Skip to Content

Menu Icon
Menu
Menu Icon

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 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.

This information does not replace the advice of a doctor. Healthwise, Incorporated disclaims any warranty or liability for your use of this information. Your use of this information means that you agree to the Terms of Use. How this information was developed to help you make better health decisions.

Healthwise, Healthwise for every health decision, and the Healthwise logo are trademarks of Healthwise, Incorporated.

Symptom Checker

Feeling under the weather?

Use our interactive symptom checker to evaluate your symptoms and determine appropriate action or treatment.

Decision Points

Our interactive Decision Points guide you through making key health decisions by combining medical information with your personal information.

You'll find Decision Points to help you answer questions about:

Interactive Tools

Get started learning more about your health!

Our Interactive Tools can help you make smart decisions for a healthier life. You'll find personal calculators and tools for health and fitness, lifestyle checkups, and pregnancy.