Fabry disease practice guidelines: Recommendations of the national society of genetic counselors

Journal of Genetic Counseling

Volumn 22, Issue 5, 2013, Pages 555-564

  Laney, Dawn A ^a   Bennett, Robin L ^b   Clarke, Virginia ^c   Fox, Angela ^d   Hopkin, Robert J ^e   Johnson, Jack ^f   O'Rourke, Erin ^g   Sims, Katherine ^h   Walter, Gerald ⁱ  

^a EMORY UNIVERSITY   (United States)

^b UNIVERSITY OF WASHINGTON MEDICAL CENTER   (United States)

^c MASSACHUSETTS GENERAL HOSPITAL   (United States)

^d Sera Prognostics   (United States)

^e CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

^f Fabry Support and Information Group   (United States)

^g GENZYME CORPORATION   (United States)

^h HARVARD MEDICAL SCHOOL   (United States)

ⁱ National Fabry Disease Foundation   (United States)

Author keywords

Enzyme replacement therapy; Fabry disease; Genetic counseling; Lysosomal storage diseases; Newborn screening

Indexed keywords

ARTICLE; FABRY DISEASE; FEMALE; GENETIC COUNSELING; GENETICS; HUMAN; MALE; MEDICAL SOCIETY; PRACTICE GUIDELINE;

FABRY DISEASE; FEMALE; GENETIC COUNSELING; HUMANS; MALE; SOCIETIES, MEDICAL;

EID: 84885479565     PISSN: 10597700     EISSN: 15733599     Source Type: Journal    
DOI: 10.1007/s10897-013-9613-3     Document Type: Article

References (71)

