Management and Screening in Neurofibromatosis Types 1 and 2

AbstractPurpose of ReviewNeurofibromatosis types 1 and 2 (NF1& NF2) are complex genetic diseases that provide challenges in diagnosis, monitoring, clinical management and genetic counselling. This review highlights these challenges and provides insight into the general and specialist management considerations.Recent FindingsMultidisciplinary care with a focus on evidence based interventions and quality of life outcomes has benefited patients. Anti-VEGF therapy has recently altered the management paradigm for NF2. Other novel molecularly targeted therapies are being trialled in both NF1 and NF2. Improved understanding of associated risks and natural history has informed screening regimes.SummaryBoth diseases have significant associated morbidity and mortality, with the prognosis for some patients with NF2 particularly poor. A holistic and multidisciplinary approach provides the best model of care.
Source: Current Genetic Medicine Reports - Category: Genetics & Stem Cells Source Type: research