LIFE EXPECTANCY, MORTALITY AND PROGNOSTIC FACTORS IN NEUROFIBROMATOSIS TYPE-1 - A 12-YEAR FOLLOW-UP OF AN EPIDEMIOLIGICAL STUDY IN GOTEBORG, SWEDEN

Neurofibromatosis type 1 (NF1) is a genetic disease with an extremely wide range of manifestations, As yet, the individual course of NF1 can not be predicted, and it is uncertain to what extent the disorder is a ssociated with increased mortality, In order to gain insights into the se aspects, we have conducted a 12-year follow-up study of 70 adult NF 1 patients in the city of Goteborg, Sweden, whereby life expectancy, m ortality, causes of death and the prognostic value of clinical finding s were investigated. Clinical examinations were made, and all availabl e records, including medical files, death certificates, and autopsy re ports were scrutinized, The survival in the NF1 cohort was compared to that in the general Swedish population. Twenty-two deaths occurred in the NF1 group, whereas 5.1 deaths were expected in the general Swedis h population (p = <0.001). The mean age at death was 61.6 years, Malig nancy was found in 12 (55%) of the deceased (soft tissure sarcomas in 3, and carcinomas in 9), Severe complications related to NF1 were seen in 27%, Hypertension was significantly associated with increased mort ality, as 10 out of 12 (83%) patients with hypertension died during th e observation period. NF1 was associated with increased mortality due to malignancy and NF1-related complications.