1. Abe, A., Gregory, S., Lee, L., Killen, P. D., Brady, R. O., Kulkarni, A., et al. (2000). Reduction of globotriaosylceramide in Fabry disease mice by substrate deprivation. The Journal of Clinical Investigation, 105, 1563-1571.
2. Albano, L. M., Rivitti, C., Bertola, D. R., Honjo, R. S., Kelmann, S. V., Giugliana, R., et al. (2010). Angiokeratoma: a cutaneous marker of Fabry's disease. Clinical and Experimental Dermatology, 35(5), 505-508.
3. Ashton-Prolla, P., Tong, B., Shabeer, J., Eng, C. M., & Desnick, R. J. (2000). 22 novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations including mild hemizygotes and severely affected heterozygotes. Journal of Investigative Medicine, 48, 227.
4. Banikazemi, M., Bultas, J., Waldek, S., Wilcox, W. R., Whitley, C. B., McDonald, M., et al. (2007). Agalsidase-beta therapy for advanced Fabry disease: a randomized trial. Annals of Internal Medicine, 146(2), 77-86.
5. Bennett, R. L. (2010a). The practical guide to the genetic family history (2nd ed.). Hoboken: Blackwell.
6. Bennett, R. L. (2010b). Genetic counseling and psychosocial issues for individuals and their families with Fabry disease. In Elstein D, Altarescu G, Beck M (Eds.), Fabry disease. New York: Springer.
7. Bennett, R. L., Steinhaus, K. A., Uhrich, S. B., O'Sullivan, C. K., Resta, R. G., Lochner-Doyle, D., et al. (1995). Recommendations for standardized pedigree nomenclature. American Journal of Human Genetics, 56, 745-752.
8. Bennett, R. L., Hart, K. A., O'Rourke, E. O., 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.
9. Bennett, R. L., Steinhaus, K. A., Resta, R. G., & Doyle, D. L. (2008). Standardized human pedigree nomenclature: update and assessment of the recommendations of the National Society of Genetic Counselors. Journal of Genetic Counseling, 7(5), 424-433.
10. Brady, R. O., & Schiffmann, R. (2000). Clinical features of and recent advances in therapy for Fabry disease. Journal of the American Medical Association, 284, 2771-2775.
11. Brower, A., Hoffman, A. J., Thompson, B. H, & Watson, M. S. (2011). Utilization of the newborn screening translational research network to advance research and clinical applications in lysosomal storage disorders. 7th WORLD symposium 2011.
12. Chimenti, C., Pieroni, M., Morgante, E., et al. (2004). Prevalaence of Fabry disease in female patients with late-onset hypertrophic cardiomyopathy. Circulation, 110(9), 1047-1053. Epub 2004 Aug 16.
13. Clarke, A. (Ed.). (1998). The genetic testing of children. Oxford: BIOS Scientific.
14. Clarke, A., & Flinter, F. (1996). The genetic testing of children: A clinical perspective. In T. Marteau & M. Richards (Eds.), The troubled helix: Social and psychological implications of the new human genetics (pp. 164-176). New York: Cambridge University Press.
15. Colombi, A., Kostyal, A., Bracher, R., Gloor, F., Mazzi, R., & Tholen, H. (1967). Angiokeratoma corporis diffusum: Fabry's disease. Helvetica Medica Acta, 34, 67-83.
16. Davis, D. S. (1997). Genetic dilemmas and the child's right to an open future. The Hastings Center Report, 27, 7-15.
17. Desnick, R. J. (2004). Enzyme replacement therapy for Fabry disease: lessons from two alpha-galactosidase A orphan products and one FDA approval. Expert Opinion on Biological Therapy, 4, 1167-1176.
18. Desnick, R., & Ioannou, Y., (2006). Eng C. α-Galactosidase A deficiency: Fabry disease. In: Valle D, Baudette A, Vogelstein KC, (Eds.), The online metabolic & molecular bases of inherited disease. McGraw-Hill Companies Inc. www.ommbid.com, accessed Mar 2011.
19. Desnick, R. J., Brady, R., Barranger, J., 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.
20. Dink, A., Sims, I., Pay, S., Calgary, K., & Can, C. (2000). Fabry's disease mimicking familial Mediterranean fever. Clinical and Experimental Rheumatic, 18, 787-788.
21. Elstein, D., Altars, G., & Beck, M. (ends) (2010). Fabry disease, Springer.
22. Eng, C. M., Banikazemi, M., Gordon, R. E., Goldman, M., Phelps, R., Kim, L., et al. (2001a). A phase 1/2 clinical trial of enzyme replacement in Fabry disease: pharmacokinetic, substrate clearance, and safety studies. American Journal of Human Genetics, 68, 711-722.
23. Eng, C. M., Guffon, N., Wilcox, W. R., Germain, D. P., Lee, P., Waldek, S., et al. (2001b). Safety and efficacy of recombinant human ®-galactosidase A replacement therapy in Fairy's disease. The New England Journal of Medicine, 345, 9-16.
