title: Fabry disease: diagnosis and treatment.
abstract: Fabry disease is an X-linked lysosomal storage disorder that results from a deficiency of the enzyme alpha-galactosidase A (alpha-Gal A). The lack of alpha-Gal A causes an intracellular accumulation of glycosphingolipids, mainly globotriaosyceramide (GL3). Affected organs include, among others, the vascular endothelium, heart, brain, and kidneys, leading to end-stage renal disease (ESRD). Since Fabry disease cannot be cured at present, clinical management is symptomatic. Enzyme replacement therapy (ERT) with recombinant alpha-Gal A has been introduced as a new therapeutic option for the treatment of Fabry patients. Short-term (one year) clinical studies have positively correlated ERT with improvement of clinical symptoms and microvascular endothelial cell clearance. Treatment outcome concerning severe organ manifestations such as proteinuria and renal function impairment, left ventricular hypertrophy, and heart failure in the long run has yet to be shown. In our studies we used sensitive and noninvasive techniques such as ultrasound-based strain rate imaging and magnetic resonance imaging (MRI), combined with MR-spectroscopy (MR-S), for the quantification of functional abnormalities at an early stage of the disease and during long-term follow-up. Future issues should determine the appropriate timing to start therapy and how children and heterozygous females should be managed. Given the diagnostic and therapeutic potential today, it is of importance to identify patients at an early stage and to start therapeutic intervention before progression of organ damage is inevitable.
authors.affiliation: Department of Medicine, Division of Nephrology, University of Würzburg, Würzburg, Germany. f.breunig@medizin.uni-wuerzburg.de
authors.forename: Frank
authors.initials: F
authors.lastname: Breunig
authors.forename: Frank
authors.initials: F
authors.lastname: Weidemann
authors.forename: Meinrad
authors.initials: M
authors.lastname: Beer
authors.forename: Andreas
authors.initials: A
authors.lastname: Eggert
authors.forename: Vera
authors.initials: V
authors.lastname: Krane
authors.forename: Matthias
authors.initials: M
authors.lastname: Spindler
authors.forename: Jörn
authors.initials: J
authors.lastname: Sandstede
authors.forename: Jörg
authors.initials: J
authors.lastname: Strotmann
authors.forename: Christoph
authors.initials: C
authors.lastname: Wanner
mesh_terms: D000795:Fabry Disease / Q000175:diagnosis* / Q000628:therapy*; D006801:Humans