nach oben

Erschienen in:

01.10.2013 | PROFESSIONAL ISSUES

Fabry Disease Practice Guidelines: Recommendations of the National Society of Genetic Counselors

verfasst von: Dawn A. Laney, Robin L. Bennett, Virginia Clarke, Angela Fox, Robert J. Hopkin, Jack Johnson, Erin O’Rourke, Katherine Sims, Gerald Walter

Erschienen in: Journal of Genetic Counseling | Ausgabe 5/2013

Einloggen, um Zugang zu erhalten

Abstract

Identification and comprehensive care of individuals who have Fabry disease (FD) requires a multidisciplinary approach inclusive of genetic testing, test interpretation, genetic counseling, long term disease symptom monitoring, treatment recommendations, and coordination of therapy. The purpose of this document is to provide health care professionals with guidelines for testing, care coordination, identification of psychosocial issues, and to facilitate a better understanding of disease treatment expert recommendations for patients with Fabry disease. These recommendations are the opinions of a multicenter working group of genetic counselors, medical geneticists, and other health professionals with expertise in Fabry disease counseling, as well as representatives/founders of the two United States based Fabry disease patient advocacy groups who are themselves affected by Fabry disease. The recommendations are U.S. Preventive Task Force Class III, and they are based on clinical experience, a review of pertinent English-language articles, and reports of expert committees. This document reviews the genetics of Fabry disease, the indications for genetic testing, interpretation of results, psychosocial considerations, and references to professional and patient resources.

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.PubMedCrossRef

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.PubMedCrossRef

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.PubMed

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.PubMedCrossRef

Bennett, R. L. (2010a). The practical guide to the genetic family history (2nd ed.). Hoboken: Blackwell.CrossRef

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.

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.PubMed

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.PubMedCrossRef

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.CrossRef

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.PubMedCrossRef

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.

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.PubMedCrossRef

Clarke, A. (Ed.). (1998). The genetic testing of children. Oxford: BIOS Scientific.

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.CrossRef

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.PubMed

Davis, D. S. (1997). Genetic dilemmas and the child’s right to an open future. The Hastings Center Report, 27, 7–15.PubMedCrossRef

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.PubMedCrossRef

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.

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.PubMedCrossRef

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.

Elstein, D., Altars, G., & Beck, M. (ends) (2010). Fabry disease, Springer.

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.PubMedCrossRef

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.CrossRef

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.PubMedCrossRef

Gahl, W. A. (2001). New therapies for Fabry’s disease. The New England Journal of Medicine, 345, 55–57.PubMedCrossRef

Germain, D. P. (2010). Fabry disease. Orphanet Journal of Rare Diseases, 5, 30. Review.PubMedCrossRef

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.PubMedCrossRef

Grewal, R. P. (1993). Psychiatric disorders in patients with Fabry’s disease. International Journal of Psychiatry in Medicine, 23, 307–312.PubMedCrossRef

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.PubMedCrossRef

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.PubMedCrossRef

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.PubMedCrossRef

Laney, D. A., & Fernhoff, P. M. (2008). Diagnosis of Fabry disease via analysis of family history. Journal of Genetic Counseling, 17(1), 79–83.PubMedCrossRef

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.

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.PubMedCrossRef

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).

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.PubMedCrossRef

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.PubMedCrossRef

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.PubMedCrossRef

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.CrossRef

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.CrossRef

Mehta, A., Beck, M., & Sunder-Plassmann, G. (Eds.). (2006). Fabry disease: Perspectives from 5 years of FOS. Oxford: Oxford PharmaGenesis.

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.PubMedCrossRef

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.CrossRef

Motabar, O., Sidransky, E., Goldin, E., & Zheng, W. (2010). Fabry disease- current treatment and new drug development. Current Chemical Genomics, 4, 50–56.PubMedCrossRef

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.

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.PubMedCrossRef

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.PubMedCrossRef

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.PubMedCrossRef

Resta, R. G. (Ed.). (2000). Psyche and helix, Psychological aspects of genetic counseling. Essays by Seymour Kessler, PhD. New York: Wiley-Liss.

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).PubMedCrossRef

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.

