Aquaporin-4 antibody seropositive neuromyelitis optica spectrum disorder [Neurosurgery Wiki]

This page is read only. You can view the source, but not change it. Ask your administrator if you think this is wrong.
====== Aquaporin-4 antibody seropositive neuromyelitis optica spectrum disorder ======

**Aquaporin-4 antibody seropositive neuromyelitis optica spectrum disorder (NMOSD)** is an autoimmune condition that primarily affects the central nervous system, causing inflammation and damage to the optic nerves and spinal cord. NMOSD was previously known as **Devic's disease**, and its hallmark feature is the presence of **aquaporin-4 (AQP4) antibodies**, which target the aquaporin-4 water channels on astrocytes in the central nervous system.

### **Pathophysiology**:
- The body produces **AQP4-IgG antibodies** that attack the aquaporin-4 channels on astrocytes, leading to astrocyte damage, inflammation, and demyelination.
- This results in damage to the optic nerves (causing optic neuritis), the spinal cord (causing transverse myelitis), and sometimes the brainstem or other parts of the brain.

### **Clinical Features**:
NMOSD often presents with:
1. **Optic Neuritis**: Inflammation of the optic nerve leading to pain, visual loss, and sometimes permanent vision impairment. It can be unilateral or bilateral.
2. **Transverse Myelitis**: Inflammation of the spinal cord causing motor, sensory, and autonomic dysfunction, often with severe paralysis, bladder dysfunction, or loss of sensation.
3. **Brainstem Symptoms**: Hiccups, nausea, vomiting, and respiratory failure may occur if the area postrema in the brainstem is affected.
4. **Other CNS Symptoms**: Seizures, altered consciousness, or movement disorders if other parts of the brain are involved.

### **Diagnosis**:
1. **Serology for Aquaporin-4 Antibodies**: The key diagnostic marker is the presence of **AQP4-IgG antibodies** in the blood. This is highly specific for NMOSD.
2. **MRI Imaging**:
   - Brain and spinal cord MRI typically show inflammation and lesions in the optic nerves, spinal cord (often extending over three or more vertebral segments), and possibly the brainstem.
   - Unlike multiple sclerosis, brain lesions are often less numerous.
3. **Cerebrospinal Fluid (CSF) Analysis**: Typically shows an increase in protein and white blood cells during acute attacks, but unlike multiple sclerosis, oligoclonal bands are less common.

### **Differentiation from Multiple Sclerosis (MS)**:
- **AQP4 antibodies** are specific to NMOSD, while MS lacks these antibodies.
- NMOSD tends to involve more severe, longer spinal cord lesions (extending over three or more vertebrae), while MS lesions are shorter.
- Relapses in NMOSD often cause more severe disability than in MS.
- MS typically shows more brain lesions on MRI, whereas NMOSD more commonly involves the spinal cord and optic nerves.

### **Treatment**:
The goals of NMOSD treatment are to manage acute attacks, prevent relapses, and mitigate long-term damage:
1. **Acute Attack Management**:
   - **High-Dose Intravenous Steroids**: Corticosteroids, such as methylprednisolone, are used to reduce inflammation during acute attacks.
   - **Plasma Exchange (PLEX)**: For patients who do not respond to steroids, plasma exchange may be used to remove harmful antibodies from the blood.
   
2. **Long-Term Immunosuppressive Therapy**:
   - **Rituximab**: A monoclonal antibody that targets B-cells, reducing the production of AQP4 antibodies.
   - **Azathioprine**: An immunosuppressant that helps prevent relapses.
   - **Mycophenolate Mofetil**: Another immunosuppressive drug used to reduce immune system activity.
   - **Eculizumab**: A complement inhibitor specifically approved for NMOSD in patients who are AQP4-IgG seropositive. It prevents immune-mediated damage by blocking the complement system.
   
3. **Symptom Management**:
   - **Physical therapy** and **occupational therapy** for mobility and functionality.
   - **Medications** for neuropathic pain, spasticity, and bladder dysfunction.

### **Prognosis**:
- NMOSD is typically **relapsing**, and each relapse can cause cumulative neurological damage.
- Early and aggressive treatment to prevent relapses is critical to reducing long-term disability.
- Patients with **AQP4-IgG antibodies** generally have a higher risk of relapses compared to seronegative individuals, making early diagnosis and treatment essential.

### **Research and Advances**:
Recent advances in understanding NMOSD have led to the development of targeted therapies (e.g., **eculizumab**), which specifically inhibit the immune pathways involved in NMOSD pathogenesis, improving patient outcomes.