Mortality Associated with Neurofibromatosis 1: A Cohort Study of 1895 Patients in 1980-2006 in France
Neurofibromatosis 1 (NF-1), a common autosomal dominant disorder, was shown in one study to be associated with a 15-year decrease in life expectancy. However, data on mortality in NF-1 are limited.
Our aim was to evaluate mortality in a large retrospective cohort of NF-1 patients seen in France between 1980 and 2006.
Consecutive NF-1 patients referred to the National French Referral Center for Neurofibromatoses were included. The standardized mortality ratio (SMR) with its 95% confidence interval (CI) was calculated as the ratio of observed over expected numbers of deaths.
We studied factors associated with death and causes of death.
Between 1980 and 2006, 1895 NF-1 patients were seen. Median follow-up was 6.8 years (range, 0.4-20.6).
Vital status was available for 1226 (65%) patients, of whom 1159 (94.5%) survived and 67 (5.5%) died. Overall mortality was significantly increased in the NF-1 cohort (SMR, 2.02; CI, 1.6-2.6; P<10-4).
The excess mortality occurred among patients aged 10 to 20 years (SMR, 5.2; CI, 2.6-9.3; P<10-4) and 20 to 40 years (SMR, 4.1; 2.8-5.8; P<10-4). Significant excess mortality was found in both males and females.
In the 10-20 year age group, females had a non significant increase in mortality compared to males (SMR, 12.6; CI, 5.7-23.9; and SMR, 1.8; CI, 0.2-6.4; respectively). The cause of death was available for 58 (86.6 %) patients; malignant nerve sheath tumor was the main cause of death (60%).
We found significantly increased SMRs indicating excess mortality in NF1 patients compared to the general population.
The definitive diagnosis of NF-1 in all patients is a strength of our study, and the high rate of death related to malignant transformation is consistent with previous work. The retrospective design and hospital-based recruitment are limitations of our study.
Mortality was significantly increased in NF-1 patients aged 10 to 40 years and tended to be higher in females than in males.
Author: Tu Anh DuongEmilie SbidianLaurence Valeyrie-AllanoreCedric VialetteSalah FerkalSmail Hadj-RabiaChristophe GlorionStanislas LyonnetMichel ZerahIsabelle KemlinDiana RodriguezSylvie Bastuji-GarinPierre Wolkenstein
Credits/Source: Orphanet Journal
Published on: 2011-05-04
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