Synonyms

• Susac syndrome

Disorder Subdivisions

• None

General Discussion

Susac's syndrome is a rare disorder characterized by impaired brain function (encephalopathy), blockage (occlusion) of the arteries that supply blood to the retina (branched retinal arterial occlusion [BRAO]), and hearing loss. Two main forms of Susac's syndrome have been identified. In one form, encephalopathy is the main finding, in the other form, BRAO and hearing loss occur without signs of brain disease. The specific symptoms and severity of Susac's syndrome vary from one person to another. The encephalopathic form of Susac's syndrome often improves spontaneously even without treatment (self-limited); the other form is frequently a chronic disorder. Although considered rare, Susac's syndrome is being recognized more often worldwide and its true frequency in the general population is unknown.

Susac's syndrome is considered an autoimmune endotheliopathy. An autoimmune disorder occurs when the body's own immune system mistakenly attacks healthy tissue. An endotheliopathy is any disorder that primarily involves the endothelium, which is the thin layer of cells that line the walls of blood vessels. In Susac's syndrome, the smallest blood vessels (microvasculature) of the circulatory system such as the capillaries, venules and arterioles are affected. Specifically, the microvasculature of the brain, retinas and inner ears are involved.

Resources

American Autoimmune Related Diseases Association, Inc.
22100 Gratiot Ave.
East Detroit, 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, D.C. 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
Email: me20t@nih.gov
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:  4/1/2009
Copyright  2003, 2004, 2009 National Organization for Rare Disorders, Inc.