Neuromielitis optica
Diagnostyka i diagnoza

Neuromielitis optica (NMO), czyli choroba Devica, to rzadkie autoimmunologiczne schorzenie ośrodkowego układu nerwowego, które atakuje głównie nerwy wzrokowe i rdzeń kręgowy. Diagnostyka opiera się na kryteriach IPND z 2015 roku, które uwzględniają obecność przeciwciał AQP4-IgG (obecnych u 70-80% pacjentów), obraz kliniczny oraz wyniki MRI. Charakterystyczne cechy MRI to długoodcinkowe poprzeczne zapalenie rdzenia (LETM) obejmujące ≥3 segmenty kręgowe oraz zmiany w nerwach wzrokowych i podwzgórzu. W PMR obserwuje się wysoką pleocytozę (>50 leukocytów/μl) i brak prążków oligoklonalnych, co odróżnia NMO od stwardnienia rozsianego (SM). Diagnostyka różnicowa jest kluczowa, gdyż leczenie NMOSD różni się od SM, a niektóre leki stosowane w SM mogą nasilać objawy NMO.

Diagnostyka neuromielitis optica (NMO)

Neuromielitis optica (NMO), znana również jako choroba Devica, jest rzadkim autoimmunologicznym schorzeniem ośrodkowego układu nerwowego, które wpływa głównie na nerwy wzrokowe i rdzeń kręgowy. Właściwa diagnoza NMO ma kluczowe znaczenie, ponieważ pozwala odróżnić ją od stwardnienia rozsianego (SM) i innych zaburzeń demielinizacyjnych, co umożliwia wdrożenie odpowiedniego leczenia12.

Kryteria diagnostyczne NMOSD

W 2015 roku Międzynarodowy Panel Diagnostyczny NMO (International Panel for NMO Diagnosis, IPND) opracował zaktualizowane kryteria diagnostyczne dla zaburzeń ze spektrum neuromyelitis optica (NMOSD). Kryteria te uwzględniają status serologiczny przeciwciał przeciwko akwaporynie-4 (AQP4-IgG), obraz kliniczny oraz wyniki badań neuroobrazowych34.

Kryteria diagnostyczne różnią się w zależności od obecności przeciwciał AQP4-IgG:5

  • NMOSD z obecnością przeciwciał AQP4-IgG:
    • Co najmniej jedna główna cecha kliniczna
    • Pozytywny wynik testu na obecność AQP4-IgG (preferowana metoda oparta na komórkach)
    • Wykluczenie alternatywnych rozpoznań
  • NMOSD bez przeciwciał AQP4-IgG lub o nieznanym statusie AQP4-IgG:
    • Co najmniej dwie główne cechy kliniczne występujące w wyniku jednego lub więcej ataków klinicznych
    • Co najmniej jedna z tych cech musi być zapaleniem nerwu wzrokowego, ostrym zapaleniem rdzenia z długoodcinkowym poprzecznym zapaleniem rdzenia (LETM) lub zespołem area postrema
    • Rozsiew w przestrzeni (dwie lub więcej różnych głównych cech klinicznych)
    • Spełnienie dodatkowych wymagań MRI, jeśli dotyczy
    • Negatywny wynik testu AQP4-IgG lub test niedostępny
    • Wykluczenie alternatywnych rozpoznań

67

Główne cechy kliniczne NMOSD

Do głównych cech klinicznych NMOSD należą:8

  • Zapalenie nerwu wzrokowego (optic neuritis)
  • Ostre zapalenie rdzenia kręgowego (acute myelitis)
  • Zespół area postrema: epizod niewyjaśnionych czkawek, nudności lub wymiotów
  • Ostry zespół pnia mózgu
  • Objawowa narkolepsja lub ostry zespół kliniczny podwzgórza z typowymi dla NMOSD zmianami w MRI podwzgórza
  • Objawowy zespół mózgowy z typowymi dla NMOSD zmianami w mózgu

Badania diagnostyczne w neuromyelitis optica

Badania krwi i przeciwciała

Badania krwi mają kluczowe znaczenie w diagnostyce NMOSD. Najważniejszym markerem jest obecność przeciwciał przeciwko akwaporynie-4 (AQP4-IgG)9. Przeciwciała te są obecne u około 70-80% pacjentów z NMOSD i mają wysoką swoistość dla tej choroby. Wykrycie AQP4-IgG pomaga odróżnić NMOSD od SM i umożliwia wczesne rozpoznanie1011.

W przypadku negatywnego wyniku testu na AQP4-IgG u pacjenta z typowymi objawami NMOSD, test powinien zostać powtórzony po 3-6 miesiącach od pierwszego oznaczenia12. Należy pamiętać, że przeciwciała AQP4-IgG mogą spaść poniżej wykrywalnego poziomu podczas terapii ostrego ataku (dożylne metyloprednizolon lub plazmafereza) lub terapii zapobiegającej atakom (leki immunosupresyjne)13.

U pacjentów z podejrzeniem NMOSD należy również przeprowadzić badania na obecność przeciwciał przeciwko glikoproteinie mieliny oligodendrocytów (MOG-IgG). Wśród pacjentów seronegatywnych dla AQP4-IgG, około 20% może być pozytywnych dla MOG-IgG, co definiuje stan jako chorobę związaną z MOG-IgG (MOGAD)14.

