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#Infografía
enero 2023

Introduction to Neuromyelitis Optica Spectrum Disorder (NMOSD)

enero 2023
​ Neuroscience
​

Disease overview

Gain an overview of the pathophysiology of NMOSD 

NMOSD is a rare, debilitating autoimmune disease of the CNS, characterized by lesions in the spinal cord, optic nerve, and brain stem

NMOSD is a heterogeneous disease, with a complex and multifaceted pathophysiology1,2

In NMOSD, symptoms are caused by immune-mediated demyelination and damage to axons in the spinal cord, optic nerve, and brain stem3–6

The exact mechanisms by which neurological injury occurs are not fully understood, but a number of inflammatory processes have been found to drive NMOSD disease activity7,8

CNS, central nervous system; NMOSD, neuromyelitis optica spectrum disorder.  

Summary

NMOSD is a rare, debilitating autoimmune disease of the CNS, characterized by inflammatory lesions primarily in the optic nerves and spinal cord9

NMOSD exists worldwide with a reported global prevalence of 1.8 per 100,000 people10

  • Patients typically present with NMOSD in their 30s–40s, but can be diagnosed in old age and in early childhood, and the disease is more common in non-Caucasian women11,1

NMOSD commonly presents as ON or TM, causing potentially severe motor and sensory impairment, bladder dysfunction, vision loss, pain, and other debilitating symptoms1,6,1,11,12

Patients with NMOSD generally experience a relapsing disease course, with frequent, severe relapses that can directly cause accumulating disability6,5

  • Preventing attacks and reducing symptoms are the foremost disease management priorities in NMOSD13

CNS, central nervous system; NMOSD, neuromyelitis optica spectrum disorder; ON, optic neuritis; TM, transverse myelitis. 

Referencias

  1. Guthy Jackson Foundation Patient Resource Guide (Third Edition). Available at: Link. Accessed September 2020.
  2. Weinshenker BG, Wingerchuk DM. Mayo Clin Proc 2017;92:663–679.
  3. Wingerchuk DM et al. Neurology 2015;85:177–189.
  4. Papadopoulos MC et al. Nat Rev Neurol 2014;10:493–506;
  5. Ghezzi A et al. J Neurol 2004;251:47–52;
  6. Wingerchuk DM et al. Lancet Neurol 2007;6:805–815;
  7. NMO UK. Neuromyelitis Optica. A guide to the condition. March 2012. Available at: Link. Accessed August 2020;
  8. Glisson GC. UpToDate® Review on Neuromyelitis Optica Spectrum Disorders (August 2020). Available at: Link. Accessed September 2020.
  9. Etemadifar M et al. Mult Scler Int 2015;2015:174720;
  10. Quek AML et al. Arch Neurol 2012;69:1039–1043;
  11. SRNA. Available at: Link. Accessed August 2020;
  12. Traboulsee A et al. Lancet Neurology 2020;19:402–412;
  13. Weinshenker BG et al. Neurology 2015;84:1805–1815.

Prevalence of NMOSD

Understand which individuals are more at risk based on their gender, ethnicity, and age

NMOSD has an estimated global prevalence of 1.82 per 100,000

  • NMOSD exists worldwide, but few studies have assessed the prevalence of NMOSD across different regions

  • A systematic review and meta-analysis of nine studies (covering 1993–2013) reported a global prevalence of NMOSD of 1.82 per 100,000

  • Prevalence of NMOSD is likely to be under-reported due to patients never receiving a diagnosis or being misdiagnosed with another auto-immune disorder

NMOSD, neuromyelitis optica spectrum disorder; NR, not reported. 
Etemadifar M et al. Mult Scler Int 2015;2015:174720.

NMOSD is more common among women than men, with female to male ratios ranging from approximately 1.8:1 to 21:11–12

  • It is worth noting that the female-to-male ratio in NMOSD is significantly affected by whether the patient has autoantibodies against aquaporin-4 (AQP4-IgG), which are present in at least two-thirds of patients with NMOSD – see module Pathophysiology of NMOSD and the Role of IL-6 for further details on AQP4-IgG
    • In AQP4-IgG-seropositive NMOSD, the female:male ratio is around 9:1, whereas in seronegative NMOSD, it is much lower – around 2:113

NMOSD, neuromyelitis optica spectrum disorder.  

