Multisystem burden of neurofibromatosis 1 in Denmark: registry- and population-based rates of hospitalizations over the life span.
cohort study
hospitalizations
neurofibromatosis 1
population-based
Journal
Genetics in medicine : official journal of the American College of Medical Genetics
ISSN: 1530-0366
Titre abrégé: Genet Med
Pays: United States
ID NLM: 9815831
Informations de publication
Date de publication:
06 2020
06 2020
Historique:
received:
07
08
2019
accepted:
14
02
2020
pubmed:
29
2
2020
medline:
28
4
2021
entrez:
29
2
2020
Statut:
ppublish
Résumé
The aim was to assess lifetime risk for hospitalization in individuals with neurofibromatosis 1 (NF1). The 2467 individuals discharged with a diagnosis indicating NF1 or followed in a clinical center for NF1 were matched to 20,132 general population comparisons. Based on diagnoses in 12 main diagnostic groups and 146 subcategories, we calculated rate ratios (RRs), absolute excess risks (AERs), and hazard ratios for hospitalizations. The RR for any first hospitalization among individuals with NF1 was 2.3 (95% confidence interval 2.2-2.5). A high AER was seen for all 12 main diagnostic groups, dominated by disorders of the nervous system (14.5% of all AERs), benign (13.6%) and malignant neoplasms (13.4%), and disorders of the digestive (10.5%) and respiratory systems (10.3%). Neoplasms, nerve and peripheral ganglia disease, pneumonia, epilepsy, bone and joint disorders, and intestinal infections were major contributors to the excess disease burden caused by NF1. Individuals with NF1 had more hospitalizations and spent more days in hospital than the comparisons. The increased risk for any hospitalization was observed for both children and adults, with or without an associated cancer. NF1 causes an overall greater likelihood of hospitalization, with frequent and longer hospitalizations involving all organ systems throughout life.
Identifiants
pubmed: 32107470
doi: 10.1038/s41436-020-0769-6
pii: S1098-3600(21)00840-6
doi:
Types de publication
Journal Article
Research Support, U.S. Gov't, Non-P.H.S.
Langues
eng
Sous-ensembles de citation
IM
Pagination
1069-1078Références
Huson SM, Compston DA, Clark P, Harper PS. A genetic study of von Recklinghausen neurofibromatosis in south east Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission on severity. J Med Genet. 1989;26:704–711.
doi: 10.1136/jmg.26.11.704
Lammert M, Friedman JM, Kluwe L, Mautner VF. Prevalence of neurofibromatosis 1 in German children at elementary school enrollment. Arch Dermatol. 2005;141:71–74.
doi: 10.1001/archderm.141.1.71
Hirbe AC, Gutmann DH. Neurofibromatosis type 1: a multidisciplinary approach to care. Lancet Neurol. 2014;13:834–843.
doi: 10.1016/S1474-4422(14)70063-8
Neurofibromatosis. Conference statement. National Institutes of Health Consensus Development Conference. Arch Neurol. 1988;45:575–578.
Riccardi VM, Lewis RA. Penetrance of von Recklinghausen neurofibromatosis: a distinction between predecessors and descendants. Am J Hum Genet. 1988;42:284–289.
pubmed: 3124613
pmcid: 1715266
Ferner RE. Neurofibromatosis 1 and neurofibromatosis 2: a twenty first century perspective. Lancet Neurol. 2007;6:340–351.
doi: 10.1016/S1474-4422(07)70075-3
Sorensen SA, Mulvihill JJ, Nielsen A. Long-term follow-up of von Recklinghausen neurofibromatosis. Survival and malignant neoplasms. N Engl J Med. 1986;314:1010–1015.
doi: 10.1056/NEJM198604173141603
Zoller M, Rembeck B, Akesson HO, Angervall L. Life expectancy, mortality and prognostic factors in neurofibromatosis type 1. A twelve-year follow-up of an epidemiological study in Goteborg, Sweden. Acta Derm Venereol. 1995;75:136–140.
pubmed: 7604643
Rasmussen SA, Yang Q, Friedman JM. Mortality in neurofibromatosis 1: an analysis using U.S. death certificates. Am J Hum Genet. 2001;68:1110–1118.
doi: 10.1086/320121
Uusitalo E, Rantanen M, Kallionpaa RA, et al. Distinctive cancer associations in patients with neurofibromatosis type 1. J Clin Oncol. 2016;34:1978–1986.
doi: 10.1200/JCO.2015.65.3576
Heerva E, Koffert A, Jokinen E, et al. A controlled register-based study of 460 neurofibromatosis 1 patients: increased fracture risk in children and adults over 41 years of age. J Bone Miner Res. 2012;27:2333–2337.
doi: 10.1002/jbmr.1685
Friedman JM, Arbiser J, Epstein JA, et al. Cardiovascular disease in neurofibromatosis 1: report of the NF1 Cardiovascular Task Force. Genet Med. 2002;4:105–111.
doi: 10.1097/00125817-200205000-00002
Rosser TL, Packer RJ. Neurocognitive dysfunction in children with neurofibromatosis type 1. Curr Neurol Neurosci Rep. 2003;3:129–136.
doi: 10.1007/s11910-003-0064-3
Seminog OO, Goldacre MJ. Risk of benign tumours of nervous system, and of malignant neoplasms, in people with neurofibromatosis: population-based record-linkage study. Br J Cancer. 2013;108:193–198.
doi: 10.1038/bjc.2012.535
de Fine Licht S, Rugbjerg K, Gudmundsdottir T, et al. Long-term inpatient disease burden in the Adult Life after Childhood Cancer in Scandinavia (ALiCCS) study: a cohort study of 21,297 childhood cancer survivors. PLoS Med. 2017;14:e1002296.
doi: 10.1371/journal.pmed.1002296
Stricker CT, Jacobs LA. Physical late effects in adult cancer survivors. Oncology (Williston Park). Nurse Ed. 2008;22(8 Suppl):33–41.
