Demographic Studies from a National Gaucher Disease Screening Program

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Abstract

In May 1993, the National Gaucher Foundation initiated a nationwide Gaucher disease screening program in an attempt to promote recognition of the disease and to detect previously undiagnosed individuals. The program was based on self-selection by clinical symptoms of individuals who wanted to be tested for Gaucher disease. Information about symptoms, age, ancestry, gender, and family history was obtained via a self-report screening form completed by 700 individuals. Individuals designated at “high risk” for Gaucher disease were offered beta-glucocerebrosidase enzyme assay testing. Twenty-four of the respondents (3.4%) had Gaucher disease. The most commonly reported symptoms were fatigue (79.4%), bone pain (73.7%), and tendency to bruise (67.8%). The symptoms which showed a statistical difference between the “high risk” and “low risk” groups were liver enlargement (p < 0.005) and unexplained bone fractures (p < 0.03). The mean number of positive symptoms also showed a statistical difference between the groups (4.38 symptoms vs. 3.86 symptoms; p < 0.02). Due to the small sample size, no statistical comparisons were made on the symptomatology of affected vs. unaffected persons, but a descriptive analysis of these two groups is reported.

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