24. 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.
25. Gahl, W. A. (2001). New therapies for Fabry's disease. The New England Journal of Medicine, 345, 55-57.
26. Germain, D. P. (2010). Fabry disease. Orphanet Journal of Rare Diseases, 5, 30. Review.
27. Gibas, A. L., Klatt, R., Johnson, J., Clarket, J. T. R., & Katz, J. (2008). Disease rarity, carrier status, and genera: a triple disadvantage for women with Fabry disease. Journal of Genetic Counseling, 17, 528-537.
28. Grewal, R. P. (1993). Psychiatric disorders in patients with Fabry's disease. International Journal of Psychiatry in Medicine, 23, 307-312.
29. Hershberger, R. E., Lindenfeld, J., Mestroni, L., Seidman, C. E., Taylor, M. R. G., & Towbin, J. A. (2009). Journal of Cardiac Failure, 15(2), 83-97.
30. Holmes, L. B., Harvey, E. A., Coull, B. A., Huntington, K. B., Khoshbin, S., Hayes, A. M., et al. (2001). The teratogenicity of anticonvulsant drugs. The New England Journal of Medicine, 344, 1132-1138.
31. Hopkin, R. J., Bissler, J., Banikazemi, M., Clarke, L., Eng, C. M., Germain, D. P., et al. (2008). Characterization of Fabry disease in 352 pediatric patients in the Fabry Registry. Pediatric Research, 64, 550-555.
32. Laney, D. A., & Fernhoff, P. M. (2008). Diagnosis of Fabry disease via analysis of family history. Journal of Genetic Counseling, 17(1), 79-83.
33. Laney, D.A., Gruskin, D.J., Fernhoff, P.M., Cubells, J.F., Ousley, O.Y., Hipp, H., et al. (2010). Social-adaptive and psychological functioning of patients affected by fabry disease. Journal of Inherited Metabolic Disease. Online.
34. Lee, K., Jin, X., Zhang, K., Copertino, L., Andrews, L., Baker-Malcolm, J., et al. (2003). A biochemical and pharmacological comparison of enzyme replacement therapies for the glycolipid storage disorder Fabry disease. Glycobiology, 13, 305-313.
35. Lidov, O., West, M., Pintos-Morell, G., et al. (2010). Effects of enzyme replacement therapy in Fabry disease-A comprehensive review of the medical literature. Genetics in Medicine, 12(11).
36. Lin, H. Y., Chong, K. W., Hsu, J. H., et al. (2009). High incidence of the cardiac variant of Fabry disease revealed by newborn screening in the Taiwan Chinese population. Circulation. Cardiovascular Genetics, 2, 450-456.
37. MacDermot, K. D., Holmes, A., & Miners, A. H. (2001a). Anderson Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males. Journal of Medical Genetics, 38, 750-760.
38. MacDermot, K. D., Holmes, A., & Miners, A. H. (2001b). Anderson Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females. Journal of Medical Genetics, 38, 769-775.
39. McConkie-Rosell, A., & DeVellis, B. M. (2000). Threat to parental role: a possible mechanism of altered self-concept related to carrier knowledge. Journal of Genetic Counseling, 9, 285-302.
40. Mehta, A., Ricci, R., Widmer, U., et al. (2004). Fabry disease defined, baseline clinical manifestations of 366 patients in the Fabry outcome survey. European Journal of Clinical Investigation, 34(3), 235-242.
41. Mehta, A., Beck, M., & Sunder-Plassmann, G. (Eds.). (2006). Fabry disease: Perspectives from 5 years of FOS. Oxford: Oxford PharmaGenesis.
42. Meikle, P. J., Hopwood, J. J., Clague, A. E., & Carey, W. F. (1999). Prevalence of lysosomal storage disorders. Journal of the American Medical Association, 281, 249-254.
43. Michie, S. (1996). Predictive genetic testing in children: Paternalism or empiricisms? In T. Marteau & M. Richards (Eds.), The troubled helix: Social and psychological implications of the new human genetics (pp. 177-183). New York: Cambridge University Press.
44. Motabar, O., Sidransky, E., Goldin, E., & Zheng, W. (2010). Fabry disease- current treatment and new drug development. Current Chemical Genomics, 4, 50-56.
45. National Society of Genetic Counselors. (1995). National Society of Genetic Counselors, Position statement on prenatal and childhood testing for adult-onset disorders. Perspectives Genetic Counseling, 17, 5.
46. Ortiz, A., Oliveira, J. P., Waldek, S., Warnock, D. G., Cianciaruso, B., Wanner, C., et al. (2008a). Nephropathy in males and females with Fabry disease: cross-sectional description of patients before treatment with enzyme replacement therapy. Nephrology, Dialysis, Transplantation, 23, 1600-1607.
47. Ortiz, A., Oliveira, J. P., Wanner, C., Brenner, B. M., Waldek, S., & Warnock, D. G. (2008b). Recommendations and guidelines for the diagnosis and treatment of Fabry nephropathy in adults. Nature Clinical Practice Nephrology, 4(6), 327-336.
