Nationwide screening for Fabry disease in unselected stroke patients.

ABSTRACT:

Background and aims

Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by disease-associated variants in the alpha-galactosidase A gene (GLA). FD is a known cause of stroke in younger patients. There are limited data on prevalence of FD and stroke risk in unselected stroke patients.

Methods

A prospective nationwide study including 35 (78%) of all 45 stroke centers and all consecutive stroke patients admitted during three months. Clinical data were collected in the RES-Q database. FD was diagnosed using dried blood spots in a stepwise manner: in males-enzymatic activity, globotriaosylsphingosine (lyso-Gb3) quantification, if positive followed by GLA gene sequencing; and in females GLA sequencing followed by lyso-Gb3.

Results

986 consecutive patient

SUBMITTER: Tomek A 

PROVIDER: S-EPMC8670679 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature