FAQ

 

  1. What is Autoimmune Encephalitis (AE)?
  2. What are the most common symptoms of AE?
  3. Is AE considered a “new” disease? Is it rare?
  4. Are you more likely to be diagnosed with AE due to age or gender?
  5. What kind of doctors treat AE?
  6. How do clinicians currently recognize, and establish a diagnosis of AE?
  7. What are the known causes of AE?
  8. Are family members at greater risk of contracting AE?
  9. What kind of outcomes can we expect from this disease? How long does it take to get better?
  10. How can I determine whether someone I’m caring for has AE or not?
  11. What are the most common treatments for AE?
  12. What other medications are commonly prescribed to patients with AE? Are there any medications that specifically should not be taken by someone suffering from AE?
  13. What is the frequency of relapse after having an acute episode of AE?
  14. What social services are available for children (in the U.S.) who have suffered traumatic brain injury as a result of AE?
  15. My doctor says my family member does not have AE. Should I get a second opinion?
  16. Is AE related to PANDAS, and if so, how?
  17. What is the mission of the AE Alliance? How can I help?
  18. A family member has recovered from AE, and we would like to reach out to help others coping with this illness. How can we do that?

 


What is Autoimmune Encephalitis (AE)?

AE is a serious medical condition in which the immune system attacks the brain, impairing function. With rapid diagnosis and appropriate treatment, many patients recover most or all functions. However, not all patients experience full recovery; with approximately 6% mortality and other patients who never regain significant brain and/or bodily functions.

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What are the most common symptoms of AE?

Autoimmune encephalitis can produce a wide range of neuro-psychiatric symptoms. Click here for a full discussion of symptoms.

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Is AE considered a “new” disease? Is it rare?

While the term “autoimmune encephalitis” appears in the medical literature in the 1970’s and 1980’s, the first specific AE antibody was identified in 2005 when Dr. Josep Dalmua described the anti-NMDA-receptor encephalitis type. The field of AE has expanded rapidly since then. Now there are more than fifteen known types of AE, including auto-antibodies directed against NMDA, LGI1, CASPR2, VGKC-complex antibodies, AMPA, and GABA.

Initially considered very rare, the disease is now increasingly recognized as a significant diagnosis in the spectrum of brain illnesses related to malfunctions of the immune system. These types of disorders may be much more common than previously thought.

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Are you more likely to be diagnosed with AE due to age or gender?

The disease occurs in men, women and children of all ages, but it has historically been diagnosed most frequently in young women. An older study suggests that out of 100-plus known autoimmune diseases, 75% of people affected are female.

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What kind of doctors treat AE?

AE is a multi-disciplinary disease. Diagnosis and treatment often requires the combined efforts of multiple specialists including: psychiatrists, neurologists, rheumatologists, and immunologists.

Psychiatrists specialize in the diagnosis and treatment of mental disorders and are key to “ruling out” neurological causes of psychiatric symptoms.

Neurologists specialize in the diagnosis and treatment of diseases involving the nervous system, which includes the brain, spinal cord, and body’s network of nerves.

Rheumatologists specialize in the diagnosis and treatment of clinical problems that affect the joints and soft tissue. Since many of the diseases rheumatologists treat are immune system related, they are often included under the banner of immunology.

Immunologists specialize in the diagnosis and treatment of problems with the immune system, including immunodeficiency, when the immune system is compromised or impaired, and autoimmunity, when the immune system attacks its own body.

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How do clinicians currently recognize and establish a diagnosis of AE?

Until recently, no broadly accepted criteria existed for diagnosing AE.  This lead many doctors to rely on testing for the presence of antibodies (i.e. anti-NMDA receptor antibodies) or diagnosing by process of elimination and diagnosis-through-treatment. For example, if test results for all other diseases are negative and the disease symptoms improve with immune-modulation therapy.

In 2016, a Lancet Neurology article by Dalmau et al provides the first broadly accepted diagnostic criteria for autoimmune encephalitis. The article was followed by a precis that provides a series of panels for use in diagnosing AE. Among the key findings of the new criteria:

  • the diagnosis criteria does not rely on antibody status;
  • response to immunotherapy not a focus of the diagnostic criteria;
  • the initial diagnostic assessment should be conducted rapidly to allow early initiation of immunotherapy; and
  • the diagnostic criteria should be applied with caution for children, especially those less than 5 years old

Read the AE Alliance blog post on precis for more information. Consider sharing both the article and the precis with your medical team if they have not read these articles.

 

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What are the known causes of AE?

The direct cause of most cases of AE remain unknown. However the following have been shown to trigger AE:

  • a teratoma ( a type of tumor, generally found in the ovaries);
  • the presence in the body of a cancer, that indirectly triggers an autoimmune response (this is called a “paraneoplastic syndrome”)
  • exposure to certain common bacteria, including, but not limited to, streptococcus and mycoplasma pneumonia, with or without active infection.