While anyone can be diagnosed with NMOSD, the disease appears to be more common among non-Caucasian individuals

  • Recent studies suggest that, compared with Caucasian populations, people of Asian or African ancestry have a higher tendency to develop NMOSD14,15

Prevalence of NMOSD among Whites/Caucasians is around 1 in 100,00014

Among East Asians (Japanese, Chinese, Korean), the prevalence is around 3.5 in 100,00014

Prevalence of NMOSD in Black populations may be up to 10 in 100,00014

The majority of patients with NMOSD are diagnosed between 30─40 years of age

  • Patients typically present in their 30s,2,3,16,5,17,8,9,10 but can be diagnosed in old age (12%) and in early childhood (5%).18 Children are usually diagnosed between 10-14 years of age, although the disease can develop at any stage of childhood19

NMOSD, neuromyelitis optica spectrum disorder.  

Summary

NMOSD is a rare, debilitating autoimmune disease of the CNS, characterized by inflammatory lesions primarily in the optic nerves and spinal cord20

NMOSD exists worldwide with a reported global prevalence of 1.8 per 100,000 people21

  • Patients typically present with NMOSD in their 30s–40s, but can be diagnosed in old age and in early childhood, and the disease is more common in non-Caucasian women18,15

NMOSD commonly presents as ON or TM, causing potentially severe motor and sensory impairment, bladder dysfunction, vision loss, pain, and other debilitating symptoms20,15,22,23

Patients with NMOSD generally experience a relapsing disease course, with frequent, severe relapses that can directly cause accumulating disability20,24

  • Preventing attacks and reducing symptoms are the foremost disease management priorities in NMOSD25

CNS, central nervous system; NMOSD, neuromyelitis optica spectrum disorder; ON, optic neuritis; TM, transverse myelitis. 

Referencias

  1. Kuroiwa Y et al. Neurology 1975;25:845–851;
  2. Merle H et al. Opthalmology 2007;114:810–815;
  3. Cabre P et al. Rev Neurol (Paris) 2009;165:676–683;
  4. Cabrera-Gomez JA et al. J Neurol 2009;256:35–44;
  5. Asgari N et al. Neurology 2011;76:158901595;
  6. Cossburn M et al. Eur J Neurol 2012;19:655–659;
  7. Jacob A et al. J Neurol 2013;260:2134–2137;
  8. Domingos J et al. Clin Neurol Neurosurg 2015;134:79–84;
  9. Kashipazha D et al. Iran J Neurol 2015;14:204–210;
  10. Papais-Alvarenga RM et al. PLoS One 2015;10:p.e0127757;
  11. Seok JM et al. J Neurol Sci 2016;15:209–213;
  12. Pereira WL et al. Acta Neuropsychiatr 2017;29:170–178;
  13. Gold S et al. Semin Immunopathol 2019;41:177–188.
  14. Hor JY et al. Front Neurol 2020;11:501;
  15. Guthy Jackson Foundation Patient Resource Guide (Third Edition). Available at: Link. Accessed September 2020.
  16. Collongues N et al. Neurology 2010;74:736–742;
  17. Altintas O et al. Neurologist 2015;20:61–66;
  18. Quek AML et al. Arch Neurol 2012;69:1039–1043;
  19. Great Ormond Street Hospital NHS Trust. NMOSD. Available at: Link. Accessed August 2020;
  20. Wingerchuk DM et al. Lancet Neurol 2007;6:805–815;
  21. Etemadifar M et al. Mult Scler Int 2015;2015:174720;
  22. SRNA. Available at: Link. Accessed August 2020;
  23. Traboulsee A et al. Lancet Neurology 2020;19:402–412;
  24. Ghezzi A et al. J Neurol 2004;251:47–52;
  25. Weinshenker BG et al. Neurology 2015;84:1805–1815.

Clinical characteristics of NMOSD

Learn the hallmark symptoms and characteristics of NMOSD, along with the most common pattern of disease progression

NMOSD most commonly presents as optic neuritis or transverse myelitis

  • Six core NMOSD clinical characteristics have been defined, including optic neuritis and transverse myelitis20

*Study retrospectively evaluated 292 Chinese AQP4-IgG-positive patients diagnosed with NMO/NMOSD based on the 2006 NMO and 2015 NMOSD diagnostic criteria.
†As transverse myelitis;
‡With NMOSD-typical diencephalic MRI lesions. AQP4-IgG, aquaporin-4 immunoglobulin G; MRI, magnetic resonance imaging; NMO, neuromyelitis optica; NMOSD, neuromyelitis optica spectrum disorder. 

Optic neuritis and transverse myelitis associated with NMOSD can cause a wide range of signs and symptoms

  • Characteristic symptoms include potentially severe motor and sensory impairment, vision loss, fatigue, and pain3-5

NMOSD patients with ON can present with:

  • Retrobulbar (behind the eye) pain and/or pain on eye movement6
  • Disturbed color vision, including color desaturation6
  • Visual impairment that often persists for an extended duration and can be permanent7-10
  • Acute ON attack-related functional blindness in one or both eyes6

NMOSD patients with TM can present with:

  • Leg and/or arm muscle weakness11
  • Altered limb sensations (pins and needles, numbness)11
  • Bladder and bowel problems11
  • Back or limb pain11

NMOSD, neuromyelitis optica spectrum disorder; ON, optic neuritis; TM, transverse myelitis. 

