Major Organic Involvement in Women with Fabry Disease in Argentina

Fabry disease (FD) is an X-linked lysosomal storage disorder resulting from the deffciency or absence of the alpha galactosidase A enzyme. Organic involvement in men is well known, but in women it is controversial, partly due to the random X-chromosomes inactivation (Lyon hypothesis).The aim of this study was to describe the organic involvement in women at the time of FD diagnosis. A descriptive, cross-sectional and multicenter study was carried out. Tirty-fve women with FD from three reference centers in Argentina were evaluated. The mean age of the whole group (� = 35) was 26.6 ± 16.9 years; 22 were adult (over 18) and 13 were paediatric patients. Enzymatic activity was performed in 29/35 patients, which was normal in 24/29 (82.8%). Seven diferent mutations of the GLA gene were found. The results showed urinary protein loss (45.7%) and decreased glomerular fltration rate (31.4%), mainly in adults. an‎d also, cornea verticillata (56.5%), peripheral neuropathy (51.4%), cardiovascular manifestations (31.4%), hearing loss (20%), angiokeratomas (20%), central nervous system (17.1%), and gastrointestinal involvement (14.3%). Organic compromise in females with FD may be as severe as in men. This analysis has demonstrated a signifcant proportion of women with signs, symptoms, and major organic involvement at FD diagnosis.