Badania obrazowe (MRI)

Rezonans magnetyczny (MRI) jest niezbędnym narzędziem w diagnostyce NMOSD. Badanie to powinno obejmować mózg, nerwy wzrokowe i rdzeń kręgowy15. Charakterystyczne cechy NMOSD w badaniu MRI to:16

  • Długoodcinkowe poprzeczne zapalenie rdzenia (LETM) obejmujące co najmniej 3 segmenty kręgowe – najbardziej specyficzna neuroobrazowa cecha NMOSD
  • Zmiany w nerwach wzrokowych, często z zajęciem połowy długości nerwu lub skrzyżowania nerwów wzrokowych
  • Zmiany w podwzgórzu, obszarze postrema lub okolicach okołokomorowych
  • W mózgu zmiany często nie są typowe dla SM, i tylko 10-20% pacjentów z NMOSD ma zmiany spełniające kryteria Barkhof’a dla SM

1718

Dodatkowe wymagania MRI dla NMOSD bez AQP4-IgG lub o nieznanym statusie AQP4-IgG obejmują:19

  • Ostre zapalenie nerwu wzrokowego: wymaga MRI mózgu pokazującego prawidłowe wyniki lub tylko niespecyficzne zmiany w istocie białej, LUB MRI nerwu wzrokowego z hiperintensywną zmianą w obrazach T2-zależnych lub wzmacniającą się po gadolinie zmianą obejmującą ponad 1/2 długości nerwu wzrokowego lub zajmującą skrzyżowanie nerwów wzrokowych
  • Ostre zapalenie rdzenia: wymaga śródrdzeniowej zmiany w MRI rozciągającej się na co najmniej 3 ciągłe segmenty (LETM) LUB 3 lub więcej ciągłych segmentów ogniskowego zaniku rdzenia kręgowego u pacjentów z historią zgodną z ostrym zapaleniem rdzenia
  • Zespół area postrema: wymaga powiązanych zmian w grzbietowej części rdzenia przedłużonego/area postrema
  • Ostry zespół pnia mózgu: wymaga przyokołokomorowych zmian w pniu mózgu

Badanie płynu mózgowo-rdzeniowego

Badanie płynu mózgowo-rdzeniowego (PMR) za pomocą nakłucia lędźwiowego (punkcji lędźwiowej) jest pomocne w diagnostyce NMOSD i odróżnieniu jej od SM20. W NMOSD płyn mózgowo-rdzeniowy może wykazywać:21

  • Bardzo wysoki poziom komórek białych (pleocytoza) podczas ataków NMOSD, wyższy niż poziom zazwyczaj obserwowany w SM, chociaż ten objaw nie zawsze występuje
  • Brak prążków oligoklonalnych, które są obecne u ponad 85% pacjentów z SM
  • Pleocytoza przewyższająca 50 leukocytów/μl, co jest rzadkie u pacjentów z SM

22

IPND uważa brak prążków oligoklonalnych w PMR za dowód potwierdzający NMOSD, a ich obecność za sugestywny znak SM23.

Badania okulistyczne

Ze względu na częste zajęcie nerwów wzrokowych w NMOSD, badania okulistyczne mogą być pomocne w diagnostyce24:

  • Optyczna koherentna tomografia (OCT) – ocenia warstwę włókien nerwowych siatkówki i jej grubość. Pacjenci z zapaleniem nerwów wzrokowych w przebiegu NMOSD mają bardziej rozległą utratę wzroku i ścieńczenie włókien nerwowych siatkówki niż osoby z SM25
  • Badanie przez okulistę lub neuro-okulistę może wykryć subtelne objawy zapalenia nerwu wzrokowego

Rola testów na przeciwciała przeciwko akwaporynie-4 (AQP4-IgG)

Wykrywanie przeciwciał AQP4-IgG jest kluczowym elementem diagnostyki NMOSD. Istnieje kilka metod wykrywania tych przeciwciał:2627

  • Testy oparte na komórkach (CBA, Cell-Based Assay) – najbardziej zalecane przez międzynarodowe kryteria diagnostyczne z 2015 roku. Istnieją dwa rodzaje CBA:
    • Live-CBA (żywe komórki) – ma większą dokładność, ale wymaga większej wiedzy specjalistycznej
    • Fixed-CBA (utrwalone komórki) – szerzej i łatwiej stosowany, lecz mniej czuły
  • Metoda cytometrii przepływowej (FACS-assay) – może mieć wyższą czułość niż CBA i dostarczać wyniki ilościowe. Czułość i swoistość testu FACS dla NMO wynosi >80% i >99%28
  • Pośrednia immunofluorescencja (IIF) – pierwszy test do identyfikacji NMO-IgG, może być przydatny jako narzędzie przesiewowe
  • Test ELISA – ma stosunkowo niską dokładność w porównaniu z innymi metodami

Dodatni wynik testu AQP4-IgG jest zgodny z rozpoznaniem NMOSD i uzasadnia rozpoczęcie odpowiedniej terapii immunosupresyjnej jak najwcześniej29. Ujemny wynik testu AQP4-IgG wskazuje na brak przeciwciał AQP4, ale nie wyklucza rozpoznania NMOSD; inne kryteria kliniczne mogą potwierdzać diagnozę30.

Różnicowanie NMOSD i stwardnienia rozsianego

Różnicowanie NMOSD od stwardnienia rozsianego (SM) jest kluczowe, ponieważ leczenie tych schorzeń jest odmienne, a niektóre leki stosowane w SM mogą nasilać objawy NMOSD3132. Poniżej przedstawiono główne różnice, które pomagają odróżnić NMOSD od SM:33

  • Obraz MRI:
    • NMOSD: zajęcie kilku (zwykle 3) ciągłych segmentów rdzenia kręgowego, rzadkie zmiany w istocie białej mózgu, charakterystyczna morfologia i dystrybucja zmian
    • SM: typowo zajęcie pojedynczego segmentu rdzenia, charakterystyczne zmiany w istocie białej mózgu
  • Przeciwciała:
    • NMOSD: obecność przeciwciał AQP4-IgG u około 70-80% pacjentów
    • SM: brak specyficznych przeciwciał
  • Płyn mózgowo-rdzeniowy:
    • NMOSD: wysoka pleocytoza, rzadkie prążki oligoklonalne (około 30% przypadków)
    • SM: umiarkowana pleocytoza, częste prążki oligoklonalne (ponad 85% przypadków)
  • Przebieg kliniczny:
    • NMOSD: rzuty są zazwyczaj cięższe, z gorszym powrotem do zdrowia
    • SM: rzuty często mniej nasilone, z lepszym powrotem do zdrowia

Postępowanie po diagnozie NMOSD

Po zdiagnozowaniu NMOSD kluczowe jest wdrożenie odpowiedniego leczenia. Chociaż NMOSD nie jest uleczalne, istnieją metody leczenia, które mogą zmniejszyć częstość i nasilenie rzutów oraz złagodzić objawy34.

