Incidence, treatment, and outcomes of cavernous malformations in the central nervous system

Cavernous malformations (CM) are vascular anomalies characterized by clustered, thin-walled, enlarged vascular spaces. In the central nervous system, CMs are subclassified as cerebral CM (CCM) or spinal CM (SCM), and prevalence is estimated at approximately 1 in 200 people. CMs may cause hemorrhage, focal neurological deficits (FND), and epileptic seizures, potentially resulting in disability or impaired quality of life. Treatment options are intervention (microsurgical resection or stereotactic radiosurgery) or conservative management. This thesis evaluates incidence, treatment, and outcomes of CMs in the central nervous system. For CCM, incidence was 0.72 per 100,000 individuals per year and was similar between men and women. During long-term follow-up without CCM intervention, the risk of recurrent hemorrhage/FND decreased substantially over five years and was 50-fold lower thereafter, supporting a 5-year time horizon that can be weighed against estimated up-front risks of intervention. After a first unprovoked epileptic seizure due to CCM, the 10-year recurrence risk was 80%, justifying an epilepsy diagnosis after the first seizure. For symptomatic CCM, observational data suggest that intervention is associated with higher risks of persistent functional impairment and hemorrhage/FND than conservative management, which should be confirmed in a randomized controlled trial. When evaluating conservative management as a primary treatment strategy for CCM and SCM, 5% and 18% of patients, respectively, required intervention during follow-up. Although patients reported worse overall health than the general population, mostly due to impaired mental health, the physical outcomes were largely comparable. In a systematic review of 50 studies (2,328 patients) about treatment of SCM, limited study quality precluded definitive conclusions, warranting prospective, multicenter studies.