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Fabry Disease pp 325-337 | Cite as

Genetic Counseling and Psychosocial Issues for Individuals and Their Families with Fabry Disease

  • Robin L. BennettEmail author
Chapter

Abstract

Fabry disease is an X-linked disorder with severe and chronic disease manifestations beginning in childhood. Genetic counseling is important as part of the multidisciplinary care of individuals and their families with Fabry disease. This chapter reviews the key aspects of genetic counseling for persons and their families with Fabry disease and many of the psychological issues. Genetic counseling may occur over multiple visits during various times (such as when establishing a diagnosis, when identifying relatives at risk for Fabry disease, and when making reproductive decisions).

Keywords

Genetic counseling Family history Fabry disease Psychosocial issues 

References

  1. 1.
    Bennett RL (2006) Genetic counseling. In: Runge MS, Patterson C (eds) Principles of molecular medicine, 2nd edn. Human Press, Totowa, pp 46–52CrossRefGoogle Scholar
  2. 2.
    Resta RG, Beisecker BB, Bennett RL et al (2006) A new definition of genetic counseling. National Society of Genetic Counselor’s Task Force Report. J Genet Couns 15(2):77–83PubMedCrossRefGoogle Scholar
  3. 3.
    Bennett RL (2010) The practical guide to the genetic family history, 2nd edn. Wiley-Blackwell, HobokenCrossRefGoogle Scholar
  4. 4.
    Peters FP, Sommer A, Vermeulean A, Cheriex EC, Kho TL (1997) Fabry’s disease: a multidisciplinary disorder. Postgrad Med J 73:710–712PubMedCrossRefGoogle Scholar
  5. 5.
    Gibas AL, Klatt R, Johnson J, Clarke JTR, Katz J (2008) Disease rarity, carrier status, and gender: a triple disadvantage for women with Fabry disease. J Genet Couns 17:528–537PubMedCrossRefGoogle Scholar
  6. 6.
    Bennett RL, Hart KA, O’Rourke EO et al (2002) Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors. J Genet Couns 11(2):121–146PubMedCrossRefGoogle Scholar
  7. 7.
    Rodriquez-Mari A, Coll MJ, Chabas A (2003) A molecular analysis in Fabry disease in Spain: fifteen novel GLA mutations and identification of a homozygous female. Hum Mutat 22(3):258CrossRefGoogle Scholar
  8. 8.
    Bennett RL, Steinhaus KA, Uhrich SB et al (1995) Recommendations for standardized pedigree nomenclature. Am J Hum Genet 56:745–752PubMedGoogle Scholar
  9. 9.
    Bennett RL, Steinhaus KA, Resta RG, Doyle DL (2008) Standardized human pedigree nomenclature: update and assessment of the recommendations of the National Society of Genetic Counselors. J Genet Couns 7(5):424–433CrossRefGoogle Scholar
  10. 10.
    Resta RG (ed) (2000) Psyche and Helix. Psychological aspects of genetic counseling. Essays by Seymour Kessler, PhD. Wiley-Liss, New YorkGoogle Scholar
  11. 11.
    Weil J (2000) Psychosocial genetic counseling. Oxford University Press, OxfordGoogle Scholar
  12. 12.
    Uhlmann WR, Schuette JL, Yashar B (2009) A guide to genetic counseling, 2nd edn. Wiley-Blackwell, HobokenGoogle Scholar
  13. 13.
    MacDermot KD, Holmes A, Miners AH (2001) Anderson Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males. J Med Genet 38:750–760PubMedCrossRefGoogle Scholar
  14. 14.
    Stryker VL, Kreps C (2001) Fabry disease. Amer J Neurol 101:39–44Google Scholar
  15. 15.
    Williams JK, Schutte DL, Evers C, Holkup PA (2000) Redefinition. Coping with normal results from predictive gene testing for neurodegenerative disorders. Res Nurs Health 23:260–269PubMedCrossRefGoogle Scholar
  16. 16.
    Morgan SH, d’A Crawford M (1988) Anderson-Fabry disease: a commonly missed diagnosis. Br Med J 297:872–873CrossRefGoogle Scholar
  17. 17.
    Mehta A, Ricci R, Widmer U et al (2004) Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry outcome survey. Eur J Clin Invest 34(3):236–242PubMedCrossRefGoogle Scholar
  18. 18.
    Caughey AB. Seizure disorders in pregnancy. eMedicine http://emedicine.medscape.com/article/272050-overview, update 4/20/2009. Accessed 26 Oct 2009
  19. 19.
    Balwani M, Fuerstman L, Desnick RJ, Buckley B, McGovern MM (2009) Use of complementary and alternative medicine by patients with lysosomal storage diseases. Genet Med 11(10):722–727PubMedCrossRefGoogle Scholar
  20. 20.
    Marymee K, Dolan CR, Pagon RA, Bennett RL, Coe S, Fisher N (1998) Development of the critical elements of genetic evaluation and genetic counseling for genetic professionals and perinatologists in Washington State. J Genet Couns 6:133–165CrossRefGoogle Scholar
  21. 21.
    National Society of Genetic Counselors (2007) Scope of practice, June 2007. Available at http://www.nsgc.org/client_files/SOP_final_060.pdf. Accessed 2009 Oct 30

Copyright information

© Springer Netherlands 2010

Authors and Affiliations

  1. 1.Division of Medical Genetics, Department of MedicineUWMC Medical Genetics Clinic, University of Washington Medical CenterSeattleUSA

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