Background/Aims
Moyamoya disease refers to a chronic progressive steno-occlusive disease of internal carotid arteries and compensatory abnormal collateral vessel formation. Ring finger protein 213 (RNF213) has been identified as a susceptibility gene for moyamoya disease. Our study was to investigate the differences in clinical characteristics according to the presence or absence of RNF213 polymorphism.
Methods
We conducted retrospective study of patients with adult moyamoya disease who underwent RNF213 R4810K genotyping from moyamoya registries of 4 hospitals in Korea. We compared clinical and neuroimaging features of patients with RNF213+ with patients with RNF213-. Long-term outcome was identified by Jun 2022. We also investigated follow-up angiography more than 1 year after initial angiography.
Results
A total of 139 moyamoya patients were finally included. Among them, the RNF213 variant was observed in 86 patients (61.9%). Diabetes and dyslipidemia were less common in RNF213+ group (34.0% vs 11.6%, 67.9% vs. 44.2%). Other demographic findings were similar between two groups. The mean follow-up period was 7.2±5.3 years. Recurrent stroke and death were not significantly different between groups. Follow-up angiography was done in 99 patients (71.2%). Progression of vessel stenosis was found in 17/39 RNF- group (43.6%) and 22/60 RNF+ group (36.7%).
Conclusion
The higher rate of diabetes and hyperlipidemia in the RNF213- group suggests that some moyamoya patients diagnosed by neuroimaging might have ICAS caused by atherosclerosis rather than moyamoya disease. There were little differences in the outcome of adult moyamoya disease patients depending on the presence or absence of RNF213 polymorphism in this study.