Diagnosis of Fabry disease via analysis of family history

Journal of Genetic Counseling

Volumn 17, Issue 1, 2008, Pages 79-83

  Laney, Dawn A ^a   Fernhoff, Paul M ^a  

^a EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Diagnosis; Fabry disease; Family history; Lysosomal storage disease; X linked

Indexed keywords

ADULT; ARTICLE; ENZYME REPLACEMENT; FABRY DISEASE; FAMILY HISTORY; FEMALE; GENETIC ASSOCIATION; GENETIC RISK; GENETIC SCREENING; HUMAN; MAJOR CLINICAL STUDY; MALE; MEDICAL SPECIALIST; PEDIGREE; RISK ASSESSMENT; SCREENING TEST;

ADOLESCENT; CHILD; FABRY DISEASE; FEMALE; HUMANS; MALE; PEDIGREE;

EID: 39149133142     PISSN: 10597700     EISSN: 15733599     Source Type: Journal    
DOI: 10.1007/s10897-007-9128-x     Document Type: Article

References (17)

1. Bennett, R. L., Hart, K. A., O'Rourke, E. O., Barranger, J. A., Johnson, J., & MacDermot, K. D., et al. (2002). Fabry disease in genetic counseling practice: Recommendations of the National Society of Genetic Counselors. Journal of Genetic Counseling, 11(2), 121-146.
2. 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.
3. Deegan, P., Baehner, A. F., Barba-Romero, M. A., Hughes, D., Kampmann, C., & Beck, M. (2006). Natural history of Fabry disease in females in the Fabry Outcome Survey. Journal of Medical Genetics, 43, 347-352.
4. Desnick, R. J., & Astrin, K. A. (2004). Fabry Disease. GeneReviews www.genetests.org.
5. 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.
6. 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.
7. Eng, C. M., Germain, D. P., Banikazemi, M., Warnock, D. G., Wanner, C., & Hopkin, R. J., et al. (2006). Fabry disease: Guidelines for the evaluation and management of multi-organ system involvement. Genetics in Medicine, 8(9), 539-548.
8. Eng, C. M., Guffon, N., Wilcox, W. R., Germain, D. P., Lee, P., & Waldek, S., et al. (2001). Safety and efficacy of recombinant human α-galactosidase A replacement therapy in Fabry's disease. New England Journal of Medicine, 345, 9-16.
9. Fabry Registry (2007) Fabry Registry Aggregate Data Annual Report (RADAR). 2007. p. 1.
10. Fabry Support and Information Group (2005) Females with Fabry Disease FSIG Position Statement. http://www.fabry.org/.
11. Gupta, S., Ries, M., Kotsopoulos, S., & Schiffmann, R. (2005). The relationship of vascular glycolipid storage to clinical manifestations of Fabry disease: A cross-sectional study of a large cohort of clinically affected heterozygous women. Medicine, 84, 261-268.
12. MacDermot, K. D., Holmes, A., & Miners, A. H. (2001). Anderson-Fabry disease: Clinical manifestations and impact of disease in a cohort of 60 obligate carrier females. Journal of Medical Genetics, 38, 769-775.
13. Mehta, A., Ricci, R., Widmer, U., Dehout, F., Garcia de Lorenzo, A., & Kapmann, C., et al. (2004). Fabry disease defined: Baseline clinical manifestations of 366 patients in the Fabry outcome survey. European Journal of Clinical Investigation, 34(3), 236-242.
14. Spada, M., Pagliardini, S., Yasuda, M., Tukel, T., Thiagarajan, G., & Sakuraba, H., et al. (2006). High incidence of later-onset Fabry disease revealed by newborn screening. American Journal of Human Genetics, 79(1), 31-40.
15. Street, N. J., Yi, M. S., Bailey, L. A., & Hopkin, R. J. (2006). Comparison of health-related quality of life between heterozygous women with Fabry disease, a healthy control population, and patients with other chronic disease. Genetics in Medicine, 8(6), 346-353.
16. Wang, R. Y., Lelis, A., Mirocha, J., & Wilcox, W. R. (2007). Heterozygous Fabry women are not just carriers, but have a significant burden of disease and impaired quality of life. Genetics in Medicine, 9(1), 34-45.
17. Whybra, C., Kampmann, C., Willers, I., & Davies, J., et al. (2001). Anderson-Fabry disease: Clinical manifestations of disease in female heterozygotes. Journal of Inherited Metabolic Disease, 24, 715-724.