Susac's syndrome--pathogenesis, clinical variants and treatment approaches

Susac's syndrome is a rare disease that is characterised by the clinical triad of encephalopathy, branch retinal artery occlusion, and sensorineural hearing loss. It was first described as a distinctive syndrome by Susac in 1979. There have been 304 reported individual patients with Susac's syndrome. Etiopathogenesis is not clear, although it is now thought that it is an immune-mediated endotheliopathy that affects the microvasculature of the brain, retina, and inner ear. Antiendothelial cell antibodies (AECAs) play an important role in mediating the endothelial cell injury with consequent deposition of thrombotic material in the lumen of the small vessel. In biopsies of the brain, microinfarcts with atrophy of the white and grey matter could be detected. These microinfarcts are caused by a microangiopathic process with arteriolar wall proliferation, lymphocytic infiltration and basal lamina thickening. At clinical onset, the most common manifestation was central nervous system symptoms, followed by visual symptoms and hearing disturbances. Diagnosis is based on Magnetic Resonance Imaging (MRI), retinal fluorescein angiography, and audiometry; these are considered crucial tests to enable diagnosis. Antiendothelial cell antibodies (AECAs) are also of diagnostic relevance. Based on the hypothesis of being an autoimmune disease, treatment has to be immunosuppressive. In addition, anticoagulation measures, antiplatelet agents and antivasospastic agents should be considered. The majority of patients did not initially present with the complete triad of symptoms. An appropriate approach would be to perform a search for absent components of the triad if the clinical presentation is suggestive of Susac's syndrome. Improved understanding of the presentation of Susac's syndrome will prevent misdiagnosis and ensure that patients receive the best possible care.