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.PubMedCrossRef

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

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.PubMedCrossRef

Sørensen, 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.PubMedCrossRef

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.PubMedCrossRef

Stryker, V. L., & Kreps, C. (2001). Fabry disease. The American Journal of Nursing, 101, 39–44.PubMedCrossRef

Tøndel, 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.PubMedCrossRef

Uhlmann, W. R., Schuette, J. L., & Yashar, B. (2009). A guide to genetic counseling (2nd ed.). Hoboken: Wiley Blackwell.

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.PubMedCrossRef

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.PubMedCrossRef

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.PubMedCrossRef

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.PubMedCrossRef

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.PubMedCrossRef

Weil, J. (2000). Psychosocial genetic counseling. Oxford: Oxford University Press.

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.PubMedCrossRef

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.PubMedCrossRef

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.CrossRef

Wise, D., Wallace, H. F., & Jellinek, E. H. (1962). Angiokeratoma corporis diffusum. Oxford Journals Medicine New Series, XXXI(122), 177–212.

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.PubMedCrossRef

Zarate, Y. A., & Hopkin, R. J. (2008). Fabry’s disease. Lancet, 372(9647), 1427–1435.PubMedCrossRef

Titel: Fabry Disease Practice Guidelines: Recommendations of the National Society of Genetic Counselors
verfasst von: Dawn A. Laney
Robin L. Bennett
Virginia Clarke
Angela Fox
Robert J. Hopkin
Jack Johnson
Erin O’Rourke
Katherine Sims
Gerald Walter
Publikationsdatum: 01.10.2013
Verlag: Springer US
Erschienen in: Journal of Genetic Counseling / Ausgabe 5/2013
Print ISSN: 1059-7700
Elektronische ISSN: 1573-3599
DOI: https://doi.org/10.1007/s10897-013-9613-3

Neu im Fachgebiet Gynäkologie und Geburtshilfe

23.04.2024 | Medikamente in Schwangerschaft und Stillzeit | Nachrichten

Update Gynäkologie

Bestellen Sie unseren Fach-Newsletter und bleiben Sie gut informiert – ganz bequem per eMail.

Newsletter bestellen

Springer Medizin

Fabry Disease Practice Guidelines: Recommendations of the National Society of Genetic Counselors

Abstract

Neu im Fachgebiet Gynäkologie und Geburtshilfe

ICI-Therapie in der Schwangerschaft wird gut toleriert

Weniger postpartale Depressionen nach Esketamin-Einmalgabe

Bei RSV-Impfung vor 60. Lebensjahr über Off-Label-Gebrauch aufklären!

Harnwegsinfektprophylaxe: Es geht auch ohne Antibiotika

Update Gynäkologie

Springer Medizin

Abstract

Bitte loggen Sie sich ein, um Zugang zu diesem Inhalt zu erhalten

Weitere Artikel der Ausgabe 5/2013

Effect of Direct-to-Consumer Genetic Tests on Health Behaviour and Anxiety: A Survey of Consumers and Potential Consumers

Does a Duty of Disclosure Foster Special Treatment of Genetic Research Participants?

“There’s a Whole Different Way of Working with Adolescents”: Interviews with Australian Genetic Counselors About their Experiences with Adolescent Clients

Exploring Culture-Specific Differences in Beliefs about Causes, Kinship and the Heritability of Major Depressive Disorder: The Views of Anglo-Celtic and Chinese-Australians

“Nothing is Absolute in Life”: Understanding Uncertainty in the Context of Psychiatric Genetic Counseling from the Perspective of those with Serious Mental Illness

Genetic Risk Assessment for Women with Epithelial Ovarian Cancer: Referral Patterns and Outcomes in a University Gynecologic Oncology Clinic

Neu im Fachgebiet Gynäkologie und Geburtshilfe

ICI-Therapie in der Schwangerschaft wird gut toleriert

Weniger postpartale Depressionen nach Esketamin-Einmalgabe

Bei RSV-Impfung vor 60. Lebensjahr über Off-Label-Gebrauch aufklären!

Harnwegsinfektprophylaxe: Es geht auch ohne Antibiotika

Update Gynäkologie