Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2023 Dec;270(12):5719-5730.
doi: 10.1007/s00415-023-11936-3. Epub 2023 Sep 5.

Clinical characteristics and treatment approaches in patients with Susac syndrome: a scoping review of cases

Robin Stinissen #  1 , Eldar Tukanov #  1 , Martin Wyckmans #  1 , Jeroen Kerstens  2 , Barbara Willekens  3   4   5
Affiliations

Clinical characteristics and treatment approaches in patients with Susac syndrome: a scoping review of cases

Robin Stinissen et al. J Neurol. 2023 Dec.

Abstract

Background: Susac syndrome (SuS) is a rare disease characterized by encephalopathy, hearing impairment and visual disturbances. Immunosuppressive treatments are used based on the hypothesis that an autoimmune endotheliopathy drives the disease. However, a solid evidence-based treatment approach is lacking. The aim of this review is to provide an overview of patient characteristics, disease course and treatment patterns related to successful outcome that have been reported in literature since 2013.

Methods: Three reviewers conducted a systematic literature search in February 2022. The primary outcome was treatment used, derived from cases classified as probable or definite SuS, describing successful treatment outcome (i.e. no signs of disease activity for ≥ 1 month). Secondary outcomes were time-to-relapse and follow-up time. Published case reports and case series were included. Various clinical characteristics and treatment(s) were extracted and categorized into different phases of treatment.

Results: A total of 810 records was identified. 120 articles met inclusion criteria and 161 cases were extracted. Of these, 151 cases were classified as probable or definite SuS and included in the final analysis. Number of combinations of treatments used per treatment phase were: 6 empirically, 35 after confirmed diagnosis, 43 for maintenance treatment, 22 after relapse, 18 during maintenance post-relapse. Median follow-up time was 12.3 months (0.5; 120) and median time to relapse was 4 months (1; 120).

Conclusion: This scoping review summarizes treatment approaches in patients with SuS, highlighting variability. International efforts to collect clinical, imaging and treatment data from patients with SuS in registries are needed, in order to provide less biased and long-term follow-up information on treatment response, predictors of relapse and patient outcomes. This may lead to more evidence-based therapeutic approaches.

Keywords: Autoimmune; Encephalopathy; Hearing loss; Retinal artery occlusion; Susac syndrome.

PubMed Disclaimer

References

    1. Susac JO, Hardman JM, Selhorst JB (1979) Microangiopathy of the brain and retina. Neurology 29(3):313–316 - PubMed - DOI
    1. Seifert-Held T et al (2017) Susac’s syndrome: clinical course and epidemiology in a Central European population. Int J Neurosci 127(9):776–780 - PubMed - DOI
    1. Dörr J et al (2013) Characteristics of Susac syndrome: a review of all reported cases. Nat Rev Neurol 9(6):307–316 - PubMed - DOI
    1. Marrodan M, Fiol MP, Correale J (2022) Susac syndrome: challenges in the diagnosis and treatment. Brain 145(3):858–871 - PubMed - DOI
    1. Kleffner I et al (2016) Diagnostic criteria for Susac syndrome. J Neurol Neurosurg Psychiatry 87(12):1287–1295 - PubMed - DOI

Publication types