48. Ramaswami, U., Whybra, C., Parini, R., et al. (2006). Clinical manifestations of Fabry disease in children: data from the Fabry Outcome Survey. Acta Paediatrica, 95, 86-92.
49. Resta, R. G. (Ed.). (2000). Psyche and helix, Psychological aspects of genetic counseling. Essays by Seymour Kessler, PhD. New York: Wiley-Liss.
50. Ries, M., Gupta, S., Moore, D. F., Sachdev, V., Quirk, J. M., Murray, G. J., et al. (2005). Pediatric Fabry disease. Pediatrics, 115(3), e344-e355. Resta RG (ed) (2000).
51. Schiffmann, R., Murray, G. J., Treco, D., Daniel, P., Sellos-Moura, M., Myers, M., et al. (2000). Infusion of α-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease. PNAS, 97, 365-370.
52. Schiffmann, R., Kopp, J. B., Austin, H. A., Sabnis, S., Moore, D. F., Weibel, T., et al. (2001). Enzyme replacement therapy in Fabry disease. A randomized controlled trial. Journal of the American Medical Association, 285, 2743-2749.
53. Scott, C. R., Elliot, S., Glass, M., Buroker, N., Thomas, L., Keutzer, J., et al. (2011). Gelb MH (2011) Application of a triplex assay by MS/MS for the detection of Fabry, Pompe, and MPS-I within a newborn screening laboratory. 7th WORLD symposium
54. Sims, K., Politei, J., Banikazemi, M., & Lee, P. (2009). Stroke in Fabry disease frequently occurs before diagnosis and in the absence of other clinical events: Natural history data from the Fabry registry. Stroke, 40, 788-794.
55. Sorensen, S. A., & Hasholt, L. (1983). Attitudes of persons at risk for Fabry's disease towards predictive tests and genetic counseling. Journal of Biosocial Science, 15, 89-94.
56. 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.
57. Stryker, V. L., & Kreps, C. (2001). Fabry disease. The American Journal of Nursing, 101, 39-44.
58. Tondel, C., Bostad, L., Larsen, K., et al. (2013). Agalsidase benefits renal hisotology in young patients with Fabry disease. Journal of the American Society of Nephrology, 24, 137-148.
59. Uhlmann, W. R., Schuette, J. L., & Yashar, B. (2009). A guide to genetic counseling (2nd ed.). Hoboken: Wiley Blackwell.
60. Vedder, A. C., Linthorst, G. E., Houge, G., Groener, J. E., Ormel, E. E., Bouma, B. J., et al. (2007). Treatment of Fabry disease: outcome of a comparative trial with agalsidase alfa or beta at a dose of 0.2mg/kg. PLoS One, 2(7), e598.
61. Waldek, S., Patel, M. R., Banikazemi, M., Lemay, R., & Lee, P. (2009). Life expectancy and cause of death in males and females with Fabry disease: findings from the Fabry registry. Genetics in Medicine, 11(11), 790-796.
62. 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.
63. Wang, R. Y., Bodamer, O. A., Watson, M. S., Wilcox, W. R., & on behalf of the ACMG Work Group on Diagnostic Confirmation of Lysosomal Storage Diseases. (2011). Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals. Genetics in Medicine, 13(5), 457-484.
64. Watt, T., Burlina, A. P., Cazzorla, C., Schönfeld, D., Banikazemi, M., Hopkin, R. J., et al. (2010). Agalsidase beta treatment is associated with improved quality of life in patients with Fabry disease: findings from the Fabry Registry. Genetics in Medicine, 12(11), 703-712.
65. Weil, J. (2000). Psychosocial genetic counseling. Oxford: Oxford University Press.
66. Wertz, D., Fanos, J. H., & Reilly, P. R. (1994). Genetic testing for children and adolescents: who decides? Journal of the American Medical Association, 272, 875-881.
67. Wilcox, W. R., Oliveira, J. P., Hopkin, R. J., Ortiz, A., Banikazemi, M., Feldt-Rasmussen, U., et al. (2008). Females with Fabry disease frequently have major organ involvement: lessons from the Fabry registry. Molecular Genetics and Metabolism, 93(2), 112-128.
68. Williams, J. K., Schutte, D. L., Evers, C., & Holkup, P. A. (2000). Redefinition: coping with normal results from predictive gene testing for neurodegenerative disorders. Research in Nursing & Health, 23, 260-269.
69. Wise, D., Wallace, H. F., & Jellinek, E. H. (1962). Angiokeratoma corporis diffusum. Oxford Journals Medicine New Series, XXXI(122), 177-212.
70. Yasuda, M., Shabbeer, J., Benson, S. D., Maire, I., Burnett, R. M., & Desnick, R. J. (2003). Fabry disease: characterization of alpha-galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele. Human Mutation, 22, 486-492.
71. Zarate, Y. A., & Hopkin, R. J. (2008). Fabry's disease. Lancet, 372(9647), 1427-1435.