Heterozygous Fabry women are not just carriers, but have a significant burden of disease and impaired quality of life

Abstract

Purpose: To determine if there is significant symptomatology in women with heterozygous ␣-galactosidase mutations. Methods: Data from medical records of the 44 heterozygous females followed at Cedars-Sinai Medical Center were compiled and analyzed for symptoms of Fabry disease. Quality of life data were also analyzed. Results:Seventy-six percent were referred due to an affected male relative; 76% reported acroparesthesias as their first symptom. A mean of 15.7 years elapsed from onset of first symptoms to the diagnosis. Quality of life, measured by the SF-36 survey, was globally reduced. Pain affected mood and enjoyment of life. Central/peripheral nervous, cardiopulmonary, and renal system manifestations of Fabry disease were present far above that predicted for random X-inactivation of the normal allele. Fatigue, present in 59%, was associated with reduced maximum oxygen consumption (P ϭ 0.049); exercise intolerance, present in 83%, was associated with reduced maximal heart rate during exercise testing (P ϭ 0.0089). Women diagnosed via family history experienced more angina (P ϭ 0.035), decreased vibration sense (P ϭ 0.026), and had a worse percentage predicted FEF 25-75 (P ϭ 0.037) compared to women diagnosed because of symptoms. Conclusions: This study indicates that the asymptomatic female carrier of Fabry disease is the exception, not the rule: heterozygotes suffer from significant multisystemic disease and reduced quality of life and must be monitored and treated accordingly. Genet Med 2007:9(1):34-45.

Psychological Health in Adults with Morquio Syndrome

“…The results of the present (Crosbie et al 2009;Gold et al 2002;Masek et al 1999;Packman et al 2006;Watt et al 2010;Weinreb et al 2007;Wilcox et al 2008). Prevalence estimates of depression in FD range from 15 to 62% (Bolsover et al 2014;Grewal 1993;Wang et al 2007), with the largest study (n ¼ 296) reporting 46% (Cole et al 2007). The present study found people with Morquio syndrome to likewise report decreased QOL, though only in physical health QOL, while prevalence estimates of depressive symptoms were 15%.…”

Cognitive Function in Adults Aging with Fabry Disease: A Case–Control Feasibility Study Using Telephone-Based Assessments

“…In addition, men with FD were underrepresented in our study, with women comprising 70% of our sample. Disease severity in women with FD can range from asymptomatic carriers to classic symptomatic cases with involvement of multiple organ systems (Wang et al 2007). Our study design allowed us to test whether cognitive score differences attributable to sex were different in our FD sample than in the control sample.…”

Quality of life among polish Fabry patients — a cross-sectional study quality of life among polish Fabry patients

“…Global reduction of QoL in patients with Fabry disease has been confirmed in studies using SF-36 questionnaire [2,3,[14][15][16]. Gold et al found that patients with Fabry disease have a score profile most similar to patients with AIDS and that in comparison with patients with Gaucher disease, Fabry patients score substantially lower across all QoL domains [2].…”