The art of and importance of diagnosis

If you have NMO you don't want to be diagnosed as having MS. #MSBlog #MSResearch

"This study highlights how important it is to see an experienced clinician to get an accurate diagnosis. Neuromyelitis optica (NMO), or optico-spinal MS as it is called in Japan, often mimics MS when it presents. NMOers have optic neuritis and myelitis; these attacks are typically devastating with poor recovery, but not always. The treatment of NMO is very different to  that of MS; DMTs for MS typically make NMO worse. Therefore if you get the wrong diagnosis and the wrong treatment you will be in trouble."

"Please note that when this survey was done one-third of MSers had died from NMO; this mortality is very high. With modern treatments, none of which are licensed the mortality is usually lower than; i.e. steroids and azathioprine or mycophenolate, if that fails most of us use rituximab. You may find it interesting that we have no licensed treatments for NMO. This is because it is an orphan disease; too uncommon for large trials. This however may be changing with several pharma companies interested in developing treatments for NMO. Why? Money; the prices that can be charged for orphan drugs in the developed world are eye bogglingly large so watch this space."

"Another interesting observation about NMO is that despite it being a relapsing-remitting condition it is not associated with a secondary progressive phase of the disease. This tells us that SPMS must have ongoing pathology in addition to focal inflammatory events; in other words focal inflammatory events that recover are probably not the whole story when it comes to secondary progression. This is why it is so important to develop drugs that are neuroprotective in MS."


Epub: Papais-Alvarenga et al. The impact of diagnostic criteria for neuromyelitis optica in patients with MS: a 10-year follow-up of the South Atlantic Project.Mult Scler. 2013 Aug.

BACKGROUND: It is recognized that there is a particular geographic and ethnic distribution of neuromyelitis optica (NMO) among Caucasian and non-Caucasian populations.

OBJECTIVE: To review the diagnoses of NMOers whom were enrolled in the South Atlantic Project, a Brazilian multiple sclerosis (MS) survey performed from 1995-1998, and to identify NMO and MS case frequencies.

METHODS: They reviewed the data from a 10-year follow-up of MSers. To apply the current diagnostic criteria, the neurologists were asked to collect clinical and laboratory data from the medical records of study MSers treated from 1999-2009.

RESULTS: The spectrum of inflammatory demyelinating disease in 322 MSers (67% white; 33% African-Brazilian) was: 49 (15%) with NMO; 14 (4%) with NMO syndromes; 10 (3%) with acute disseminated encephalomyelitis (ADEM); one isolated tumefactive brain lesion; 249 (77%) with MS (151 with relapsing-remitting MS (RRMS), 70 with secondary progressive MS (SPMS) and 27 with primary progressive MS (PPMS)). Disability was more severe in NMO and PPMS. One-third of the NMOers had died.

CONCLUSIONS: The frequency of NMO was 6.8% in São Paulo and 20.5% in Rio de Janeiro, and mainly seen in persons of African descent, which strengthens the hypothesis of there being an ethnic association of this disease. We recommend that epidemiological studies on MS that were performed previously be reviewed again, to ensure more accurate diagnoses.


Other posts of interest:

25 Aug 2013
Michael BD, Elsone L, Griffiths MJ, Faragher B, Borrow R, Solomon T, Jacob A. Post-acute serum eosinophil and neutrophil-associated cytokine/chemokine profile can distinguish between patients with neuromyelitis optica ...
05 Sep 2013
BACKGROUND: Multiple sclerosis (MS) and neuromyelitis optica (NMO) occasionally have an extremely aggressive and debilitating disease course; however, its molecular basis is unknown. This study aimed to determine a ...
27 Apr 2013
Storoni M, Davagnanam I, Radon M, Siddiqui A, Plant GT. Distinguishing Optic Neuritis in Neuromyelitis Optica Spectrum Disease From Multiple Sclerosis: A Novel Magnetic Resonance Imaging Scoring System.
07 Mar 2013
Background. Brain lesions are common in neuromyelitis optica spectrum disorder (NMOsd) and may resemble lesions of multiple sclerosis (MS). Objectives. To describe the imaging characteristics of supratentorial lesions in ...

25 Jan 2013
RESULTS: The mean time interval between symptom onset and development of optic neuritis and myelitis was 39.9 months in neuromyelitis optica (NMO). About 40% of patients with limited NMO would have fulfilled the ...
20 Mar 2013
Epub: Matthews et al. Distinction of seropositive NMO spectrum disorder and MS brain lesion distribution. Neurology. 2013 Mar 13. OBJECTIVE: Neuromyelitis optica and its spectrum disorder (NMOSD) can present similarly ...
08 Aug 2013
Purpose: To compare the retinal layer thickness of eyes with optic neuritis (ON) and that of control eyes and ON eyes with and without neuromyelitis optica (NMO) or multiple sclerosis (MS). Methods: Horizontal and vertical ...
26 Sep 2012
BACKGROUND: Neuromyelitis optica (NMO) is a severe inflammatory demyelinating disease of the CNS in which a pathogenic role of anti-aquaporin-4 (AQP4) antibodies has been suggested. Although AQP4 is expressed in ...

17 Aug 2012
BACKGROUND: The effective treatment of neuromyelitis optica (NMO) with rituximab has suggested an important role for B cells in NMO pathogenesis. OBJECTIVE: To explore the antibody-independent function of B cells in ...
22 Nov 2012
METHODS: MTX (12 mg/m(2)) combined with methylprednisolone 1 g as three monthly courses followed by three quarterly courses was administered during an observational multicentre open study including 51 consecutive ...
30 May 2012
Varrin-Doyer et al. Aquaporin-4-specific T cells in neuromyelitis optica exhibit a Th17 bias and recognize Clostridium ABC transporter. Annal Neurol. 25 MAY 2012. Objective: Aquaporin-4 (AQP4)-specific autoantibodies in ...
18 Feb 2012
Kleiter et al. Failure of Natalizumab to Prevent Relapses in Neuromyelitis Optica.Arch Neurol. 2012 ;69:239-245. OBJECTIVE: To describe first experiences with the integrin inhibitor natalizumab, given to patients with ...

14 Apr 2012
METHODS: A total of 190 women with NMOSD were enrolled from 7 referral hospitals in 4 countries. The investigators reviewed medical records and used a structured questionnaire to investigate gravidity (number of ...
27 May 2012
There is little agreement amongst neuropathologists regarding the timing and nature of oligodendrocyte loss in MS. The oligodendrocyte is the cell that makes myelin or the insulation around nerve fibres. This review describes ...
17 Oct 2012
Neuromyelitis optica (NMO) is a chronic inflammatory disease of the CNS that is mediated, in part, by a self-reactive Ab against the astrocyte aquaporin-4 (AQ4) protein. In the current study, we examined the possibility and the ...
14 Aug 2012
Epub: Sinnecker et al. Distinct lesion morphology at 7-T MRI differentiates neuromyelitis optica from multiple sclerosis. Neurology. 2012 Aug 1. OBJECTIVE: To investigate distinct white matter and cortical gray matter ...

09 Dec 2011
"There are lessons here for both neurologists and MS'ers. (1) It is important to make the correct diagnosis of MS before starting treatment. (2) Fingolimod is unlikely to be effective in NMO. (3) NMO is a separate disease entity; ...

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