Leczenie NMOSD zazwyczaj obejmuje:3536

  • Leczenie ostrego rzutu:
    • Kortykosteroidy (leczenie steroidami) – zazwyczaj dożylny metyloprednizolon
    • Plazmafereza (usuwanie przeciwciał z krwioobiegu) – często stosowana, jeśli leczenie steroidami jest nieskuteczne
  • Zapobieganie dalszym rzutom – najczęściej stosowane leki immunosupresyjne:
    • Azatiopryna (nazwa handlowa: Immuran)
    • Mykofenolan (nazwa handlowa: CellCept)
    • Rytuksymab (nazwa handlowa: Rituxan)
    • W 2019 i 2020 roku FDA zatwierdziła trzy nowe leki dla AQP4-IgG-pozytywnych pacjentów z NMOSD: ekulizumab (Soliris), inebilizumab (Uplizna) i satralizumab

Wczesne i odpowiednie leczenie NMOSD ma kluczowe znaczenie dla zapobiegania trwałemu uszkodzeniu układu nerwowego i niepełnosprawności37.

Wnioski

Diagnostyka neuromielitis optica (NMO) wymaga kompleksowego podejścia, obejmującego badanie neurologiczne, testy serologiczne na obecność przeciwciał AQP4-IgG, badania obrazowe MRI oraz analizę płynu mózgowo-rdzeniowego. Kryteria diagnostyczne IPND z 2015 roku stanowią podstawę do rozpoznania NMOSD, różnicując pacjentów z obecnością i bez obecności przeciwciał AQP4-IgG38.

Wczesna i dokładna diagnoza ma kluczowe znaczenie dla właściwego leczenia NMOSD, ponieważ terapie stosowane w stwardnieniu rozsianym mogą być nieskuteczne lub nawet szkodliwe dla pacjentów z NMOSD. Wdrożenie odpowiedniego leczenia immunosupresyjnego może znacznie poprawić rokowanie i jakość życia pacjentów z NMOSD39.

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  1. 13.04.2026
  2. www.leksykon.com.pl

