title: Diagnosis of Fabry disease via analysis of family history.
abstract: Fabry disease is an X-linked lysosomal storage condition caused by a deficiency of alpha-galactosidase A. In order to determine the average number of family members who are diagnosed with Fabry disease following the diagnosis of a proband, four lysosomal storage disease centers across the United States reviewed the completed pedigrees of their Fabry disease patients. In addition, data from three Fabry disease families from other centers were submitted by patients directly. The pedigree review found 74 probands (54 males and 20 females) who had 357 diagnosed family members, of which 223 were female (60.5%) and 146 were male (39.5%). Analysis found that, on average, there were five family members diagnosed with Fabry disease for every proband. Now that enzyme replacement therapy (ERT) is available for the treatment of Fabry disease, this finding emphasizes the need for all health care professionals to ensure a detailed pedigree has been constructed for each patient affected by Fabry disease and to encourage testing and evaluation of all at-risk family members.
authors.affiliation: Emory Department of Human Genetics, 2165 North Decatur Road, Decatur, GA 30033, USA. dlaney@genetics.emory.edu
authors.forename: Dawn A
authors.initials: DA
authors.lastname: Laney
authors.forename: Paul M
authors.initials: PM
authors.lastname: Fernhoff
mesh_terms: D000293:Adolescent; D002648:Child; D000795:Fabry Disease / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D010375:Pedigree