Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2001 May;68(5):1110-8.
doi: 10.1086/320121. Epub 2001 Mar 28.

Mortality in neurofibromatosis 1: an analysis using U.S. death certificates

S A Rasmussen  1 , Q Yang, J M Friedman
Affiliations

Mortality in neurofibromatosis 1: an analysis using U.S. death certificates

S A Rasmussen et al. Am J Hum Genet. 2001 May.

Abstract

Although neurofibromatosis 1 (NF1) is a relatively common autosomal dominant condition, information about its effect on mortality is limited. We used Multiple-Cause Mortality Files, compiled from U.S. death certificates by the National Center for Health Statistics, for 1983 through 1997. We identified 3,770 cases of presumed NF1 among 32,722,122 deaths in the United States, a frequency of 1/8,700, which is one-third to one-half the estimated prevalence. Mean and median ages at death for persons with NF1 were 54.4 and 59 years, respectively, compared with 70.1 and 74 years in the general population. Results of proportionate mortality ratio (PMR) analyses showed that persons with NF1 were 34 times more likely (PMR=34.3, 95% confidence interval [CI] 30.8-38.0) to have a malignant connective or other soft-tissue neoplasm listed on their death certificates than were persons without NF1. Overall, persons with NF1 were 1.2 times more likely than expected (PMR=1.21, 95% CI 1.14-1.28) to have a malignant neoplasm listed on their death certificates, but the PMR was 6.07 (95% CI 4.88-7.45) for persons who died at 10-19 years of age and was 4.93 (95% CI 4.14-5.82) for those who died at 20-29 years of age. Similarly, vascular disease was recorded more often than expected on death certificates of persons with NF1 who died at <30 years of age (PMR=3.26, 95% CI 1.31-6.71 at age <10 years; PMR=2.68, 95% CI 1.38-4.68 at age 10-19 years; and PMR=2.25, 95% CI 1.46-3.32 at 20-29 years) but not in older persons. This study supports previous findings of decreased life expectancy for persons with NF1 and, within the limitations of death certificates, provides population-based data about NF1 morbidity and mortality that are useful to clinicians caring for patients with NF1.

PubMed Disclaimer

Figures

Figure 1
Figure 1
Median (in box) and 5th, 25th, 75th, and 95th percentiles of ages at death of persons with NF1 and of the U.S. general population, for all subjects and by sex, race, and time period.
See this image and copyright information in PMC

Similar articles

See all similar articles

Cited by

See all "Cited by" articles

References

Electronic-Database Information

    1. Online Mendelian Inheritance in Man (OMIM), http://www.ncbi.nlm.nih.gov/Omim (for NF1 [MIM 162200]) - PubMed

References

    1. Ahlbom A (1993) Biostatistics for epidemiologists. Lewis, Boca Raton, FL
    1. Airewele GE, Sigurdson AJ, Wiley KJ, Frieden BE, Caldarera LW, Riccardi VM, Lewis RA, Chintagumpala MM, Ater JL, Plon SE, Bondy ML (2001) Neoplasms in neurofibromatosis 1 are related to gender but not to family history of cancer. Genet Epidemiol 20:75–86 - PubMed
    1. Decoufle P, Thomas TL, Pickle LW (1980) Comparison of the proportionate mortality ratio and standardized mortality ratio risk measures. Am J Epidemiol 111:263–269 - PubMed
    1. Fossali E, Signorini E, Intermite RC, Casalini E, Lovaria A, Maninetti MM, Rossi LN (2000) Renovascular disease and hypertension in children with neurofibromatosis. Pediatr Nephrol 14:806–810 - PubMed
    1. Hattori S, Kiguchi H, Ishii T, Nakajima T, Yatsuzuka H (1998) Moyamoya disease with concurrent von Recklinghausen's disease and cerebral arteriovenous malformation. Pathol Res Pract 194:363–369 - PubMed

Publication types

-