EPID-33. MORTALITY AND CAUSE OF DEATH RELATED TO CLINICAL AND GENETIC SEVERITY IN PATIENTS WITH NEUROFIBROMATOSIS TYPE 2 – SCHWANNOMATOSIS

Abstract

Abstract OBJECTIVES This study aimed to investigate the circumstances of death in NF2 patients, focusing on clinical and genetic severity. METHODS Data from three major German NF2 centers were analyzed retrospectively. A total of 199 patients were included, with follow-up periods ranging from 6 months to 30 years. Disease severity was assessed using clinical and genetic classification scales with three grades each. At the time of data analysis, 36 patients had died in all three centers combined. RESULTS Of the 36 deceased patients, 47.2% had moderate clinical severity, 38.9% had severe disease, 13,9% were classified as grade 1. Genetic severity could be determined for 15 patients with 66.7% categorized as a moderate NF2 and 20.0% as genetically severe NF2. Only 13.3% had tissue mosaicism associated with a mild genetic severity. Patients with moderate clinical severity died at a mean age of 44.5 years (± 20.97), patients in grade 3 died at 46.89 years (± 11.71), and grade 1 patients died at 35.1 years (± 31.36) in this cohort. Patients with the highest genetic severity score died earlier (mean age = 35.5 years ± 2.29) than those with a moderate severity (51.3 years ± 21.65). The most common causes of death were malignant neoplasms, cerebral insults, and pneumonia, each accounting for three of the cases. Other causes of death included road traffic fatalities, septic shock, cerebral compression, and suicide, with 16.6% of cases involving attempted suicide. CONCLUSIONS The study emphasizes the need for a wider registry to assess prognosis, to stratify major risk factors causing mortality in NF2 and to verify correlations to clinical and genetic severity scales. Increased suicide and attempted suicide rates among NF2 patients highlight the importance of psychological counseling in patient management.