Screening, diagnosis and treatment of Fabry disease

Fabry disease is a rare lysosomal storage disease affecting different organs, i.e. kidneys, heart and central nervous system. Early alerting signs and symptoms include neuropathic pain, angiokeratoma and hypohidrosis/anhidrosis. High-risk screening followed by testing of family members is a wellaccepted practice for identification of patients with Fabry disease who require enzyme replacement therapy. Treatment should be initiated at earlier stage of disease prior to the development of irreversible organ damage. An article reviews diagnosis and treatment of Fabry disease using the published data and the results of follow-up of 110 adult patients who were admitted to Tareev Clinic over the last 5 years.

Key words

Fabry disease, a -galactosidase A, Lyso-GL3, screening, treatment.