Clinical features of Fabry's disease in Australian patients

Abstract

Background: Anticipating the prospect of specific treatment, we studied a large group of Australians with Fabry's disease. Aims: We aimed to: (i) document the clinical features of Fabry's disease in Australian patients, (ii) test the hypothesis that clinical features vary with specific mutation and blood group and (iii) assess small-fibre peripheral nerve function. Methods: A questionnaire was forwarded to all Australian patients known to us. Patients were invited to attend for clinical, renal cardiac, ophthalmological and neurological assessment. Results: Sixty-seven patients (29 men and 38 women) from 18 families participated. Diagnosis in index cases was delayed by ≥10 years in nearly all..