title: Life expectancy in Gaucher disease type 1.
abstract: We estimated life expectancy at birth for Gaucher disease type 1 (GD1) patients by comparing survival data from GD1 patients enrolled in ICGG Gaucher Registry to the U.S. population using standard life table methods. 2,876 GD1 patients had 102 reported deaths in 13,509 person-years of follow-up. Estimated life expectancy at birth was 68 y, compared with 77 y in reference population; splenectomized patients, 64 y; nonsplenectomized, 72 y. Causes of death for 63/102 patients were malignancy (17/63), cardiovascular (11/63), and cerebrovascular (8/63). Estimated life expectancy at birth for GD1 patients was approximately 9 y less than reference population. Malignancies did not contribute to shortened life expectancy.
authors.affiliation: University Research Foundation for Lysosomal Storage Diseases, Northwest Oncology Hematology Associates PA, 8170 Royal Palm Boulevard, Coral Springs, Florida 33065, USA.
authors.forename: Neal J
authors.initials: NJ
authors.lastname: Weinreb
authors.forename: Patrick
authors.initials: P
authors.lastname: Deegan
authors.forename: Katherine A
authors.initials: KA
authors.lastname: Kacena
authors.forename: Pramod
authors.initials: P
authors.lastname: Mistry
authors.forename: Gregory M
authors.initials: GM
authors.lastname: Pastores
authors.forename: Priscilla
authors.initials: P
authors.lastname: Velentgas
authors.forename: Stephan
authors.initials: S
authors.lastname: vom Dahl
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D002675:Child, Preschool; D005060:Europe / Q000453:epidemiology; D005260:Female; D005776:Gaucher Disease / Q000235:genetics / Q000401:mortality* / Q000601:surgery; D005838:Genotype; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008017:Life Expectancy; D008297:Male; D008875:Middle Aged; D012042:Registries; D013156:Splenectomy; D014481:United States / Q000453:epidemiology; D055815:Young Adult