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.

Methods: 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.

Results: 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%).

Conclusions: 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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