Treatment outcomes of cerebral arteriovenous malformations in patients with Hereditary hemorrhagic Telangiectasia: A case series from a Single-Center experience.

INTRODUCTION

Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant vascular disorder characterized by multisystemic arteriovenous malformations (AVMs), including those in the central nervous system. Cerebral AVMs (cAVM), present in up to 23% of patients with HHT, pose a risk of serious neurological complications such as hemorrhage or seizures. Despite their clinical significance, standardized treatment guidelines for cAVM in HHT remain lacking due to limited data. This study evaluates outcomes of stereotactic radiosurgery (SRS) and microsurgical resection for unruptured cAVM in patients with HHT.

METHODS

We retrospectively analyzed 26 patients with clinically or genetically confirmed HHT and radiologically verified unruptured cAVM treated at our institution between 1996 and 2024. Patients were selected based on treatment with either surgery or SRS and a minimum of 1-year follow-up, excluding cases with prior ruptures or previous AVM interventions. Clinical, radiographic, and treatment data were collected and reviewed, including AVM characteristics, intervention parameters, and functional outcomes. The outcomes were changes in functional status measured by the modified Rankin Scale (mRS), complication rates, AVM obliteration, and recurrence. Statistical analysis included the X2 test, Fisher's exact test, and the Mann-Whitney U test, with significance set at p < 0.05. Survival outcomes were assessed using Kaplan-Meier analysis.

RESULTS

Among 26 patients, 4 underwent CyberKnife SRS and 22 had microsurgical resection. In the SRS group, all patients were female with a mean age of 39 years at the time of diagnosis; 80 % of lesions achieved complete obliteration at a median follow-up of 5.9 years. Most lesions were superficial, small in volume (mean: 0.16 cm3), and received an average marginal dose of 20.1 Gy. Post-radiosurgical complications occurred in 50 %, primarily headaches and visual disturbances; no hemorrhages or seizures were reported. In the surgery group, 92 % of lesions were obliterated with a median follow-up of 2.75 years. Functional status remained stable or improved in 68 % of patients, with a significant change between pre- and postoperative scores (P = 0.03). Postoperative complications occurred in 23 % of patients, and AVM recurrence was significantly associated with SM grade (P = 0.005). No mortality was observed in either group.

CONCLUSION

In patients with HHT, cAVMs are typically small, multiple, and low-grade with a low risk of hemorrhage. Both surgical resection and SRS are effective treatment options, though further prospective studies are needed to better define and compare their long-term outcomes.