Materiały źródłowe

  • #1 Neuromyelitis optica – Diagnosis and treatment – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/neuromyelitis-optica/diagnosis-treatment/drc-20375655
    Diagnosing neuromyelitis optica involves a physical exam and tests. Part of the diagnosis process is to rule out other nervous system conditions that have similar symptoms. Healthcare professionals also look for symptoms and test results linked to NMO. Criteria to diagnose neuromyelitis optica spectrum disorder (NMOSD) were proposed in 2015 by the International Panel for NMO Diagnosis. […] A healthcare professional reviews your medical history and symptoms and does a physical exam. Other tests include: […] Blood tests. A healthcare professional might test the blood for the autoantibody that binds to proteins and causes NMO. The autoantibody is called aquaporin-4-immunoglobulin G, also known as AQP4-IgG. Testing for this autoantibody can help healthcare professionals distinguish between NMO and MS and make an early diagnosis of NMO.
  • #2 Neuromyelitis Optica (NMO): What It Is, Symptoms & Treatment
    https://my.clevelandclinic.org/health/diseases/9858-neuromyelitis-optica-nmo
    Neuromyelitis optica (NMO) is a rare chronic condition that affects your eyesight and your ability to move. Its an autoimmune disorder, meaning it happens because your immune system mistakenly attacks parts of your central nervous system. […] One of the most important differences between multiple sclerosis (MS) and NMO is that some test methods can confirm if a person has it. A healthcare provider can diagnose NMO using a combination of the following: […] Blood tests. One of the most important tools for healthcare providers to diagnose NMO is testing your blood for AQP4 or MOG antibodies. […] Magnetic resonance imaging (MRI) scans. MRI scans are especially helpful in identifying NMO. This condition causes changes to your spinal cord and other parts of your central nervous system that an MRI scan can detect.
  • #3 International consensus diagnostic criteria for neuromyelitis optica spectrum disorders
    https://pmc.ncbi.nlm.nih.gov/articles/PMC4515040/
    Neuromyelitis optica (NMO) is an inflammatory CNS syndrome distinct from multiple sclerosis (MS) that is associated with serum aquaporin-4 immunoglobulin G antibodies (AQP4-IgG). […] The International Panel for NMO Diagnosis (IPND) was convened to develop revised diagnostic criteria using systematic literature reviews and electronic surveys to facilitate consensus. […] The new nomenclature defines the unifying term NMO spectrum disorders (NMOSD), which is stratified further by serologic testing (NMOSD with or without AQP4-IgG). […] The core clinical characteristics required for patients with NMOSD with AQP4-IgG include clinical syndromes or MRI findings related to optic nerve, spinal cord, area postrema, other brainstem, diencephalic, or cerebral presentations. […] More stringent clinical criteria, with additional neuroimaging findings, are required for diagnosis of NMOSD without AQP4-IgG or when serologic testing is unavailable.
  • #4 Neuromyelitis Optica Spectrum Disorders | Choose the Right Test
    https://arupconsult.com/content/neuromyelitis-optica
    Neuromyelitis optica spectrum disorders (NMOSDs) are immune-mediated chronic and often relapsing inflammatory diseases that target the optic nerve and spinal cord. […] A neuromyelitis optica spectrum disorder (NMOSD) diagnosis is based on core clinical characteristics, antibody status, and features as detected by magnetic resonance neuroimaging. […] Laboratory testing involves determining aquaporin-4 receptor (AQP4) IgG and myelin oligodendrocyte glycoprotein (MOG) IgG serum antibody status; the presence of AQP4 or MOG IgG is confirmatory for NMOSDs in the appropriate clinical setting. […] In 2015, the International Panel for NMO Diagnosis (IPND) released updated NMOSD diagnostic criteria for adult patients. […] The criteria allow for diagnosis with the detection of at least one of six core clinical characteristics and AQP4 IgG antibodies.
  • #5 International consensus diagnostic criteria for neuromyelitis optica spectrum disorders
    https://pmc.ncbi.nlm.nih.gov/articles/PMC4515040/
    The IPND established several goals, chief of which was developing revised consensus NMOSD criteria using the best available evidence. […] The Panel reaffirmed the decision to unify the terms NMO and NMOSD. […] Given the greater degree of diagnostic uncertainty and potential heterogeneity of seronegative NMOSD, criteria were developed for both NMOSD with AQP4-IgG and NMOSD without AQP4-IgG. […] Diagnostic requirements are more stringent for patients in whom AQP4-IgG is not detected or for whom testing is unavailable. […] The Panel reached several additional conclusions. […] The presence of systemic autoimmune diseases and certain CSF data and pathologic findings may also influence NMOSD likelihood. […] The Pediatric Working Group members noted that most clinical, neuroimaging, and laboratory characteristics of pediatric NMOSD are similar to those of adult-onset disease.
  • #6 NMOSD | Neuromyelitis Optica Spectrum Disorder | Diagnosis | SRNA
    https://wearesrna.org/living-with-myelitis/disease-information/neuromyelitis-optica-spectrum-disorder/diagnosis/
    The IPND also stated that the characteristics of pediatric NMOSD are similar to adult NMOSD, and the proposed criteria can generally be used in this population, although they note that a LETM lesion is not as specific for NMOSD in children as it is in adults because LETM can occur in 15% of children with MS and can occur in ADEM. […] They recommend that someone be considered to have monophasic NMOSD only after they have been relapse free for five or more years, but those who are AQP4-IgG positive should be considered to be at high risk for recurrence regardless of the length of time between attacks. A test for anti-MOG should be done as well. […] Diagnostic criteria for NMOSD with AQP4-IgG: At least 1 core clinical characteristic, Positive test for AQP4-IgG using best available detection method (cell-based assay strongly recommended), Exclusion of alternative diagnoses.
  • #7 NMOSD | Neuromyelitis Optica Spectrum Disorder | Diagnosis | SRNA
    https://wearesrna.org/living-with-myelitis/disease-information/neuromyelitis-optica-spectrum-disorder/diagnosis/
    Diagnostic criteria for NMOSD without AQP4-IgG or unknown AQP4-IgG status: At least 2 core clinical characteristic occurring as a result of one or more clinical attacks and meeting all of the following requirement: At least 1 core clinical characteristic must be optic neuritis, acute myelitis with LETM, or area postrema syndrome, Dissemination in space (two or more core clinical characteristics), Fulfillment of additional MRI requirements, as applicable, Negative test for AQP4-IgG using best available detection method, or testing unavailable, Exclusion of alternative diagnoses. […] Core clinical characteristics: Optic neuritis, Acute myelitis, Area postrema syndrome: episode of otherwise unexplained hiccups or nausea and vomiting, Acute brainstem syndrome, Symptomatic narcolepsy or acute diencephalic clinical syndrome with NMOSD-typical diencephalic MRI lesions, Symptomatic cerebral syndrome with NMOSD-typical brain lesions.
