Life expectancy in Gaucher disease type 1

University Research Foundation for Lysosomal Storage Diseases, Northwest Oncology Hematology Associates PA, 8170 Royal Palm Boulevard, Coral Springs, Florida 33065, USA.
American Journal of Hematology (Impact Factor: 3.8). 12/2008; 83(12):896-900. DOI: 10.1002/ajh.21305
Source: PubMed


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.

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    • "The average life expectancy at birth for a patient with type 1 disease in the modern era was found to be 68 years, compared with 77 years in the standard US population. Splenectomized and nonsplenectomized patients had a life expectancy of 64 and 72 years, respectively.67 Symptomatic patients may die prematurely from the consequences of splenectomy, severe bone disease, bleeding, infection, liver failure, or severe pulmonary disease.20,67 "
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    • "The predominant clinical manifestations of the disease are hepatosplenomegaly, peripheral blood cytopenias, and skeletal disease. Although patients with GD are not reported to suffer from a disproportionate number of cerebrovascular or cardiovascular events, reduced plasma concentrations of total cholesterol (TC), low-density lipoprotein cholesterol (LDL-c), and high-density lipoprotein cholesterol (HDL-c) have been described in patients with type 1 Gaucher disease (GD1) [2] [3] [4] [5]. In addition, the apolipoproteins that are part of the structure of the HDL and LDL particles (apoA-I and apoB, respectively) were decreased by 40–50% relative to the general population, while apoE was increased by over 30% [2]. "
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