Neuromyelitis optica: rare autoimmune disease has a complex diagnosis

In August 2017, Samara de Jesus, aged 24 at the time, woke up feeling discomfort from the waist down. “A cramping or tingling sensation.” As she had undergone surgery to remove her appendix, she thought the symptoms would pass and went to work. In the midst of a stress crisis, the situation worsened. “I fell hard to the ground. I couldn’t move. I lost movement in my legs for a few seconds.”

The diagnosis came some time later: neuromyelitis optica, a rare disease that affects the central nervous system, specifically the optic nerve and spinal cord. The condition is characterized by muscle weakness, fatigue and pain and can leave consequences such as blindness and inability to walk. “They said it could be lupus, multiple sclerosis and other autoimmune diseases,” recalled Samara. In the midst of treatment, the young woman also discovered that she was pregnant.

“I had to stay away because, after six months, I had an outbreak of the disease, while I was still pregnant. I was hospitalized for almost 20 days, lost the movement of my legs, lost control of my bladder and bowels. I used a tube while I was pregnant. It was much more difficult to deflate the spine and improve the condition,” she said. In total, there were four outbreaks before starting the correct medication. Today, Samara has regained movement in her legs, but muscle weakness persists.

Samara de Jesus discovered the disease at the age of 24. Photo: Personal archive

“I had this aftereffect. The movement did not fully return due to this weakness. After the last outbreak, I’m more careful about walking a lot. My leg gets tired and starts to pull. I walk with more difficulty, but I don’t walk with assistance.” Currently, there is no clinical protocol or specific therapeutic guidelines for neuromyelitis optica in the Unified Health System (SUS), which can make diagnosis and access to treatment difficult.

On Neuromyelitis Optica Awareness Day, celebrated this Wednesday (27), the National Congress building, in Brasília, receives green lighting, which will be maintained until next Sunday (31). The aim is to draw attention to awareness about the disease.

In Brazil, at least three therapies have been approved for the treatment of neuromyelitis optica – ravulizumab, satralizumab and inebilizumab. For these medicines to be offered in the SUS, however, a demand is necessary for analysis by the National Commission for the Incorporation of Technologies into the Unified Health System (Conitec).

Symptoms

In an interview with Brazil Agencythe neurologist at Hospital Israelita Albert Einstein, Herval Ribeiro Soares Neto, explained that the disease, still little known, mainly affects women of African descent and Asians between the ages of 30 and 40.

“In this disease, the body’s immune system mistakenly attacks and damages healthy cells in the central nervous system, which can lead to inflammation and demyelination, a process where the protective layer of nerves, called myelin, is damaged.”

A specialist in so-called demyelinating diseases, he reminds us that it is important to seek medical help immediately if the patient experiences symptoms such as loss of vision or sudden weakness, as early diagnosis and timely treatment are crucial to avoid permanent damage.

“Diagnosing neuromyelitis optica can be challenging, especially because the symptoms are similar to those of other autoimmune diseases and central nervous system disorders, such as multiple sclerosis. Diagnosis usually involves a combination of blood tests to detect specific antibodies such as anti-aquaporin 4, MRI to visualize lesions in the optic nerve and spinal cord, and sometimes a lumbar puncture.”

“There is no cure for neuromyelitis optica, but today there are care and treatments that can help manage symptoms and reduce the frequency of outbreaks. Multidisciplinary treatment, such as physical therapy, can help improve function and mobility.”

The management of neuromyelitis optica, according to the doctor, requires a multidisciplinary approach and continuous monitoring by a specialized healthcare team, including neurologists, ophthalmologists and physiotherapists, to adapt treatments to the patient’s individual needs and monitor the progression of the disease.

Treatment

According to the Ministry of Health, neuromyelitis optica was considered, for a long time, as a variable of multiple sclerosis. The main signs and symptoms include inflammation of the optic nerve, motor and sensory deficits, episodes of unexplained hiccups or nausea and vomiting. To date, there is no established treatment regimen for the disease, not even in international protocols.

“Although several medications are considered effective, there are no treatment algorithms or therapeutic regimens that are widely accepted and supported by high levels of evidence. Different therapeutic alternatives have recently been approved for treatment around the world, including rituximab, tocilizumab, eculizumab and inebilizumab”, highlighted Conitec.

*Text updated at 8:06 pm