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Susac's Syndrome

National Organization for Rare Disorders, Inc.

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

  • Susac syndrome

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 MyD-H, the Dartmouth-Hitchcock patient portal. You must be a registered MyD-H user for the Lebanon, Manchester, or Nashua locations to access this site.

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.

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