Diagnostic revisions in multiple sclerosis
Abstract
Objectives: The diagnostic criteria for inflammatory demyelinating diseases of the central nervous system have evolved over the past years. Close follow up and accurate multiple sclerosis (MS) diagnosis are key to optimal treatment. We retrospectively reviewed the patients who had a diagnostic revision. Methods: The medical records of patients referred to our MS clinic (Centro Hospitalar Universitário de São João, Porto, Portugal) (n = 635) between 2009 and 2016 were reviewed. A total of 62 patients were identified, 44 were misdiagnosed with MS; 18 had another diagnosis, later redefined as MS. A total of 44 controls (with MS diagnosis) were matched to the 44 misdiagnosed cases, and a statistical analysis was carried out to determine the predictors of misdiagnosis. Results: The mean age of our population (n = 44) was 51 ± 11 years; 77% were women. The mean duration of misdiagnosis was 13 years. Optic neuritis was the most frequent presenting symptom (25%), followed by spinal cord syndrome and non‐specific neurological symptoms (20% each). The most frequent MS misdiagnoses were non‐specific white matter hyperintensities, optic neuritis and cerebrovascular disease. The mean Extended Disability Status Scale and Multiple Sclerosis Severity Score was 0 (SD 2) and 0.6 (SD 2), respectively, in the misdiagnosed group, and 3.5 (SD 5.4) and 3.2 (SD 5.6), respectively, in the control group. From all the variables analyzed, we found that the presence of black holes and spinal cord lesions were predictors of a correct MS diagnosis (P < 0,05). Conclusions: Our series underlines the need to continuously rethink an MS diagnosis and to thoughtfully use paraclinical tests (oligoclonal bands and magnetic resonance imaging) avoiding an unfounded diagnosis. The first event might not be atypical, as has been reported in other series.
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An additional recent study in 2020 in Portugal reported 44 misdiagnoses in 635 patients (7%) referred to an MS clinic between 2009 and 2016.
“An additional recent study in 2020 in Portugal reported 44 misdiagnoses in 635 patients (7%) referred to an MS clinic between 2009 and 2016 [36].”
From Functional neurological disorder and multiple sclerosis: a systematic review of misdiagnosis and clinical overlap (2022) · cites this paper as [36]
Of those 44, one had dissociative disorder and another fibromyalgia, and nine had non-specific MRI changes with unclear explanations for their symptoms.
“Of those, one had dissociative disorder and another fibromyalgia, and nine had non-specific MRI changes with unclear explanations for their symptoms.”
From Functional neurological disorder and multiple sclerosis: a systematic review of misdiagnosis and clinical overlap (2022) · cites this paper as [36]
Cites
Krupp, L. B., Tardieu, M., Amato, M. P., Banwell, B., Chitnis, T., Dale, R. C., Ghezzi, A., Hintzen, R., Kornberg, A., Pohl, D., et al. (2013) · Multiple Sclerosis Journal · doi:10.1177/1352458513484547 · Cited by 1,130 · see citing works
The contemporary spectrum of multiple sclerosis misdiagnosis
Solomon, A. J., Bourdette, D. N., Cross, A. H., Applebee, A., Skidd, P. M., Howard, D. B., Spain, R. I., Cameron, M. H., Kim, E., Mass, M. K., et al. (2016) · Neurology · doi:10.1212/wnl.0000000000003152 · Cited by 334 · see citing works
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Walzl, D., Solomon, A. J., & Stone, J. (2022) · Journal of Neurology · doi:10.1007/s00415-021-10436-6 · Cited by 62 · see citing works
- Authors
- de Seabra, M. M. L., Abreu, P. M. P., Mendonça, M. T. S., Reis, J. J. C. S., Sá, M. J. P. M., & Guimarães Ferreira Almeida, J. C.
- Affiliations
- Department of Neurology Centro Hospitalar de São João Porto Portugal
- Universidade do Porto (PT)
- Hospital de São João (PT)
- ORCID
- Abreu, Pedro M. P.
- Venue
- Clinical and Experimental Neuroimmunology
- Publisher
- Wiley
- Published
- 2020-05-13
- Volume
- 11
- Issue
- 3
- Pages
- 171-175
- ISSN
- 1759-1961 (ISSN-L)
- OpenAlex
- W3015392577
- Cited by
- 3
- References
- 2
- Citations by year
- 2024: 2 · 2021: 1
- FWCI
- 0.16
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Clinical and Experimental Neuroimmunology (publishedVersion)
- Topics
- Health Sciences › Medicine › Pathology and Forensic Medicine › Multiple Sclerosis Research Studies
- Health Sciences › Medicine › Family Practice › Clinical Reasoning and Diagnostic Skills
- Health Sciences › Medicine › Neurology › Peripheral Neuropathies and Disorders
- Keywords
- multiple sclerosis, misdiagnosis, diagnostic revision, diagnostic criteria, optic neuritis, black holes, spinal cord lesions, white matter hyperintensities, cerebrovascular disease, oligoclonal bands, magnetic resonance imaging, disability status
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