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Demographic Studies from a National Gaucher Disease Screening Program
Author(s) -
Gag Deborah M.,
Pergament Eugene,
Fine Beth A.
Publication year - 1998
Publication title -
journal of genetic counseling
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.867
H-Index - 52
eISSN - 1573-3599
pISSN - 1059-7700
DOI - 10.1023/a:1022876631088
Subject(s) - disease , medicine , glucocerebrosidase , public health , statistical significance , family history , pediatrics , pathology
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.