Major Organic Involvement in Women with Fabry Disease in Argentina

الملخص EN

Fabry disease (FD) is an X-linked lysosomal storage disorder resulting from the deficiency 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.

Thirty-five women with FD from three reference centers in Argentina were evaluated.

The mean age of the whole group (n=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 different mutations of the GLA gene were found.

The results showed urinary protein loss (45.7%) and decreased glomerular filtration 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 significant proportion of women with signs, symptoms, and major organic involvement at FD diagnosis.