Cerebral blood flow in patients with Fabry disease as measured by Doppler sonography is not different from that in healthy individuals and is unaffected by treatment.

Objectives: The purpose of this study was to investigate cervical and cerebral blood flow characteristics in patients with Fabry disease at baseline and under enzyme replacement therapy.

Methods: In this case-control study we prospectively studied 68 patients with Fabry disease with extracranial and transcranial Doppler sonography. We compared extracranial and transcranial cervical and cerebral blood flow properties in all patients with Fabry disease and in subgroups of those with or without enzyme replacement therapy, male and female, and with normal or impaired renal function. Eight male patients were investigated at baseline and 1 year after initiation of enzyme replacement therapy.

Results: We show that cervical and cerebral blood flow parameters in patients with Fabry disease are not different from normal values regardless of sex, renal function, or enzyme replacement therapy.

Conclusions: Cervical and cerebral blood flow measured with extracranial and transcranial Doppler sonography is not altered in patients with Fabry disease. Enzyme replacement therapy does not change blood flow characteristics.