Cornea verticillata and acroparesthesia efficiently discriminate clusters of severity in Fabry disease.

ABSTRACT: BACKGROUD:Fabry disease (OMIM #301 500), the most prevalent lysosomal storage disease, is caused by enzymatic defects in alpha-galactosidase A (GLA gene; Xq22.1). Fabry disease has historically been characterized by progressive renal failure, early stroke and hypertrophic cardiomyopathy, with a diminished life expectancy. A nonclassical phenotype has been described with an almost exclusive cardiac involvement. Specific therapies with enzyme substitution or chaperone molecules are now available depending on the mutation carried. Numerous clinical and fundamental studies have been conducted without stratifying patients by phenotype or severity, despite different prognoses and possible different pathophysiologies. We aimed to identify a simple and clinically relevant way to classify and strat

SUBMITTER: Mauhin W 

PROVIDER: S-EPMC7244174 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature