title: Pathological findings in a patient with Fabry disease who died after 2.5 years of enzyme replacement.
abstract: We describe the postmortem findings of a 47-year-old man with Fabry disease, an X-linked glycolipid storage disorder, who was on enzyme replacement therapy with recombinant alpha-galactosidase A for more than 2 years. The patient had widespread atherosclerotic coronary artery disease that culminated in a massive acute myocardial infarction. Atherosclerotic lesions were seen in the right and left coronary systems, aorta, and the basilar artery. Typical Fabry cardiomyopathy and glomerular nephropathy were found. With the exception of vascular endothelial cells, extensive glycolipid storage deposits were seen in all vascular and nonvascular cells and organ systems. We conclude that, at least in this patient, repeated infusions with alpha-galactosidase A over a prolonged period did not appreciably clear storage material in cells other than vascular endothelial cells. These findings also illustrate accelerated atherosclerosis in susceptible patients with Fabry disease.
authors.affiliation: Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA. RS4e@nih.gov
authors.forename: Raphael
authors.initials: R
authors.lastname: Schiffmann
authors.forename: Amy
authors.initials: A
authors.lastname: Rapkiewicz
authors.forename: Mones
authors.initials: M
authors.lastname: Abu-Asab
authors.forename: Markus
authors.initials: M
authors.lastname: Ries
authors.forename: Hasan
authors.initials: H
authors.lastname: Askari
authors.forename: Maria
authors.initials: M
authors.lastname: Tsokos
authors.forename: Martha
authors.initials: M
authors.lastname: Quezado
mesh_terms: D003324:Coronary Artery Disease / Q000209:etiology / Q000473:pathology*; D000795:Fabry Disease / Q000150:complications / Q000188:drug therapy* / Q000473:pathology*; D017809:Fatal Outcome; D006801:Humans; D007674:Kidney Diseases / Q000209:etiology / Q000473:pathology*; D008297:Male; D008875:Middle Aged; D009203:Myocardial Infarction / Q000209:etiology / Q000473:pathology*; D009206:Myocardium / Q000473:pathology; D032383:Myocytes, Cardiac / Q000648:ultrastructure; D011994:Recombinant Proteins; D000519:alpha-Galactosidase / Q000627:therapeutic use*
chemical_list: D011994:Recombinant Proteins; D000519:alpha-Galactosidase