Rare Pulmonology News

Disease Profile

Autoimmune encephalitis

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

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Age of onset

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ICD-10

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Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Summary

Autoimmune encephalitis refers to a group of conditions that occur when the body's immune system mistakenly attacks healthy brain cells, leading to inflammation of the brain. People with autoimmune encephalitis may have various neurologic and/or psychiatric symptoms. Neurologic symptoms may include impaired memory and cognition, abnormal movements, seizures, and/or problems with balance, speech, or vision.[1][2] Psychiatric symptoms may include psychosis, aggression, inappropriate sexual behaviors, panic attacks, compulsive behaviors, euphoria or fear. Symptoms may fluctuate, but often progress over days to a few weeks. Symptoms can progress to loss of consciousness or even coma.[1]

Autoimmune encephalitis may be associated with antibodies to proteins on the surface of nerve cells, or within nerve cells. Some of these proteins are involved in passing signals between nerve cells.[1][3][4] In some cases it occurs in association with cancer (a paraneoplastic syndrome).[3][1] Research regarding why specific antibodies attack the body's healthy cells is ongoing. Autoimmune encephalitis generally occurs sporadically, in people with no family history of the condition.[2]

Treatment may involve intravenous immunosuppressive therapy, and tumor removal when necessary. Early treatment decreases the likelihood for long-term complications, speeds recovery, and reduces the risk of recurrence (relapse). If not treated, the condition can lead to progressive neurologic deterioration and loss of life.[3]

Diagnosis

Diagnosis of autoimmune encephalitis can be made when all three of the following criteria have been met:[4]

1. Subacute onset (rapid progression of less than 3 months) of working memory deficits (short-term memory loss), altered mental status, or psychiatric symptoms

2. At least one of the following:

• New focal CNS findings
• Seizures not explained by a previously known seizure disorder
• CSF pleocytosis (white blood cell count of more than five cells per mm3)
• MRI features suggestive of encephalitis

3. Reasonable exclusion of alternative causes

A team of leading autoimmune encephalitis researchers have established diagnostic criteria for these conditions. View the full position paper, entitled A Clinical Approach to Diagnosis of Autoimmune Encephalitis.

For more on diagnosis, visit the following link to the International Autoimmune Encephalitis Society Web site:
https://autoimmune-encephalitis.org/diagnosis

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    Social Networking Websites

      Organizations Providing General Support

        Learn more

        These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

        Where to Start

          In-Depth Information

          • PubMed is a searchable database of medical literature and lists journal articles that discuss Autoimmune encephalitis. Click on the link to view a sample search on this topic.

            Selected Full-Text Journal Articles

              References

              1. Lancaster E. The Diagnosis and Treatment of Autoimmune Encephalitis. J Clin Neurol. January, 2016; 12(1):1-13. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4712273/.
              2. Autoimmune Encephalitis FAQ. Autoimmune Encephalitis Alliance. https://aealliance.org/faq/. Accessed 10/26/2017.
              3. Dalmau J, Rosenfeld M. Paraneoplastic and autoimmune encephalitis. UpToDate. Waltham, MA: UpToDate; July 26, 2017; https://www.uptodate.com/contents/paraneoplastic-and-autoimmune-encephalitis.
              4. Graus F, Titulaer MJ, Balu R, et al. A clinical approach to diagnosis of autoimmune encephalitis. Lancet Neurol. April, 2016; 15(4):391-404. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5066574/.

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