  • #8 NMOSD | Neuromyelitis Optica Spectrum Disorder | Diagnosis | SRNA
    https://wearesrna.org/living-with-myelitis/disease-information/neuromyelitis-optica-spectrum-disorder/diagnosis/
    Diagnostic criteria for NMOSD without AQP4-IgG or unknown AQP4-IgG status: At least 2 core clinical characteristic occurring as a result of one or more clinical attacks and meeting all of the following requirement: At least 1 core clinical characteristic must be optic neuritis, acute myelitis with LETM, or area postrema syndrome, Dissemination in space (two or more core clinical characteristics), Fulfillment of additional MRI requirements, as applicable, Negative test for AQP4-IgG using best available detection method, or testing unavailable, Exclusion of alternative diagnoses. […] Core clinical characteristics: Optic neuritis, Acute myelitis, Area postrema syndrome: episode of otherwise unexplained hiccups or nausea and vomiting, Acute brainstem syndrome, Symptomatic narcolepsy or acute diencephalic clinical syndrome with NMOSD-typical diencephalic MRI lesions, Symptomatic cerebral syndrome with NMOSD-typical brain lesions.
  • #9 Neuromyelitis optica – Diagnosis and treatment – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/neuromyelitis-optica/diagnosis-treatment/drc-20375655
    Diagnosing neuromyelitis optica involves a physical exam and tests. Part of the diagnosis process is to rule out other nervous system conditions that have similar symptoms. Healthcare professionals also look for symptoms and test results linked to NMO. Criteria to diagnose neuromyelitis optica spectrum disorder (NMOSD) were proposed in 2015 by the International Panel for NMO Diagnosis. […] A healthcare professional reviews your medical history and symptoms and does a physical exam. Other tests include: […] Blood tests. A healthcare professional might test the blood for the autoantibody that binds to proteins and causes NMO. The autoantibody is called aquaporin-4-immunoglobulin G, also known as AQP4-IgG. Testing for this autoantibody can help healthcare professionals distinguish between NMO and MS and make an early diagnosis of NMO.
  • #10 Neuromyelitis Optica (NMO) | Conditions | UCSF Benioff Children’s Hospitals
    https://www.ucsfbenioffchildrens.org/conditions/neuromyelitis-optica
    Certain detectable markers in the blood can indicate NMO. […] For this test, also known as a spinal tap, the doctor inserts a needle into the lower back and withdraws a sample of cerebrospinal fluid (CSF), the substance that bathes, cushions and protects the brain and spinal cord. […] An ophthalmologist examines your child’s eyes to check for optic nerve damage. […] This measures the electrical activity in areas of the brain and spinal cord in response to certain stimuli. By indicating how well nerve signals reach the brain, the test can allow doctors to detect nerve damage that isn’t yet apparent during a physical exam.
  • #11 What is Neuromyelitis Optica Spectrum Disorder (NMOSD)?
    https://www.nmosdwontstopme.com/what-is-nmosd
    Neuromyelitis optica spectrum disorder (NMOSD), also known as Devics disease, is a rare and debilitating autoimmune disease caused by inflammation in the central nervous system (the optic nerve, brain stem and spinal cord). […] NMOSD can be difficult to diagnose and is often mistaken for multiple sclerosis (MS). […] Specific testing for the antibodies causing the inflammation that led to NMOSD attacks can aid in diagnosis and help determine treatment options. […] Request a blood test for anti-aquaporin-4 (AQP4-IgG) antibodies with your doctor to confirm that you have NMOSD. […] If antibodies against AQP4 are found in your blood, it will confirm you have NMOSD and not MS. […] AQP4 antibodies are present in up to 80% of NMOSD cases, so testing for this antibody is essential to receiving a diagnosis.
  • #12 Update on diagnosis and treatment of neuromyelitis optica spectrum disorders (NMOSD) — recommendations of Section of Multiple Sclerosis and Neuroimmunology of Polish Neurological Society | Zakrzewska-Pniewska | Neurologia i Neurochirurgia Polska
    https://journals.viamedica.pl/neurologia_neurochirurgia_polska/article/view/100945
    In the case of negative serological test results for AQP4-IgG in a patient with typical NMOSD symptoms, the test should be repeated 36 months after the first determination. […] A comprehensive differential diagnosis should be performed in patients with symptomatology typical of NMOSD with imaging findings (MRI) suggestive of MS. […] In NMOSD, MRI should be performed according to a standard and reproducible protocol applied in the diagnostic process and follow-up of the disease course and activity. […] The 2015 diagnostic criteria are still valid. […] An MRI scan of the spinal cord should be performed in patients with suspected NMOSD before and after contrast administration. […] In patients with optic neuritis and suspected NMOSD, orbital MRI, including T1-weighted sequences before and after contrast administration, should be taken into consideration. […] The diagnosis should be made according to the 2015 criteria.
  • #13 NMOFS – Overview: Neuromyelitis Optica (NMO)/Aquaporin-4-IgG Fluorescence-Activated Cell Sorting (FACS) Assay, Serum
    https://www.mayocliniclabs.com/test-catalog/overview/38324
    AQP4-IgG antibodies may drop below detectable levels in setting of therapies for acute attack (IV methylprednisolone or plasmapheresis) or attack prevention (immunosuppressants). […] The sensitivity and specificity of Fluorescence-Activated Cell Sorting (FACS) assay for NMO is >80% and >99%, respectively.
  • #14 Recent Advances on the Diagnosis and Management of Seronegative Neuromyelitis Optica Spectrum Disorder – touchNEUROLOGY
    https://touchneurology.com/neuroimmunology/journal-articles/recent-advances-on-the-diagnosis-and-management-of-seronegative-neuromyelitis-optica-spectrum-disorder/
    The therapeutic response to treatments approved for AQP4-IgG-positive NMOSD, such as inebilizumab and satralizumab, also seems to be less clear in seronegative cases, indicating that distinct disease mechanisms may be associated with these patients. […] The diagnostic criteria for NMOSD have evolved over the last decades. In 2015, the International Panel for NMO Diagnosis published the current diagnostic criteria, which defined the disease groups based on the positivity for AQP4-IgG. […] However, even with the use of the best cell-based assays (CBAs) for AQP4-IgG, some patients with clinical symptoms compatible with NMOSD are still seronegative. […] In addition, some of these patients who were AQP4-IgG seronegative were positive for another antibody (around 20%), targeting the myelin oligodendrocyte glycoprotein (MOG-IgG), which defines the condition as MOG-IgG-associated disease (MOGAD).
  • #15 Neuromyelitis Optica Spectrum Disorder (NMOSD) | OHSU