Lynge E, Sandegaard JL, Rebolj M. The Danish National Patient Register. Scand J Public Health. 2011;39:30–33.
doi: 10.1177/1403494811401482
Ferner RE. The neurofibromatoses. Pract Neurol. 2010;10:82–93.
doi: 10.1136/jnnp.2010.206532
National Institutes of Health Consensus Development Conference Statement: neurofibromatosis. Bethesda, Md., USA, July 13–15, 1987. Neurofibromatosis. 1988;1:172–8
Gjerstorff ML. The Danish Cancer Registry. Scand J Public Health. 2011;39:42–45.
doi: 10.1177/1403494810393562
Hengelbrock J, Gillhaus J, Kloss S, Leverkus F. Safety data from randomized controlled trials: applying models for recurrent events. Pharm Stat. 2016;15:315–323.
doi: 10.1002/pst.1757
R Core Team. R: a language and environment for statistical computing. Vienna, Austria: R Foundation for Statistical Computing; 2017.
Riccardi VM. Neurofibromatosis type 1 is a disorder of dysplasia: the importance of distinguishing features, consequences, and complications. Birth Defects Res A Clin Mol Teratol. 2010;88:9–14.
pubmed: 19691086
Pecoraro A, Arehart E, Gallentine W, et al. Epilepsy in neurofibromatosis type. Epilepsy Behav. 2017;73:137–141.
doi: 10.1016/j.yebeh.2017.05.011
Madubata CC, Olsen MA, Stwalley DL, Gutmann DH, Johnson KJ. Neurofibromatosis type 1 and chronic neurological conditions in the United States: an administrative claims analysis. Genet Med. 2015;17:36–42.
doi: 10.1038/gim.2014.70
Ostendorf AP, Gutmann DH, Weisenberg JL. Epilepsy in individuals with neurofibromatosis type 1. Epilepsia. 2013;54:1810–1814.
doi: 10.1111/epi.12348
Creange A, Zeller J, Rostaing-Rigattieri S, et al. Neurological complications of neurofibromatosis type 1 in adulthood. Brain. 1999;122:473–481.
doi: 10.1093/brain/122.3.473
Huson SM, Harper PS, Compston DA. Von Recklinghausen neurofibromatosis. A clinical and population study in south-east Wales. Brain. 1988;111:1355–1381.
doi: 10.1093/brain/111.6.1355
Friedman JM, Birch PH. Type 1 neurofibromatosis: a descriptive analysis of the disorder in 1,728 patients. Am J Med Genet. 1997;70:138–143.
doi: 10.1002/(SICI)1096-8628(19970516)70:2<138::AID-AJMG7>3.0.CO;2-U
Riccardi VM. Neurofibromatosis: phenotype, natural history, and pathogenesis. 2nd ed. Baltimore, MD: Johns Hopkins University Press; 1992.
Kenborg L, Winther JF, Linnet KM, et al. Neurologic disorders in 4858 survivors of central nervous system tumors in childhood-an Adult Life after Childhood Cancer in Scandinavia (ALiCCS) study. Neuro Oncol. 2019;21:125–136.
doi: 10.1093/neuonc/noy094
Basile U, Cavallaro G, Polistena A, et al. Gastrointestinal and retroperitoneal manifestations of type 1 neurofibromatosis. J Gastrointest Surg. 2010;14:186–194.
doi: 10.1007/s11605-009-0940-5
Ejerskov C, Krogh K, Ostergaard JR, Fassov JL, Haagerup A. Constipation in adults with neurofibromatosis type 1. Orphanet J Rare Dis. 2017;12:139.
doi: 10.1186/s13023-017-0691-4
Uusitalo E, Kallionpää RA, Kurki S, et al. Breast cancer in neurofibromatosis type 1: overrepresentation of unfavourable prognostic factors. Br J Cancer. 2017;116:211–217.
doi: 10.1038/bjc.2016.403
Terry AR, Jordan JT, Schwamm L, Plotkin SR. Increased risk of cerebrovascular disease among patients with neurofibromatosis type 1: population-based approach. Stroke. 2016;47:60–65.
doi: 10.1161/STROKEAHA.115.011406
Martins AS, Jansen AK, Rodrigues LOC, et al. Lower fasting blood glucose in neurofibromatosis type 1. Endocr Connect. 2016;5:28–33.
doi: 10.1530/EC-15-0102
Martins AS, Jansen AK, Rodrigues LOC, et al. Increased insulin sensitivity in individuals with neurofibromatosis type 1. Arch Endocrinol Metab. 2018;62:41–46.
doi: 10.20945/2359-3997000000007