☆ 4.5 Article

Mortality Associated with Neurofibromatosis 1: A Cohort Study of 1895 Patients in 1980-2006 in France

ORPHANET JOURNAL OF RARE DISEASES (2011)

期刊

ORPHANET JOURNAL OF RARE DISEASES

卷 6, 期 -, 页码 -

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BMC

DOI: 10.1186/1750-1172-6-18

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Genetics & Heredity Medicine, Research & Experimental

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Association Neurofibromatoses et Recklinghausen
Ligue francaise de lutte contre les Neurofibromatoses

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摘要

Background: Neurofibromatosis 1 (NF1), 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 NF1 are limited. Our aim was to evaluate mortality in a large retrospective cohort of NF1 patients seen in France between 1980 and 2006. Methods: Consecutive NF1 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 NF1 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 NF1 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 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 NF1 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 NF1 patients aged 10 to 40 years and tended to be higher in females than in males.

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Cohort profile: life with neurofibromatosis 1-the Danish NF1 cohort

Karoline Doser, Hanne Hove, John R. Ostergaard, Pernille E. Bidstrup, Susanne O. Dalton, Mette Moller Handrup, Cecilie Ejerskov, Anja Kroyer, Mia Aagaard Doherty, Jens Richardt Mollegaard Jepsen, John J. Mulvihill, Jeanette F. Winther, Line Kenborg

Summary: The Danish NF1 cohort study aims to examine the health-related, socioeconomic, and psychological consequences of living with NF1 using a nationwide and population-based approach. The cohort includes all individuals in Denmark who were hospitalised or registered with NF1 from 1977 to 2013. The findings so far reveal increased risks for various disorders, psychiatric conditions, lower education levels, and difficulties in forming partnerships among individuals with NF1. Women with NF1 also have higher risks of spontaneous abortions and stillbirths. The study highlights the impaired quality of life and need for professional support among adults with NF1.

BMJ OPEN (2022)