Devic's syndrome (Neuromyelitis optica spectrum disorder - NMOSD) is a rare disease of the nervous system in which the spinal cord and the optic nerves are damaged. Consequently, the disease can lead to blindness and complete muscle paralysis. What are the causes and symptoms of Devic's syndrome? How is the treatment going?

Devic's syndrome(Neuromyelitis optica spectrum disorder - NMOSD), or inflammation of the optic nerve and spinal cord, is a demyelinating disease of the nervous system in which the protective sheath (myelin ) around the optic nerve and spinal cord.

Devic's syndrome is a rare neurological disease. Epidemiological studies show that the Devic syndrome affects 0.5-4.4 per 100 thousand. people. Neurologists estimate that for 40 people with MS, there is one patient with NMOSD. The average age of onset is 30-40 years, although there are also cases in childhood or after the age of 50. Women suffer from Devic's syndrome up to ten times more often than men.

This disease was first described by a French physician, Eugeniusz Devic, at the end of the 19th century. That is why it was called the Devic's disease or syndrome. Because its symptoms are similar to multiple sclerosis, it has been considered a form of MS for many years. It was not until 2004 that American neuroimmunologists discovered the mechanism leading to the development of Devica syndrome, other than the mechanism responsible for the development of multiple sclerosis.

Devic's team - reasons

Devic's syndrome is an autoimmune disease. The immune system recognizes the spinal cord and optic nerves as a threat and produces antibodies called anti-aquaporin 4 (AQP4) against these parts of the nervous system. As a result of an attack of antibodies, inflammation within the myelin of the nerve develops, followed by atrophy and finally necrosis of the nerve itself, which is an irreversible process.

- NMOSD is a rare autoimmune disease of the nervous system resulting from a malfunction of the immune system that attacks its own tissues, specifically certain parts of the nervous system. It was only a dozen or so years ago that the main culprit was unmasked - these pathogenic antibodies produced by the person's bodyand directed against a specific molecule located mainly in the optic nerves and the spinal cord. This molecule is aquaporin 4. As a result of the attack of antibodies on aquaporin 4, inflammation develops in the optic nerves and in the spinal cord, the cells that make up these tissues die, and demyelination, a phenomenon typical of multiple sclerosis, develops. In NMOSD, however, demyelination does not play as much of a role as in MS, and NMOSD symptoms result rather from inflammation of the nerve tissue and cell death, explains Prof. dr hab. n. med. Beata Zakrzewska-Pniewska, a neurologist from the Department and Clinic of Neurology at the Medical University of Warsaw.

Devic's syndrome - symptoms

Devic's syndrome is relapsing, i.e. after the first attack of the disease, there is a period (not too long) of significant relief of symptoms. Then comes another flare-up that is usually stronger than the last one. During the "attack" symptoms appear, resulting from inflammation of the spinal cord and inflammation of the optic nerve.

Devica syndrome symptoms include:

  • paresis or paralysis of the lower limbs or both lower and upper limbs
  • increased muscle tension
  • sensory disturbance
  • severe pain in limbs
  • paroxysmal painful muscle spasms
  • disorders of urination and stool (resulting from dysfunction of the sphincters - a group of muscles blocking the passage of feces / urine from the anus / urethra)
  • eyeball pain
  • visual disturbance (from visual fatigue and deterioration of visual acuity to complete blindness).

- NMOSD may also involve a structure called the brain stem, i.e. the part of the nervous system between the spine and the brain, hence the symptoms of this disease may be completely non-obvious, such as: persistent hiccups, nausea, vomiting, dizziness, pain facial paralysis, facial nerve paralysis, hearing impairment, swallowing disorders or balance disorders. Very rarely, respiratory disorders that pose a threat to the patient's life appear. Sometimes, in the course of NMOSD, there are symptoms of the brain itself: consciousness disorders or cognitive disorders, e.g. memory impairment, and less typical symptoms resulting from damage to the hypothalamus, i.e. hormonal disorders - emphasizes prof. Beata Zakrzewska-Pniewska.

Devic's team - diagnosis

If Devica's syndrome is suspected, it is necessary to perform comprehensive diagnostic tests - usually in a hospital setting.

Research towards Devic's disease is:

  • blood tests for anti-aquaporin antibodies 4
  • magnetic resonance imaging
  • CSF tests

The results of the above studies distinguish between Devic's disease and multiple sclerosis. This is important because some medications used to treat multiple sclerosis may not only not help with NMOSD, but even worsen the course of the disease and the patients' condition.

