Mortality Associated with Neurofibromatosis 1: A Cohort Study of 1895 Patients in 1980-2006 in France
<p>Abstract</p> <p>Background</p> <p>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...
| Main Authors: | , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2011-05-01
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| Series: | Orphanet Journal of Rare Diseases |
| Online Access: | http://www.ojrd.com/content/6/1/18 |
| _version_ | 1818362224840802304 |
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| author | Hadj-Rabia Smaïl Ferkal Salah Vialette Cédric Valeyrie-Allanore Laurence Sbidian Emilie Duong Tu Glorion Christophe Lyonnet Stanislas Zerah Michel Kemlin Isabelle Rodriguez Diana Bastuji-Garin Sylvie Wolkenstein Pierre |
| author_facet | Hadj-Rabia Smaïl Ferkal Salah Vialette Cédric Valeyrie-Allanore Laurence Sbidian Emilie Duong Tu Glorion Christophe Lyonnet Stanislas Zerah Michel Kemlin Isabelle Rodriguez Diana Bastuji-Garin Sylvie Wolkenstein Pierre |
| author_sort | Hadj-Rabia Smaïl |
| collection | DOAJ |
| description | <p>Abstract</p> <p>Background</p> <p>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.</p> <p>Methods</p> <p>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.</p> <p>Results</p> <p>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; <it>P </it>< 10<sup>-4</sup>). The excess mortality occurred among patients aged 10 to 20 years (SMR, 5.2; CI, 2.6-9.3; <it>P </it>< 10<sup>-4</sup>) and 20 to 40 years (SMR, 4.1; 2.8-5.8; <it>P </it>< 10<sup>-4</sup>). 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%).</p> <p>Conclusions</p> <p>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.</p> |
| first_indexed | 2024-12-13T21:29:11Z |
| format | Article |
| id | doaj.art-92cf141b03d44a09a1ed444d775655fc |
| institution | Directory Open Access Journal |
| issn | 1750-1172 |
| language | English |
| last_indexed | 2024-12-13T21:29:11Z |
| publishDate | 2011-05-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj.art-92cf141b03d44a09a1ed444d775655fc2022-12-21T23:30:52ZengBMCOrphanet Journal of Rare Diseases1750-11722011-05-01611810.1186/1750-1172-6-18Mortality Associated with Neurofibromatosis 1: A Cohort Study of 1895 Patients in 1980-2006 in FranceHadj-Rabia SmaïlFerkal SalahVialette CédricValeyrie-Allanore LaurenceSbidian EmilieDuong TuGlorion ChristopheLyonnet StanislasZerah MichelKemlin IsabelleRodriguez DianaBastuji-Garin SylvieWolkenstein Pierre<p>Abstract</p> <p>Background</p> <p>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.</p> <p>Methods</p> <p>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.</p> <p>Results</p> <p>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; <it>P </it>< 10<sup>-4</sup>). The excess mortality occurred among patients aged 10 to 20 years (SMR, 5.2; CI, 2.6-9.3; <it>P </it>< 10<sup>-4</sup>) and 20 to 40 years (SMR, 4.1; 2.8-5.8; <it>P </it>< 10<sup>-4</sup>). 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%).</p> <p>Conclusions</p> <p>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.</p>http://www.ojrd.com/content/6/1/18 |
| spellingShingle | Hadj-Rabia Smaïl Ferkal Salah Vialette Cédric Valeyrie-Allanore Laurence Sbidian Emilie Duong Tu Glorion Christophe Lyonnet Stanislas Zerah Michel Kemlin Isabelle Rodriguez Diana Bastuji-Garin Sylvie Wolkenstein Pierre Mortality Associated with Neurofibromatosis 1: A Cohort Study of 1895 Patients in 1980-2006 in France Orphanet Journal of Rare Diseases |
| title | Mortality Associated with Neurofibromatosis 1: A Cohort Study of 1895 Patients in 1980-2006 in France |
| title_full | Mortality Associated with Neurofibromatosis 1: A Cohort Study of 1895 Patients in 1980-2006 in France |
| title_fullStr | Mortality Associated with Neurofibromatosis 1: A Cohort Study of 1895 Patients in 1980-2006 in France |
| title_full_unstemmed | Mortality Associated with Neurofibromatosis 1: A Cohort Study of 1895 Patients in 1980-2006 in France |
| title_short | Mortality Associated with Neurofibromatosis 1: A Cohort Study of 1895 Patients in 1980-2006 in France |
| title_sort | mortality associated with neurofibromatosis 1 a cohort study of 1895 patients in 1980 2006 in france |
| url | http://www.ojrd.com/content/6/1/18 |
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