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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 girlfriend's physicians think that she may have Susac syndrome. Can you provide us with some more information about this disease, particularly how it is treated and what we might expect in terms of prognosis?

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 the cochlea (inner ear) [1][2].  It is characterized by three main symptoms: encephalopathy (which can include headache, mild memory losses, 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 frequently 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: 7/7/2011

What are the signs and symptoms of Susac syndrome?

The specific symptoms and severity of Susac syndrome can vary from one person to another. Headache is often one of the earliest symptoms of Susac syndrome.  Recurrent headaches are almost always associated with encephalopathy.[4][5] Other neurological symptoms may develop including walking difficulties, slurred speech (dysarthria), and cognitive changes including memory loss, confusion and personality or behavioral changes. 

Patients may also have branch retinal artery occlusions (BRAO) usually in both eyes. Impairment of vision can occur in some cases; in other cases, people may have no symptoms with the presence of BRAO.

Low-frequency hearing loss can develop due to damage to the cochlea because of poor circulation; ringing in the ears (tinnitus) may also be present. [6]

The three main symptoms (encephalopathy, branched retinal arterial occlusions, and hearing loss) are not always present at the onset of symptoms and all three do not necessarily develop in all cases.

Susac syndrome can go away on its own, even without treatment.  It usually runs its course in two to three years in which individuals experience recurrent episodes of symptoms.  Although Susac syndrome may resolve on its own, some people can develop persistent neurological damage, hearing or vision loss.[7]
Last updated: 4/25/2011

What causes Susac syndrome?

The cause of Susac syndrome is still unknown. But it is suspected to be an autoimmune endotheliopathy, a disorder in which the body's immune system mistakenly attacks the lining (endothelium) of the walls of the very tiny blood vessels that supply blood to the brain, retinas, and inner ears.[1]

The symptoms of this condition result from damage to these very small blood vessels, which in turn results in decreased or impaired blood flow. Impaired blood flow to the brain, retinas and inner ears (microinfarcts) results in damage to the tissue or organs in these areas.[7]
Last updated: 4/25/2011

How is Susac syndrome diagnosed?

The diagnosis of Susac syndrome is suspected based on a thorough clinical evaluation, a detailed medical history, and a variety of specialized tests including magnetic resonance imaging (MRI) and fluorescein angiography.

In individuals with Susac syndrome, an MRI can show characteristic changes to the brain, especially the corpus callosum. A complete eye exam, including a flourescein angiography (angiogram) is necessary.  Individuals suspected to have Susac syndrome should also have a hearing exam to detect any hearling loss.[7]    

Susac syndrome can mimic several diseases. These conditions may include multiple sclerosis,[4][5][8] acute disseminated encephalomyelitis,[5] chronic encephalitis,[5][8] aseptic meningitis,[8] Lyme disease,[5] cardioembolic disorder,[5] complicated migraine,[5][8] systemic lupus erythematosus,[8] Bechet syndrome,[8] sarcoidosis,[8] tuberculosis,[8] syphilis,[8] lymphomas,[8] and Creutzfeldt-Jakob disease.[5]
Last updated: 4/25/2011

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 agents) such as steroids and intravenous immunoglobulins. Other drugs may also be necessary.[9][10][7]
 
For those with significant hearing loss, a specific type of hearing aid called a cochlear implant may be an option.
Last updated: 4/25/2011

What is the prognosis for people with Susac syndrome?

Susac syndrome has a chronic relapsing course punctuated by frequent remissions and flare-ups.  It typically lasts from 2 to 4 years, but may be as short as 6 months or as long as 5 years in duration. Some patients recover with little or no long term symptoms. Others are impaired with cognitive deficits, gait disturbance, and hearing loss. Usually vision is not seriously impaired.[5]

A study published in March 2007 entitled, Long Term Outcome in Susac Syndrome by Aubart-Cohen, et.al. followed 9 patients with Susac syndrome for more than 6 years. In this series, patients did not suffer from severe cognitive sequelae.  All but 1 patient returned to work.  Vision was usually not seriously impaired.  Most of the patients had bilateral hearing loss, with limited disability.[3]
Last updated: 4/25/2011

References