    https://www.ohsu.edu/brain-institute/neuromyelitis-optica-spectrum-disorder-nmosd
    An MRI (magnetic resonance imaging) to look for damage to your optic nerves, spinal cord and brain. […] A spinal tap (lumbar puncture) to examine the fluid surrounding your spinal cord and brain for signs of NMOSD. […] Blood tests to look for the AQP4-IgG antibody, which is present in about 70% of NMOSD cases. […] If you test positive for AQP4-IgG, your doctor may diagnose NMOSD if you have at least one of the following: Inflammation of your optic nerve (optic neuritis). […] If you test negative for AQP4-IgG, you will be diagnosed with NMOSD only if you have optic neuritis or transverse myelitis and one other NMOSD symptom.
  • #16 Neuromyelitis Optica – EyeWiki
    https://eyewiki.org/Neuromyelitis_Optica
    AQP4 antibody serum levels are not only specific to NMO, but also correlate with the degree of disease activity. Testing of AQP4 is recommended during an acute attack and before starting immunosuppressive therapy. […] An MRI demonstrating specific lesion patterns is an important factor in NMOSD diagnosis. Certain brain, optic nerve, and spinal cord patterns are characteristic of NMOSD and detection of a LETM spinal cord lesion associated with acute myelitis is the most specific neuroimaging characteristic of NMOSD. […] The International consensus diagnostic criteria for NMOSD details neuroimaging characteristics of NMOSD.
  • #17 Neuromyelitis Optica Spectrum Disorder (NMOSD) – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK572108/
    NMOSD is evaluated by clinical examination, serologic testing for the AQP4-IgG, and MRI with (and without) gadolinium. Diagnosis is based on core clinical characteristics and supplemented by additional testing. The international consensus diagnostic criteria were established in 2015, separating NMOSD into AQP4-IgG status (with testing, without testing, or unknown) and defining clinical and MRI characteristics of NMOSD. […] MRI with and without gadolinium can assist in the evaluation of NMOSD. Characteristic findings in optic neuritis include white matter lesions and optic nerve enhancement (T2-hyperintense lesions or T1-weighted contrast-enhancing images). Other MRI manifestations of NMOSD include acute myelitis, showing longitudinal intramedullary lesions or focal spinal cord atrophic segments.
  • #18 NMOSD | Neuromyelitis Optica Spectrum Disorder | Diagnosis | SRNA
    https://wearesrna.org/living-with-myelitis/disease-information/neuromyelitis-optica-spectrum-disorder/diagnosis/
    Additional MRI requirements for NMOSD without AQP4-IgG or unknown AQP4-IgG status: Acute optic neuritis: requires brain MRI showing normal findings or only nonspecific white matter lesions, OR optic nerve MRI with T2-hyperintense lesion or T1-weighted gadolinium-enhancing lesion extending over 1/2 optic nerve length or involving optic chiasm. […] Acute myelitis: requires associated intramedullary MRI lesion extending over 3 or more contiguous segments (LETM) OR 3 or more contiguous segments of focal spinal cord atrophy in patients with history compatible with acute myelitis. […] Area postrema syndrome: requires associated dorsal medulla/area postrema lesions. […] Acute brainstem syndrome: requires associated periependymal brainstem lesions.
  • #19 International panel for NMO diagnosis criteria | Radiology Reference Article | Radiopaedia.org
    https://radiopaedia.org/articles/international-panel-for-nmo-diagnosis-criteria-1?embed_domain=external.radpair.com%2527%255B0%255D%2527%255B0%255D&lang=us
    Core clinical characteristics include optic neuritis, acute myelitis, area postrema syndrome, acute brainstem syndrome, symptomatic narcolepsy or acute diencephalic clinical syndrome with NMOSD-typical diencephalic lesions on MRI, and symptomatic cerebral syndrome with NMOSD-typical brain lesions. […] Additional imaging (MRI) requirements for NMOSD without AQP4-IgG + and NMOSD with an unknown AQP4-IgG status include acute optic neuritis, acute myelitis requiring associated intramedullary MRI lesion extending over more than 3 contiguous segments (LETM) or more than 3 contiguous segments of focal spinal cord atrophy in patients with a history compatible with acute myelitis, area postrema syndrome requiring associated dorsal medulla/area postrema lesions, and acute brainstem syndrome requiring associated periependymal brain lesions.
  • #20 Neuromyelitis optica – Diagnosis and treatment – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/neuromyelitis-optica/diagnosis-treatment/drc-20375655
    Lumbar puncture, also known as a spinal tap. During this test, a healthcare professional inserts a needle into the lower back to remove a small amount of spinal fluid. This test determines the levels of immune cells, proteins and antibodies in the fluid. This test might distinguish NMO from MS. […] The spinal fluid might show a very high level of white blood cells during NMO episodes. This is greater than the level usually seen in MS, although this symptom doesn’t always happen. […] Optical coherence tomography. This test looks at the retinal nerve fiber layer and its thickness. Patients with inflamed optic nerves from NMO have more-extensive vision loss and retinal nerve thinning than do people with MS.
  • #21 Neuromyelitis Optica Spectrum Disorders | Choose the Right Test
    https://arupconsult.com/content/neuromyelitis-optica
    AQP4 IgG antibody detection is confirmatory for NMOSDs in the appropriate clinical setting. […] The absence of AQP4 antibodies does not rule out the diagnosis of NMOSD because false-negative results may occur in the setting of immunosuppression. […] CSF analysis can help to distinguish NMOSDs from MS by showing an absence of oligoclonal bands, or, in a small number of patients, a prominent pleocytosis during relapse that may be neutrophil predominant. […] The IPND considers the absence of CSF oligoclonal bands as supportive evidence for NMOSD and the presence of these bands a suggestive sign of MS.
  • #22
    https://link.springer.com/article/10.1007/s00415-023-11634-0
    AQP4-IgG testing is recommended in all patients with clinical or clinico-radiological findings that would permit the diagnosis of NMOSD with positive AQP4-IgG serostatus in the case of a positive test result according to the IPND criteria. […] In all other cases, the decision on whether or not to test for AQP4-IgG testing should be made individually; however, broad, unselected screening of patients with MS that do not meet the above-mentioned criteria is discouraged. […] Analysis of cerebrospinal fluid (CSF) is not formally required to make a diagnosis of NMOSD according to the current diagnostic criteria; however, we strongly recommend lumbar puncture in patients with suspected NMOSD, since CSF analysis can support a diagnosis of NMOSD and help to distinguish the disorder from MS and other differential diagnoses.
  • #23 Neuromyelitis Optica Spectrum Disorders | Choose the Right Test
    https://arupconsult.com/content/neuromyelitis-optica
