Abstract WP080: Impact of the RNF213 p.R4810K Variant on Clinical Characteristics and Treatment Outcomes in Patients with Intracranial Artery Stenosis With and Without Endovascular Treatment

Background: The RNF213 p.R4810K variant is prevalent in East Asians and is a recognized genetic risk factor for intracranial artery stenosis (ICAS). Although endovascular treatment (EVT) has shown potential benefits, its role in RNF213 carriers remains unclear. Objective: To evaluate the clinical characteristics and treatment outcomes of symptomatic ICAS in carriers versus non-carriers of the RNF213 p.R4810K variant among patients with and without EVT. Methods: We retrospectively analyzed 72 patients with symptomatic ICAS (ICA, MCA, or ACA) who underwent genetic testing between April 2020 and July 2025. EVT was performed in 29 patients. ICAS was defined as ≥50% luminal narrowing according to the WASID criteria on MRA, CTA, or angiography. Demographics, vascular morphology, treatment modality (EVT or medical therapy), complications, and outcomes were compared between carriers and non-carriers. Results: Thirteen patients (18.1%) carried the variant. Carriers were more often female (54% vs. 37%) and younger (median age, 62 vs. 71 years). Stenosis severity was similar (71% vs. 73%), but lesion length was greater in carriers (8.0 vs. 5.9 mm). Complex lesions (Mori type ≥ C) were observed in 7 of 13 carriers (53.8%) compared with 15 of 59 non-carriers (34.4%). None of these differences reached statistical significance. Balloon angioplasty and/or stenting was performed in 5 carriers (38.5%) and 24 non-carriers (40.7%), with technical success achieved in all cases. Retreatment for restenosis was required in 2 carriers (40.0%) and 7 non-carriers (29.2%). All patients who underwent EVT achieved good functional outcomes (mRS 0–2) at 3 months. Among those treated medically, the proportion of patients with good outcomes was 100% in carriers (n=8) and 68.8% in non-carriers (n=35), with significant difference (p=0.022). Conclusions: Carriers of the RNF213 p.R4810K variant in symptomatic ICAS patients were typically younger women with longer and more complex lesions. Functional outcomes after EVT were favorable in both carriers and non-carriers, although retreatment tended to be slightly more frequent in carriers. Conversely, in the medically treated group, outcomes appeared to be better in carriers. Further prospective studies are needed to validate these findings and optimize treatment strategies.