Mortality in neurofibromatosis 1

Abstract

Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant inherited disorders. Life expectancy can be substantially reduced by some of the tumour complications such as malignant peripheral nerve sheath tumours (MPNST) and gliomas. In addition, cardiovascular complications can cause early death. Several studies have assessed mortality risk in NF1 with reductions in life expectancy of 8-20 years. These reductions appear to be similar for both men and women, although the relative risk of dying from malignancy may be higher in women. There have been two types of study to assess life expectancy: cohort studies and death certification studies. Cohort studies are affected by methods of ascertainment, and death certificates are limited by the under-reporting of NF1 on death certificates. Most of the excess mortality appears to be at ages less than 50 years, and rates after this appear close to normal. NF1 individuals who live beyond 50 years may have close-to-normal life expectancy.