A teratoma or cancer is found only in a small minority of AE patients. Active infection is also uncommon in patients presenting with AE. Unfortunately, the immediate trigger of many episodes of AE remains unknown.

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Are family members at greater risk of contracting AE?

No research to date shows increased risk of contracting AE among family members of those with the disease.

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What kind of outcomes can we expect from this disease? How long does it take to get better?

More research is needed on recovery and outcomes associated with AE. One study from 2013 provides the best data.

The 2013 Lancet Neurology article reviewed the study of 577 patients with AE reported that 53% of patients who received immunomodulation therapy showed improvement within 4 weeks. 81% of patients showed substantial or complete recovery. On average, patients continued to improve for 14 months after onset of acute AE. 12% of patients who recovered from a first acute episode had at least one relapse in the next two years. Overall mortality associated with the disease was approximately 6%. [Note that this study is limited to one type of AE – anti-NMDA-receptor antibody encephalitis].

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How can I determine whether someone I’m caring for has AE or not?

If you suspect that you or a family member may have AE, you should consult your primary care physician in addition to specialists in neurology, psychiatry, immunology, or rheumatology. Workup should include tests for known antibodies, scans for teratomas, EEG, and MRI.

At least fifteen different types of autoimmune encephalitis have been identified in the laboratory. Several commercial labs provide diagnostic tests for AE including Mayo Labs, Euroimmun and Athena Diagnostics.

See “How do clinicians currently recognize and establish a diagnosis of AE?” above for links to diagnostic criteria for AE.

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What are the most common treatments for AE?

As soon as a patient is diagnosed with AE, they should receive one or more of the four (4) first-line treatments.

  1. removal of a teratoma (if present) that could be triggering the autoimmune response
  2. steroids to reduce immune response and inflammation
  3. plasmapheresis to remove harmful antibodies from blood
  4. intravenous immunoglobulin (IVIG), which is believed to occupy the binding sites where harmful antibodies attach to brain cells.

“Second line” treatments—immunosuppressant drugs—should be started promptly if first-line treatments fail to improve symptoms. The three most commonly used drugs are:

  1. Rituximab
  2. CellCept
  3. Cytoxan (cyclophosphamide)

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What other medications are commonly prescribed to patients with AE? Are there any medications that specifically should not be taken by someone suffering from AE?

For  treatment of symptoms – in particular agitation and sleeplessness – benzodiazepines are commonly prescribed. High-dose Lorazepam (trademark: Ativan) can be highly effective for AE patients.

Note that because of the completely different disease mechanism, use of anti-psychotic drugs commonly used to treat bipolar disorder and schizophrenia such as Clozapine (Clozaril) and Risperidone (Risperidal) may not be effective, and according to some clinicians may actually increase the severity of AE symptoms.

Failure to respond to anti-psychotics may be a diagnostic clue that the actual cause of psychosis may be autoimmune encephalitis.

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What is the frequency of relapse after having an acute episode of AE?

The Lancet Neurology article reported that 12% of patients had at least one relapse within two years.

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What social services are available for children (in the U.S.) who have AE?

School age children are entitled to accommodations under U.S. law, and may qualify for an Individualized Education Program (IEP) for acquired cognitive problems and/or ADD. Both the National Center for Learning Disabilities and the National Dissemination Center for Children with Disabilities provide useful information on IEPs and other resources.

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My doctor says my family member does not have AE. Should I get a second opinion?

It is critical that you feel that your medical provider is addressing all of your medical concerns. If you feel you aren’t being heard, we highly recommend getting a second opinion. You are your best advocate.

If you are looking for a second opinion, you can access the AE Clinicians Network here. The network is a list of self-identified AE experts. 

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PANDAS (Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal infection) is a disease that results in psychiatric symptoms, including obsessive-compulsive behaviors. Clinical trials are now underway on use of immunomodulation therapy for PANDAS, and a number of clinicians offer this type of treatment. PANDAS, like AE, is still poorly understood, but it appears both illnesses are part of a related continuum of brain disorders triggered by immune system malfunctions and may be under the umbrella of AE disorders.

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What is the mission of the AE Alliance? How can I help?

The Autoimmune Encephalitis Alliance seeks to improve the lives of autoimmune encephalitis patients and their families through :

  • Establishing autoimmune encephalitis clinical standards of care across medical disciplines
  • Coordinating basic and clinical research efforts
  • Building community awareness connecting families so that nobody faces autoimmune encephalitis alone.

Please visit our contact page to connect with the AE Alliance and join our mailing list.

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A family member has recovered from AE, and we would like to reach out to help others coping with this illness. How can we help?

There are many ways that you can assist the AE Alliance and other families going through the disease. Share your story with us. In the near future, we plan to establish a patient/family peer-to-peer network. But also you can host an event in your area or share this information broadly to your network. Keep in touch on facebook, twitter or other social media. We want to spread the word and help educate a community on this disease. Please visit our volunteer signup.

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