Epidemiology of neurofibromatosis type 1

Neurofibromatosis type 1 (NF1) is an inherited disease characterized by skin hyperpigmentation (most commonly café au lait), multiple tumors in the central and peripheral nervous system, vascular changes, and cognitive impairments. NF1 is predominantly inherited disease, affecting both genders, and in half of the cases it is a de novo mutation. There is a great variability of the disease manifestations even among members of the same family. Life expectancy in patients with NF1 is reduced by 10-15 years on average, with malignancies being the most common cause of death. Even though there are established clinical diagnostic criteria, more than a half of sporadic cases may remain unrecognized in early childhood. Recently, an improvement of the NF1 diagnosis has been observed due to increased awareness and implementation of advanced molecular – genetic and imaging technologies. Patients with NF1 need adequate care and must be monitored closely by competent healthcare professionals utilising a multidisciplinary approach. This publication aims to analyze the available epidemiological data on NF1, as well as to provide an insight into NF1 prevalence in Bulgaria. For more information click here.