Gibas, Andrea L.Klatt, ReganJohnson, JackClarke, JoeKatz, Joel2011-05-192011-05-192008Journal of Genetic Counseling, 17(6), 528–537. (2008)http://hdl.handle.net/10315/7977Fabry disease is a multi-systemic X-linked genetic disorder which has progressive and deadly consequences for those it afflicts. Fabry disease symptoms are widely recognized as a substantive burden for affected males. In comparison, female heterozygotes have traditionally been viewed as relatively symptom-free, though a debate continues about whether and how much they suffer with the disease. Previous research suggests that females with Fabry disease may be triply disadvantaged in healthcare settings owing to: (1) disease rarity, (2) devalued carrier status, and (3) gender. The combined effects of these three factors suggest that female heterozygotes may suffer substantially with Fabry disease symptoms. A qualitative analysis of a brief disease-specific questionnaire provides supportive evidence. The female Fabry disease participants described experiencing significant symptoms that interfered with their lives. They also described unsatisfying experiences with healthcare professionals related to disease rarity, carrier status, and gender. The results of this study corroborate the suggestion that this triple disadvantage exists and may preclude appropriate management and treatment of females with Fabry disease. The role of healthcare professionals, including genetic counselors, in remedying this disadvantage is reviewed.enfemale heterozygoteshealthcarequalitative analysissex-linked diseaselyosomal storage disorderfabry diseaseArticlehttp://www.springerlink.com/content/1059-7700/http://www.springer.comhttp://www.springerlink.com/content/3wk2g110v6631581/fulltext.pdf