    AQP4 IgG antibody detection is confirmatory for NMOSDs in the appropriate clinical setting. […] The absence of AQP4 antibodies does not rule out the diagnosis of NMOSD because false-negative results may occur in the setting of immunosuppression. […] CSF analysis can help to distinguish NMOSDs from MS by showing an absence of oligoclonal bands, or, in a small number of patients, a prominent pleocytosis during relapse that may be neutrophil predominant. […] The IPND considers the absence of CSF oligoclonal bands as supportive evidence for NMOSD and the presence of these bands a suggestive sign of MS.
  • #24 Neuromyelitis Optica: Symptoms, Causes, Treatment, and More
    https://www.webmd.com/brain/neuromyelitis-optica
    Your doctor will examine you and check your thinking, vision, speech, strength, and reflexes. They may want to test fluid from your spine and your blood. More than 70% of people who have NMO have a certain protein in their blood called an antibody. […] Your doctor also may want to look at your spine to see if it’s inflamed. One way to do that is with a test called an MRI (magnetic resonance imaging). It uses a large magnet and a computer to create an image of your spinal cord. […] You also might need to see a doctor who specializes in treating eyes (ophthalmologist) and have an optical coherence tomography (OCT) to check for damage to the optic nerve.
  • #25 Neuromyelitis optica – Diagnosis and treatment – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/neuromyelitis-optica/diagnosis-treatment/drc-20375655
    Lumbar puncture, also known as a spinal tap. During this test, a healthcare professional inserts a needle into the lower back to remove a small amount of spinal fluid. This test determines the levels of immune cells, proteins and antibodies in the fluid. This test might distinguish NMO from MS. […] The spinal fluid might show a very high level of white blood cells during NMO episodes. This is greater than the level usually seen in MS, although this symptom doesn’t always happen. […] Optical coherence tomography. This test looks at the retinal nerve fiber layer and its thickness. Patients with inflamed optic nerves from NMO have more-extensive vision loss and retinal nerve thinning than do people with MS.
  • #26 Diagnosing and Managing Neuromyelitis Optica
    https://www.uspharmacist.com/article/diagnosing-and-managing-neuromyelitis-optica
    AQP-4 Ab is a disease-specific autoantibody to NMO/NMOSD and is rarely found in other neurologic conditions. […] As a part of the diagnosic criteria, determining AQP-4 Abs status is needed when available and utilization of appropriate assay are essential. […] Testing of AQP-4 Abs can predict long-term prognosis as well as therapeutic response. […] Indirect immunofluorescence (IIF), enzyme-linked immunosorbent assay (ELISA), cell-based assay (CBA), and flow cytometry assay (FACS-assay) are used for antibody level detection. […] CBAs are strongly recommended based on the 2015 international consensus diagnostic criteria. […] The IIF was the first assay to identify NMO-IgG and can be useful as a screening tool for diverse antibodies at a relatively low cost. […] The ELISA has a relatively low accuracy compared with the others.
  • #27 Diagnosing and Managing Neuromyelitis Optica
    https://www.uspharmacist.com/article/diagnosing-and-managing-neuromyelitis-optica
    There are two types of CBAs, live and prefixed. […] The live-CBA has higher accuracy compared with fixed-CBA but requires more expertise, which may limit its use compared with the more widely and easily used fixed-CBA. […] If one of the two CBAs results does not match the clinical or radiological signs and symptoms, it is recommended to retest the sample with the other. […] In some cases, the FACS-assay can yield higher sensitivity than CBAs and supply the fixed-CBA or even the live-CBA. […] The FACS-assay could also be advantageous in that it can yield quantitative results and a cutoff discriminator.
  • #28 NMOFS – Overview: Neuromyelitis Optica (NMO)/Aquaporin-4-IgG Fluorescence-Activated Cell Sorting (FACS) Assay, Serum
    https://www.mayocliniclabs.com/test-catalog/overview/38324
    AQP4-IgG antibodies may drop below detectable levels in setting of therapies for acute attack (IV methylprednisolone or plasmapheresis) or attack prevention (immunosuppressants). […] The sensitivity and specificity of Fluorescence-Activated Cell Sorting (FACS) assay for NMO is >80% and >99%, respectively.
  • #29 NMOFS – Overview: Neuromyelitis Optica (NMO)/Aquaporin-4-IgG Fluorescence-Activated Cell Sorting (FACS) Assay, Serum
    https://www.mayocliniclabs.com/test-catalog/Overview/38324
    A positive value is consistent with a neuromyelitis optica spectrum disorder (NMOSD) and justifies initiation of appropriate immunosuppressive therapy at the earliest possible time. […] AQP4-IgG antibodies may drop below detectable levels in setting of therapies for acute attack (IV methylprednisolone or plasmapheresis) or attack prevention (immunosuppressants). […] Clinical sensitivity of AQP4 FACS was superior to the other assay types. […] Overall, M1-AQP4-FACS was 83% sensitive for NMO compared with 75% for M23-AQP4-FACS.
  • #30 Neuromyelitis Optica Spectrum Disorders: Laboratory Support of Diagnosis and Management | Clinical Focus | Quest Diagnostics Cutaneous Melanoma: Laboratory Support of Diagnosis and Management Cutaneous Melanoma: Laboratory Support of Diagnosis and Man
    https://testdirectory.questdiagnostics.com/test/test-guides/CF_NMOSD/neuromyelitis-optica-spectrum-disorders-laboratory-support-of-diagnosis-and-management
    Diagnostic criteria for NMOSD are organized based on the presence or absence of AQP4 antibody. For AQP4 antibody–positive patients, diagnosis requires the presence of at least 1 core clinical characteristic and the exclusion of alternative diagnoses. […] A positive result for AQP4-IgG antibody is consistent with a diagnosis of NMOSD if at least 1 clinical characteristic is present and alternative diagnoses are excluded. A negative result for AQP4-IgG antibody indicates the absence of AQP4 antibodies but does not rule out a diagnosis of NMOSD; other clinical criteria can be met to confirm a diagnosis. […] A positive result for MOG antibody supports a diagnosis of MOGAD if at least 1 clinical characteristic is present (ADEM, optical neuritis, transverse myelitis, or brain or brainstem syndrome compatible with demyelination) and alternative diagnoses are excluded.
  • #31 Neuromyelitis Optica Spectrum Disorder (NMOSD) – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK572108/
