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    Susac's Syndrome

    Important
    It is possible that the main title of the report Susac's Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

    Synonyms

    Disorder Subdivisions

    • None

    General Discussion

    Summary
    Susac's syndrome is a rare disorder characterized by three main problems: impaired brain function (encephalopathy), partial or complete blockage (occlusion) of the arteries that supply blood to the retina (branch retinal artery occlusion, or BRAO), and inner ear disease (hearing loss, most notably).

    Three main forms of Susac's syndrome have become apparent. In one form, encephalopathy is the main problem. In the second form, BRAO and hearing loss are the main problems, and there is little or no brain disease. In the third form, encephalopathy is the main problem in the beginning, but recurrent episodes of BRAO and hearing loss become the main problem after the encephalopathy goes away.

    The encephalopathic form of Susac's syndrome often resolves spontaneously (often going away within 1 years), even without treatment (self-limited); the other forms tend to follow a more prolonged, more chronic course (3-10 years, or more).

    Introduction
    Although considered rare, Susac's syndrome is being recognized more often worldwide and its true frequency in the general population is unknown. This is because the disorder may be misdiagnosed as multiple sclerosis.

    Susac's syndrome is an autoimmune disease---specifically, an autoimmune endotheliopathy. "Autoimmune" means that a person's own immune system is mistakenly attacking one's own healthy tissue. An "endotheliopathy" is any disorder that involves injury to the endothelium, which is the thin layer of cells that line the inner walls of blood vessels. In Susac's syndrome, the person's own immune system is mistakenly attacking the endothelial lining of the smallest blood vessels (the capillaries, venules and arterioles) in the brain, retina, and inner ear. When the endothelial cells become injured, they tend to swell, and this endothelial cell swelling plays a key role in the partial or complete occlusion (blockage) of the tiny vessels in the brain, retina and inner ear. This blockage results in decreased blood flow through the vessels and, therefore, decreased delivery of oxygen and nutrients to the brain, retina, and inner ear---causing these three organs to suffer.

    Resources

    American Autoimmune Related Diseases Association, Inc.
    22100 Gratiot Ave.
    Eastpointe, MI 48021
    Tel: (586)776-3900
    Fax: (586)776-3903
    Tel: (800)598-4668
    Email: aarda@aarda.org
    Internet: http://www.aarda.org/

    Better Hearing Institute
    1444 I Street NW
    Suite 700
    Washington, DC 20005
    United States
    Tel: (202)449-1100
    Fax: (703)684-6048
    Tel: (800)327-9355
    Email: mail@betterhearing.org
    Internet: http://www.betterhearing.org

    NIH/National Institute of Neurological Disorders and Stroke
    P.O. Box 5801
    Bethesda, MD 20824
    Tel: (301)496-5751
    Fax: (301)402-2186
    Tel: (800)352-9424
    TDD: (301)468-5981
    Internet: http://www.ninds.nih.gov/

    Genetic and Rare Diseases (GARD) Information Center
    PO Box 8126
    Gaithersburg, MD 20898-8126
    Tel: (301)251-4925
    Fax: (301)251-4911
    Tel: (888)205-2311
    TDD: (888)205-3223
    Internet: http://rarediseases.info.nih.gov/GARD/

    American Academy of Audiology
    11730 Plaza America Drive, Suite 300
    Reston, VA 20190
    Tel: (703)790-8466
    Fax: (703)790-8631
    Tel: (800)222-2336
    Email: infoaud@audiology.org
    Internet: http://www.audiology.org

    AutoImmunity Community
    Email: moderator@autoimmunitycommunity.org
    Internet: http://www.autoimmunitycommunity.org

    Hearing Loss Association of America
    7910 Woodmont Avenue
    Suite 1200
    Bethesda, MD 20814
    Tel: (301)657-2248
    Fax: (301)913-9413
    Email: info@hearingloss.org
    Internet: http://www.hearingloss.org

    For a Complete Report:

    This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

    The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

    It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

    This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

    For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

    Last Updated: 9/5/2012
    Copyright 2003, 2004, 2009, 2012 National Organization for Rare Disorders, Inc.

    WebMD Medical Reference from the National Organization for Rare Disorders

    Last Updated: May 28, 2015
    This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.

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