Diagnosis of Fabry Disease via Analysis of Family History
- 919 Downloads
Fabry disease is an X-linked lysosomal storage condition caused by a deficiency of α-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.
KeywordsFabry disease Family history Diagnosis Lysosomal storage disease X-linked
We thank Fabry Support and Information Group and the families who participated in this study by sharing their pedigrees. We gratefully acknowledge Angie Fox, MS and the University of Washington, Brooke Smith, MS and the Greenwood Genetic Center, and CeeCee Fairley, MS and the University of California—San Francisco for generously sharing their time and pedigree review data. No grant of financial support was provided for this study.
- Brady, R. O., Murray, G. J., Moore, D. F., & Schiffmann, R. (2001). Enzyme replacement therapy in Fabry disease. Journal of Inherited Metabolic Disease 18–24.Google Scholar
- Desnick, R. J., & Astrin, K. A. (2004). Fabry Disease. GeneReviews www.genetests.org.
- Desnick, R. J., Brady, R., Barranger, J., Collins, A. J., Germain, D. P., & Goldman, M., et al. (2003). Fabry disease, an under-recognized multisystemic disorder: Expert recommendations for diagnosis, management, and enzyme replacement therapy. Annals of Internal Medicine, 138, 338–346.PubMedGoogle Scholar
- Desnick, R. J., Ioannou, Y., & Eng, C. M. (2001). a-galactosidase A deficiency: Fabry disease. In C. R. Scriver, A. L. Beaudet, W. S. Sly, & D. Valle (Eds.) The metabolic and molecular bases of inherited disease (vol. 3, (pp. 3733–3774)8th ed.). New York: McGraw-Hill.Google Scholar
- Fabry Registry (2007) Fabry Registry Aggregate Data Annual Report (RADAR). 2007. p. 1.Google Scholar
- Fabry Support and Information Group (2005) Females with Fabry Disease FSIG Position Statement. http://www.fabry.org/.