    When MRI lesions show enhancement in the optic nerves and spinal cord, the main differential diagnosis of NMOSD is MS. It is important to distinguish these clinical entities as the prognosis and management differ considerably, and some MS drugs can worsen NMOSD. […] The differential diagnosis of a patient with optic neuritis typically includes MS, NMOSD, and MOGAD. MS is the most common of these entities and should be ruled out first. The clinician should be especially aware of the other 2 conditions, as they typically portend a less favorable prognosis and require different treatment. […] NMOSD has a variable course and prognosis. This condition is either relapsing (80% to 90%) or monophasic. Some patients suffer from a chronic disability as a result of relapsing episodes. Study results have demonstrated that up to 22% of patients fully recover, while 7% do not show any recovery. Individuals with relapsing NMOSD have a worse prognosis. […] Complications of NMOSD include visual field defects and motor impairment, with potential blindness and irreversible motor deficits. In severe cases, myogenic respiratory failure is the cause of increased mortality.
  • #32 What is Neuromyelitis Optica Spectrum Disorder (NMOSD)?
    https://www.nmosdwontstopme.com/what-is-nmosd
    Its important to talk about NMOSD symptoms and testing, because NMOSD and MS have different treatments. […] Some MS treatments can make NMOSD symptoms worse, so its important to get an accurate diagnosis and explore the right treatment options. […] This resource has been reviewed by members of SRNAs Medical and Scientific Council to provide an overview of NMOSD, signs and symptoms, diagnosis, prognosis and more.
  • #33 Neuromyelitis Optica Spectrum Disorder (NMOSD) – Neurologic Disorders – MSD Manual Professional Edition
    https://www.msdmanuals.com/professional/neurologic-disorders/demyelinating-disorders/neuromyelitis-optica-spectrum-disorder-nmosd
    Neuromyelitis optica spectrum disorder causes acute optic neuritis, sometimes bilateral, plus demyelination of the cervical or thoracic spinal cord. […] Diagnosis of neuromyelitis optica spectrum disorder usually includes brain and spinal cord MRI and visual evoked potentials. […] The following features help distinguish neuromyelitis optica from multiple sclerosis (MS): Neuromyelitis optica affects several (typically 3) contiguous spinal segments of the spinal cord, whereas MS typically affects a single segment. […] On MRI, cerebral white matter lesions are uncommon in neuromyelitis optica, unlike in MS. […] On MRI, morphology and distribution of the lesions differ from those in MS. […] Visual evoked potentials can help differentiate neuromyelitis optica from other optic neuropathies.
  • #34 Neuromyelitis Optica (NMO): What It Is, Symptoms & Treatment
    https://my.clevelandclinic.org/health/diseases/9858-neuromyelitis-optica-nmo
    NMO isnt curable, but thanks to continuing research, this condition is treatable. Because NMO is an autoimmune condition, the main treatments take two forms: acute treatment and long-term management. […] NMO happens unpredictably and for reasons that healthcare providers still dont fully understand. Because of this, theres no way to prevent it or reduce your risk of developing it. […] NMO is manageable, and your healthcare provider will help guide you on how to take care of yourself.
  • #35 Frequently Asked Questions About Neuromyelitis Opticamail2
    https://guthyjacksonfoundation.org/nmo-faqs/
    How do clinicians treat NMO? At present, treatment of NMO is targeted at two facets of the disease: Control tissue inflammation and damage at onset or during relapse. Prevent further tissue damage by reducing the frequency of relapse. […] What are the treatments for NMO relapses? Acute NMO relapses or attacks are often treated with: – Corticosteroids (steroid treatment) – Plasmapheresis (the removal of antibodies from the blood stream) Plasmapheresis is often used if steroid treatment is ineffective. Some clinicians use plasmapheresis on a limited scale in cases where patients show poor tolerance for other agents used to prevent relapses. […] How are NMO relapses prevented? The most common immunosuppressive agents used by NMO specialists to prevent NMO relapses include: Azathioprine (trade name, Immuran; oral). Mycophenolate (trade name, CellCept; oral). Rituximab (trade name, Rituxan; intravenous infusion) Relapse prevention medications can be very helpful but may not be 100% effective.
  • #36 Frequently Asked Questions About Neuromyelitis Opticamail2
    https://guthyjacksonfoundation.org/nmo-faqs/
    Do clinicians prefer one drug treatment over another? As with many aspects of medicine, neurologists including NMO specialists may have certain preferences for one treatment regimen over another. Selection of a treatment regimen depends on many individual factors such as symptoms, disease severity, whether the treatment is well-tolerated, cost, and other factors. […] Do these treatments have dangerous side effects? As with the treatment of any disease, certain NMO treatments can have side effects, including serious adverse events such as infection. However, recent reports suggest that treatment efficacy is improving, and the benefits far outweigh the negative side effects in preventing or resolving severe attacks. It is always best to consult with your physician and/or an NMO specialist to determine which treatment regimen may be best for you.
  • #37 Neuromyelitis optica Information | Mount Sinai – New York
    https://www.mountsinai.org/health-library/diseases-conditions/neuromyelitis-optica
    Neuromyelitis optica (NMO) is a disorder of the central nervous system. NMO causes inflammation and damage to the optic nerve and spinal cord. […] Various tests are needed to distinguish NMO from other central nervous system diseases such as multiple sclerosis. […] You may have a blood test to detect aquaporin-4 (AQP4) antibodies or myelin oligodendrocyte glycoprotein (MOG) antibodies. The presence of these antibodies in the blood is a specific sign of NMO and can help distinguish it from MS. […] There is no cure for NMO. Treatment is focused on relieving symptoms, preventing damage, and preventing attacks long-term. […] Early diagnosis and timely treatment with immunosuppressive drugs improve the outlook. Medicines and therapies can ease the symptoms and people with NMO may live for many years.
  • #38
    https://link.springer.com/article/10.1007/s00415-023-11634-0
    MRI examinations are an essential part of the clinical workup for diagnosis and monitoring of NMOSD. […] The initial MRI serves as an important baseline examination and shall cover both the brain and the spinal cord. […] MRI is also essential for distinguishing NMOSD from other CNS conditions. […] The diagnosis of NMOSD should be made according to the 2015 IPND criteria.
  • #39 Neuromyelitis optica spectrum disorder | MedLink Neurology
    https://www.medlink.com/articles/neuromyelitis-optica-spectrum-disorders
    It should be noted that CSF testing for the anti-AQP4 antibody has less diagnostic sensitivity. […] Patients presenting with acute attacks of neuromyelitis optica spectrum disorder require urgent care. […] Treatment for neuromyelitis optica spectrum disorder is immediate and also long-term. […] Four mechanism-based drugs have been FDA approved for AQP4+ neuromyelitis optica spectrum disorder. […] Aggressive treatment at the onset of a relapse, including steroids, plasma exchange, and early initiation of prophylactic therapy, has led to better recovery and lower disability in patients with neuromyelitis optica spectrum disorder.