Screening for Fabry disease among male patients on hemodialysis in Awaji Island.

Fabry disease (FD) manifests decreased α-galactosidase A (α-Gal A) activity and multiorgan damage. There are some undiagnosed cases of the condition among patients on dialysis. The prevalence of FD may also vary with the region. Among 227 male patients undergoing maintenance hemodialysis in Awaji Island, a remote island in Japan, 201 (88.5%) were included in this study. Patients with α-Gal A activity <5.0 pmol/h/disk proceeded to secondary screening. Patients with positive secondary screening underwent further genetic analysis. The number of patients with a family history of cardiac, cerebrovascular, and kidney diseases was 31 (15.4%), 23 (11.4%), and 31 (15.4%) patients, respectively. Although three patients (1.5%) had low α-Gal A activity, none of them was positive in the secondary screening. We could not identify any male hemodialysis patient with FD in Awaji Island, even though some patients had a family history of kidney and cardiovascular diseases.