KNOW
By ‘autoimmune or dysimmune encephalitis’ (AE) we refer to a broad group of rare dysimmune syndromes that affect the gray matter of the central nervous system.
They can cause epileptic seizures, movement disorders, coordination disorders as well as neurocognitive and psychiatric disturbances; they are severely disabling and potentially life-threatening: their causes may be unknown.
AUTOIMMUNE-DYSIMMUNE
The syndromes are defined as dysimmune or immune-mediated because the immune system mistakenly attacks the brain.
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They can mimic symptoms of other diseases: cognitive impairment, speech difficulties, migraine, dizziness, coordination disorders, fatigue, sleep abnormalities, status epilepticus, psychosis, coma. They are diverse, rare, and classified based on:
- anatomical (where the inflammation is located within the nervous system, e.g., limbic AE);
- etiological (what the cause is);
- serological (i.e., by the antibodies identified in the serum and/or cerebrospinal fluid, e.g., anti-NMDA AE, anti-GABA, anti-GAD65, etc.).
Most are seropositive AE, as they present autoantibodies in the cerebrospinal fluid and blood. However, there is a broad spectrum of syndromes with autoimmune inflammation of the gray matter in the central nervous system without specific detectable autoantibodies or lymphocytes.
In most cases, the reason why these antibodies are produced by the immune system is unknown—sometimes they can be generated by a benign or cancerous tumor (paraneoplastic encephalitis), and sometimes they can be a consequence of viral encephalitis or a virus (post-infectious cause)—but only the research we will be able to carry forward in the coming years will provide answers.
Diagnosis
A timely diagnosis reduces mortality and improves outcomes. In addition to symptom analysis, hospital tests and examinations such as … are required.
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- lumbar puncture (spinal tap) and blood tests for the identification and classification of antibodies in cerebrospinal fluid and blood serum;
- brain scans (computed tomography – CT or magnetic resonance imaging – MRI) to check for inflammatory changes in brain tissue;
- electroencephalogram (EEG) to detect any abnormalities in the brain waves, such as slow activity and sharp signs of epileptic activity.
Sometimes, there may be challenges in diagnosis due to the rarity of the disease and the symptoms being similar to those of other conditions; the presence of negative lab tests; or in patients with above-average cognitive function who may appear ‘normal’ during a quick examination.
For this reason, it is essential to have a diagnostic and treatment pathway involving a team of various specialists who listen and work in coordination using a multidisciplinary approach: neurologists, endocrinologists, immunologists, infectious disease specialists, rheumatologists, neuropsychologists, psychiatrists, and general practitioners.
Treatment
AE is a severe and sometimes fatal condition that requires appropriate and immediate treatment (within 24-48 hours from the onset of symptoms), even before a definitive cause is found.
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A delay in treatment can be associated with unfavorable outcomes, such as irreversible brain damage and chronicity. Hospitalization is often required for the administration of therapies.
The protocol includes reducing inflammation with immunomodulatory drugs (such as steroids, intravenous immunoglobulins, plasmapheresis) and immunosuppressants. Immunosuppressive and immunomodulatory drug treatments often use medications that do not have a specific indication.
All therapies provide benefits but also significant side effects: for each patient, the risk-benefit ratio can vary, and treatment choice depends on the individual case.
The progression of the disease is variable, and during acute phases, it requires constant follow-up with frequent specialist evaluations and hospital access for treatments that cannot be carried out at home. The occurrence of multiple flare-ups prevents the regular pursuit of work and social activities.
Living with AE
Recovery can be a long and slow process and should not be rushed.
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The journey through diagnosis and treatment can be frightening and devastating, while recovery can be long and frustrating. A person with AE must develop new skills and a lifestyle consistent with their new condition, learning new habits and strategies: during the acute phase, they may be uncooperative or aggressive, unaware of their behavior, and unable to control or remember it, while in the recovery journey, regaining self-awareness is essential.
In many cases, the response to therapies is good, especially if no underlying tumors are present, but long-term complications such as cognitive deficits and movement disorders often remain.
Fatigue, recurring headaches, memory/concentration difficulties, imbalance, epilepsy, physical weakness, reduced speed of thought and reaction, mood swings, changes in daily functioning ability—these have a potential impact on social relationships that should not be underestimated: returning to work and school can be challenging.
A brain injury or its repair is not visible, and it may be assumed that everything has returned to normal even when it hasn’t: AE is therefore an invisible disability that affects not only the person but also the entire family, which needs support.
Each person’s needs are unique and varied; no two individuals have identical symptoms or outcomes, and therefore the contribution of various professionals and non-professionals is needed to support, encourage, and maintain the progress achieved over time.