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Genetic and Rare Diseases Information Center (GARD)

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Susac syndrome


Other Names for this Disease

  • Retinocochleocerebral vasculopathy
  • SICRET (small infarction of cochlear, retinal, and encephalic tissue) syndrome
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Your Question

My sister-in-law was diagnosed with Susac syndrome last year.  She is currently receiving chemotherapy and IVIG treatments.  Are there any other forms of treatment available?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is Susac syndrome?

Susac syndrome is an autoimmune condition that affects very fine blood vessels in the brain, retina, and cochlea (inner ear).[1][2] It is characterized by three main symptoms: encephalopathy (which can cause headache, mild memory loss, personality changes, and confusion); sensorineural hearing loss; and vision loss. Most people do not have all the symptoms of Susac syndrome at the beginning of their illness but develop symptoms over the course of several years. Susac syndrome affects women more than men and the age of onset is usually between 20 and 40 years. The cause of this condition is still unknown. Corticosteroids, antiplatelets, anticoagulation, and cyclophosphamide have been used to treat Susac syndrome.[3] However, the extent to which individuals respond to treatment is not clear.[1] Improvement may occur spontaneously although in some cases there may be residual dysfunction.[1]
Last updated: 7/21/2014

How might Susac syndrome be treated?

Early, aggressive, and sustained treatment of Susac syndrome is recommended to avoid or minimize neurological damage, hearing loss, and/or vision loss. Treatment includes medications that suppress the activity of the immune system (immunosuppressive therapy) in the acute period. This may include high doses of steroids, cyclophosphamide, methotrexate, azathioprine and/or mycophenolate mofetil, as well as intravenous immunoglobulins.[4][5][6] After the acute period, treatment is continued with a slow tapering of corticosteroids. Alternative drugs such as rituximab, etanercept or cyclosporine A may be helpful in cases that don't improve with other treatments. Affected people with severe hearing loss may benefit from cochlear implants.[6]

The disease is usually self-limiting, and it often stabilizes in 2-4 years. However, it often results in various cognitive, visual and/or hearing problems.[6]
Last updated: 7/21/2014

References
Other Names for this Disease
  • Retinocochleocerebral vasculopathy
  • SICRET (small infarction of cochlear, retinal, and encephalic tissue) syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.