In addition to the characteristic symptoms, patients with NMOSD can present with disease-typical MRI features

Reproduced from Dutra BG et al. 2018.

MRI, magnetic resonance imaging; NMOSD, neuromyelitis optica spectrum disorder. Dutra BG et al. Radiographics 2018;38:169–193

NMOSD shares a number of clinical features with multiple sclerosis, but has a different disease course

  • Unlike MS, patients with NMOSD experience an accumulation of neurological disability that is almost exclusively associated with relapses12,13
  • 5 years after disease onset, neurological disability may be significantly more severe in patients with NMOSD vs MS13

MS, multiple sclerosis; NMOSD, neuromyelitis optica spectrum disorder. 

Summary

NMOSD is a rare, debilitating autoimmune disease of the CNS, characterized by inflammatory lesions primarily in the optic nerves and spinal cord14

NMOSD exists worldwide with a reported global prevalence of 1.8 per 100,000 people15

  • Patients typically present with NMOSD in their 30s–40s, but can be diagnosed in old age and in early childhood, and the disease is more common in non-Caucasian women16,17

NMOSD commonly presents as ON or TM, causing potentially severe motor and sensory impairment, bladder dysfunction, vision loss, pain, and other debilitating symptoms14,17.3.4

Patients with NMOSD generally experience a relapsing disease course, with frequent, severe relapses that can directly cause accumulating disability14,18

  • Preventing attacks and reducing symptoms are the foremost disease management priorities in NMOSD19

CNS, central nervous system; NMOSD, neuromyelitis optica spectrum disorder; ON, optic neuritis; TM, transverse myelitis. 

Referencias

  1. Wingerchuk DM et al. Neurology 2015;85:177–189;
  2. Long Y et al. Front Neurol 2017;28;8:62.
  3. SRNA. Available at: Link. Accessed September 2020;
  4. Traboulsee A et al. Lancet Neurology 2020;19:402–412;
  5. Seok JM et al. PLoS One 2017;12:e01772303;
  6. Jarius S et al. J Neuroinflammation 2016;13:280;
  7. Seok JM et al. J Neurol Sci 2016;368:209–213;
  8. Kitley J et al. Brain 2012;135:1834–1849;
  9. Collongues N et al. Neurology 2010;74:736–742;
  10. Bizzoco E et al. J Neurol 2009;256:1891–1898;
  11. NMO UK. Neuromyelitis Optica. A guide to the condition. March 2012. Available at: Link. Accessed August 2020.
  12. Kawachi I et al. J Neurol Neurosurg Psychiatry 2017;88:137–145;
  13. Akaishi T et al. Sci Rep 2020;10:13890.
  14. Wingerchuk DM et al. Lancet Neurol 2007;6:805–815;
  15. Etemadifar M et al. Mult Scler Int 2015;2015:174720;
  16. Quek AML et al. Arch Neurol 2012;69:1039–1043;
  17. Guthy Jackson Foundation Patient Resource Guide (Third Edition). Available at: Link. Accessed September 2020;
  18. Ghezzi A et al. J Neurol 2004;251:47–52;
  19. Weinshenker BG et al. Neurology 2015;84:1805–1815.

The role of relapses in NMOSD 

Understand the risks associated with NMOSD relapses 

 

Patients with NMOSD generally experience a relapsing disease course, with frequent, severe relapses that can directly cause accumulating disability

  • Following the first (onset) attack, up to 90% of patients with NMOSD show an episodic relapsing disease course – of these, up to 60% relapse within 1 year; 90% within 3 years1,2
  • A relapse is typically defined as any attack (i.e. worsening of neurological symptoms) that takes place after the first (onset) attack
  • Preventing relapses and reducing the impact of NMOSD-associated symptoms are, therefore, the foremost disease management priorities3

NMOSD
disease course4

CNS, central nervous system; NMO, neuromyelitis optica; NMOSD, neuromyelitis optica spectrum disorder. 

