Myelodysplastic Syndromes

Diagnosis

A healthcare professional reviews your symptoms and medical history and may perform a physical exam to check for signs of myelin oligodendrocyte glycoprotein antibody–associated disease, known as MOGAD.

MOGAD is usually diagnosed after two important findings are confirmed. First, symptoms must be caused by a typical type of attack, such as optic neuritis, transverse myelitis, or acute disseminated encephalomyelitis. Second, the MOG antibody must be detected in the blood or spinal fluid.

These findings are confirmed using specific diagnostic procedures:

MOG antibody testing
This test is performed using a cell-based assay that looks for MOG antibodies in the blood by examining cells that contain MOG on their surface. It is considered the gold standard for diagnosing MOGAD. However, false-positive results can occur, especially when symptoms are not typical or resemble other diseases such as multiple sclerosis.

Spinal tap
Also called a lumbar puncture, this procedure collects a small sample of cerebrospinal fluid for testing. The test can show an elevated white blood cell count, which indicates inflammation and is common in MOGAD. It may also look for oligoclonal bands, which are more often found in multiple sclerosis and can help distinguish between the two conditions.

Imaging tests
MRI scans of the brain, spinal cord, and optic nerves may be ordered. These scans can reveal lesions in the brain or spinal cord and show inflammation of the optic nerves.

Eye examination
An eye test called optical coherence tomography may be used. This test measures the layers of the retina. During optic neuritis, the retina may be thicker than normal. After repeated episodes, thinning of the retina may occur due to nerve damage.

MOG antibody testing is not always precise. Some healthy individuals or people with other medical conditions may have low levels of MOG antibodies. Your healthcare team carefully interprets test results to make sure another condition is not responsible for your symptoms.

Treatment

There is no cure for MOGAD. Treatment focuses on speeding recovery from attacks, managing symptoms, and reducing the risk of future relapses. You and your healthcare team work together to develop a treatment plan based on your symptoms and overall health.

Treatments for attacks

MOGAD attacks are often severe and require prompt treatment to improve recovery. Treatment options may include:

Corticosteroids
These medicines reduce inflammation in the nervous system and can rapidly improve symptoms. They are typically given in high doses by mouth or through an IV. Possible side effects include sleep problems, mood changes, increased blood pressure, high blood sugar levels, and fluid retention.

Plasma exchange
This procedure removes plasma from the blood to eliminate MOG antibodies. The remaining blood cells are combined with a protein solution and returned to the body. Plasma exchange may be used when symptoms are severe, newly developed, or do not improve with corticosteroids.

IV immune globulin
Also called IVIG, this treatment uses donated antibodies to neutralize MOG antibodies and reduce inflammation. IVIG also suppresses immune activity and may help prevent future attacks. This treatment is more commonly used in children.

Treatments for symptoms

Managing ongoing symptoms can help improve comfort and daily function after an attack. Treatment options may include:

Antiseizure medicines
Some people with MOGAD experience seizures. These medicines help reduce seizure frequency and prevent recurrence.

Therapies
Physical therapy and occupational therapy can help restore strength, movement, and coordination after attacks that cause weakness, stiffness, or paralysis.

Other medicines
Additional medications may be prescribed to manage pain, fatigue, bowel and bladder problems, and erectile dysfunction related to MOGAD.

Treatments to prevent attacks

Because MOGAD is a recently identified condition, no proven long-term prevention treatments currently exist. However, clinical trials are ongoing to identify effective options.

Preventive treatment is usually considered only for people who experience multiple attacks, referred to as relapsing MOGAD. These treatments suppress the immune system to reduce the risk of future attacks but may increase the risk of other illnesses. Prevention therapy is often started after a second attack or after a first attack if it caused severe or permanent damage.

Prevention treatment options may include:

Oral immunosuppressants
Medicines such as azathioprine, mycophenolate mofetil, and prednisone suppress the immune response to reduce myelin damage. These medicines may take several months to become effective, and relapses can still occur. Long-term use may increase the risk of infection, skin rashes, and certain cancers.

IV medicines
IV immune globulin may be used for long-term attack prevention. Other IV treatments such as rituximab or tocilizumab may also be prescribed to suppress immune activity. Possible side effects include headaches and a higher risk of infection.

The type and duration of preventive treatment depend on individual response, side effects, and overall health. Your healthcare team helps determine the most appropriate approach based on your specific situation.