Devic's team - mileage

U 10-20 percent Patients with Devic's disease have only one relapse. The relapsing course, i.e. relapses and remissions, is much more common. Relapses are usually more severe than MS and remission is not complete, so after each relapse some symptoms remain and then worsen and disability progresses. - The natural course of NMOSD, i.e. when the patient does not receive any treatment, is unfortunately very difficult. After 5-7 years from the first symptoms, half of the patients develop severe motor disability, in almost 3/4 of patients - blindness of at least one eye, and about 1/3 of patients die. Fortunately, we can change this very unfavorable prognosis with proper treatment. However, it is necessary to make a diagnosis as soon as possible, and consequently - to implement appropriate treatment as soon as possible - says Prof. dr hab. n. med. Beata Zakrzewska-Pniewska.

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Devic's syndrome and multiple sclerosis (MS)

Formerly Devic's syndrome was considered a form of multiple sclerosis (MS). However, it was finally established that NMO and MS are different disease entities. The distinction between these two diseases is made on the basis of research results.

  • magnetic resonance imaging - in MS, changes occur in the brain, and in Devic's syndrome, these changes occur in the spinal cord
  • examination of the cerebrospinal fluid - the parameters of inflammation in Devic's syndrome and the absence of oligoclonal bands. The latter are present in multiple sclerosis

Devic's team - treatment

The patient is administered intravenous glucocorticosteroids, which inhibit the activity of cells of the immune system, and thus the production of antibodies. In addition, other anti-inflammatory and immunosuppressive drugs are also used.

The doctor may also order plasmapheresis, i.e. purification of the blood from unwanted elements (in this case, autoantibodies). In some cases, intravenous immunoglobulin administration is the method of choice.

The patient can also benefit from the so-called biological therapy, i.e. antibodies produced with the use of molecular biology techniques (e.g. rituximab, ocrelizumab), impairing the function of B lymphocytes (antibody-producing cells).

- NMOSD treatment is multidirectional and its overarching goal is to improve the patient's quality of life. When an attack occurs, we focus on treating that attack. This treatment is, in most cases, the same as the treatment of an MS relapse and most often consists of intravenous corticosteroids. In some situations, in NMOSD patients, we perform a plasma exchange to remove pathogenic antibodies from the bloodstream. In other special situations, e.g. in pregnant women who suffer from NMOSD and have experienced relapses, we administer intravenous immunoglobulins. - says prof. Beata Zakrzewska-Pniewska. - In patients after a relapse - if necessary - we apply symptomatic treatment in order to minimize the symptoms that are severe for the patient, which remain after the attack of the disease. Our role is also to propose a treatment that will prevent further relapses and inhibit the progression of the disease and the development of disability. This is a chronic treatment called disease-modifying therapy. Currently, we use various drugs for this purpose, administered in autoimmune diseases, e.g. in rheumatology: oral corticosteroids and drugs with non-specific immunosuppressive activity. However, this is not an optimal treatment. New drugs from the group of monoclonal antibodies that have recently appeared on the market are a chance for a much more effective treatment modifying the course of NMOSD. The good effect of monoclonal antibodies in the treatment of NMOSD has been confirmed by clinical trials, and as clinicians dealing with NMOSD patients, we very much hope that we will soon be able to use them - as reimbursed drugs - in our patients in Poland. It will be a great step towards improving the effectiveness of therapy - emphasizes prof. Beata Zakrzewska-Pniewska.

Important

Devic's team - bad prognosis

More than half of patients lose their eyesight and the ability to move independently within 5 years of the onset of symptoms. However, early detection and prompt treatment improve prognosis.

- Devic's disease is a dynamic, violent disease that quickly leads to disability and often death. It is diagnosed in people in the prime of life, who are professionally, family and socially successful. Meanwhile, the quality of life of people with NMOSD is poor and can unexpectedly deteriorate overnight, preventing them from performing their jobs, caring for children, or even basic daily activities. The occurrence of even a single bout of the disease may lead to severe and permanent neurological disorders. That is why it is so important to diagnose quickly and start effective treatment quickly, which will hinder the progressthis disease. Currently, such treatment is not reimbursed, so there is an urgent need to introduce such a reimbursement. This is of great importance for the patient and his relatives, but also for the entire society, because ineffectively treated Devic's disease is associated with high social costs - says Tomasz Połeć, chairman of the Polish Multiple Sclerosis Society (PTSR), which also groups patients diagnosed with NMOSD.

Category:

Neurology