A single NMOSD relapse can cause permanent neurological damage and disability

  • Most relapses of NMOSD worsen over several days, then improve slowly, but often incompletely, over weeks or months2
  • Successive relapses are associated with accumulating disability, reflected by increasing EDSS scores, due to the frequency and severity of attacks2,5
  • Predictors of a worse prognosis include the number of relapses in the first 2 years of disease activity, and the severity of the relapse2,7
    • Relapses that result in an increase in EDSS of ≤2.5 have a nearly two-fold better chance of complete recovery compared with those with a severity of ≥3.07

Within 5 years, 50% of patients with NMOSD require the use of a wheelchair and 62% of patients are blind6

EDSS, Expanded Disability Status Scale; NMOSD, neuromyelitis optica spectrum disorder. 

Patients with NMOSD have reduced life expectancy, with death often attributable to a relapse

  • As diagnosis and treatment has developed, mortality has been shown in contemporary studies to be considerably improved (6–15%)1,8,9 versus older landmark studies (21–32%)10-12

  • However, even with low duration of disease, mortality rates are still a concern1,8-12

Mortality rates in studies of NMOSD1,8-12

*Total study population.
†Population with African ancestry NMOSD, neuromyelitis optica spectrum disorder

AQP4 autoantibodies are a specific NMOSD disease marker, while the pathophysiology of seronegative disease remains unclear

Over two-thirds of patients have been shown to have detectable serum antibodies that target AQP4-IgG, which are highly + specific for clinically diagnosed NMOSD13,14

This means that up to one third of patients with NMOSD are AQP4-IgG seronegative14,15

The underlying pathophysiology of seronegative disease is heterogenous and may represent a group of diseases with similar clinical presentation, but with distinct underlying pathophysiologies13,16–18

Some AQP4-IgG seronegative patients may have autoantibodies against MOG-IgG (discussed in Module 1.8),13,16–18 and are known to have different clinical outcomes to AQP4-seropositive NMOSD13,15,16

AQP4, aquaporin-4; AQP4-IgG, aquaporin-4 immunoglobulin G; MOG, myelin oligodendrocyte glycoprotein; NMOSD, neuromyelitis optica spectrum disorder. 

Summary

NMOSD is a rare, debilitating autoimmune disease of the CNS, characterized by inflammatory lesions primarily in the optic nerves and spinal cord2

NMOSD exists worldwide with a reported global prevalence of 1.8 per 100,000 people19

  • Patients typically present with NMOSD in their 30s–40s, but can be diagnosed in old age and in early childhood, and the disease is more common in non-Caucasian women20,21

NMOSD commonly presents as ON or TM, causing potentially severe motor and sensory impairment, bladder dysfunction, vision loss, pain, and other debilitating symptoms2,21-23

Patients with NMOSD generally experience a relapsing disease course, with frequent, severe relapses that can directly cause accumulating disability2,5

  • Preventing attacks and reducing symptoms are the foremost disease management priorities in NMOSD3

CNS, central nervous system; NMOSD, neuromyelitis optica spectrum disorder; ON, optic neuritis; TM, transverse myelitis. 

Referencias

  1. Kitley J et al. Brain 2012;135:1834–1849;
  2. Wingerchuk DM et al. Lancet Neurol 2007;6:805–815;
  3. Weinshenker BG et al. Neurology 2015;84:1805–1815.
  4. Kawachi I et al. J Neurol Neurosurg Psychiatry 2017;88:137–145;
  5. Ghezzi A et al. J Neurol 2004;251:47–52;
  6. Kessler RA et al. Neurol Neuroimmunol Neuroinflamm 2016;3:e269;
  7. Banerjee A et al. Mult Scler Relat Disord 2019;28:60–63.
  8. Jarius S et al. J Neuroinflammation 2012;9:14;
  9. Mealy MA et al. Neurol Neuroimmunol Neuroinflamm 2018;5:e468;
  10. Wingerchuk DM et al. Neurology 1999;53:1107–1114;
  11. Wingerchuk DM et al. Neurology 2003;60:848–853;
  12. Cabre P et al. J Neurol Neurosurg Psychiatry 2009;80:1162–1164;
  13. Wingerchuk DM et al. Neurology 2015;85:177–189;
  14. Lennon VA et al. Lancet 2004;364:2106–2112;
  15. Höftberger R et al. Mult Scler 2015;21:866–874;
  16. Papadopoulos MC et al. Nat Rev Neurol 2014;10:493–506;
  17. Reindl M et al. Nat Rev Neurol 2013;9:455–461;
  18. Mader S et al. Neuroinflammation 2011;8:184.
  19. Etemadifar M et al. Mult Scler Int 2015;2015:174720;
  20. Quek AML et al. Arch Neurol 2012;69:1039–1043;
  21. Guthy Jackson Foundation Patient Resource Guide (Third Edition). Available at: Link. Accessed September 2020;
  22. SRNA. Available at: Link. Accessed August 2020;
  23. Traboulsee A et al. Lancet Neurology 2020;19:402–412;
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