Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study.

ABSTRACT: Fabry disease leads to renal, cardiac, and cerebrovascular manifestations. Phenotypic differences between classically and nonclassically affected patients are evident, but there are few data on the natural course of classical and nonclassical disease in men and women. To describe the natural course of Fabry disease stratified by sex and phenotype, we retrospectively assessed event-free survival from birth to the first clinical visit (before enzyme replacement therapy) in 499 adult patients (mean age 43 years old; 41% men; 57% with the classical phenotype) from three international centers of excellence. We classified patients by phenotype on the basis of characteristic symptoms and enzyme activity. Men and women with classical Fabry disease had higher event rate than did those with nonclass

SUBMITTER: Arends M 

PROVIDER: S-EPMC5407735 | biostudies-literature | 2017 May

REPOSITORIES: biostudies-literature