Background: Anderson-Fabry Disease (AFD) is an X-linked lysosomal storage disorder caused by deficiency of alpha-galactosidase A. Central nervous system (CNS) manifestations consist mainly of cerebrovascular events. Brain magnetic resonance imaging (MRI) results often abnormal. PURPOSE: The aim of the present study was to describe CNS involvement in a group of Italian AFD patients.
Methods: Clinical and brain MRI data of 43 patients with AFD (25 males, 41.94 ± 10.83 yrs old and 18 females, 52.48 ± 17.50 yrs old) were analyzed retrospectively. 17 male patients and 7 female patients were under treatment with enzyme replacement therapy (ERT).
Results: All 43 patients had signs or symptoms of AFD. 16 males (64%) and 13 females (72%) demonstrated CNS involvement although with varying severity. Overall, 6 males and 5 females had suffered from cerebrovascular accidents with an age at onset of 33.64 ± 13.65 yrs and 53.68 ± 11.71 yrs, respectively. Brain MR images were abnormal in 16/25 males and in 13/16 females. During CNS monitoring some patients receiving ERT (5/17 males and 2/6 females) demonstrated neurological deterioration, especially those who had presented with cerebrovascular disease already before starting ERT.
Conclusions: The present study demonstrated a high frequency of CNS involvement in homozygous and heterozygous AFD patients, often characterized by early age at onset and abnormal brain MRIs. At present ERT is widely-used, however, potential beneficent effects may be disguised by the progression of irreversible pathology in short-term follow-up. Therefore primary and secondary prophylaxes of cerebrovascular disease are extremely important.