. Lubin Fellow, worked with Dr. Clardy on another research study that aims to characterize patients with NMOSD in the Department of Defense (DoD) population. Their clinical characteristics matched other reports of individuals with NMOSD, except for the distribution between men and women, but this may be because of the characteristics of the DoD population as a whole.
We are hopeful that all this research and improved understanding will result in better, timely, and more accurate diagnosis which will improve the prognosis when someone is diagnosed with a rare neuro-immune disorder. For more on these publications click here.