Susac syndrome - different treatment approaches for one disease (analysis of case series)

Susac syndrome is a rare, autoimmune, occlusive endotheliopathy that affects blood vessels in the central nervous system (CNS), retina, and inner ear. At initial medical evaluation, the classic triad of symptoms is present in less than one-third of patients, making diagnosis challenging.

A brief review and retrospective analysis of the course, disease activity, exacerbations, and treatment of four patients with Susac syndrome.

The mean age of the patients was 25.8 years, and the average disease duration was 183.5 months +/- 90.65. The clinical triad was observed at the onset of the disease in only one patient. The first patient with predominant CNS symptoms was treated with prednisone, methotrexate, and sulfasalazine (IVIG and GCS i.v. were used during exacerbations). The next patient with exacerbation of ENT symptoms was treated with oral methylprednisolone (MP) and mycophenolate mofetil. The third patient had no clear predominance of any symptoms and responded well to azathioprine. The last patient presented mainly ophthalmological symptoms and was initially treated with cyclophosphamide (total dose 6200 mg) and IVIG. Later, azathioprine and mycophenolate mofetil were introduced.

The described cases highlight differences in the course of the disease and response to immunosuppressive therapy. Patients initially responded very well to high doses of GCS and IVIG. However, in addition to long-term remissions, relapses also developed. Therefore, individual treatment based on the principles of personalized medicine is necessary.