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Pathological findings in a patient with Fabry disease who died after 2.5 years of enzyme replacement

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 α-galactosidase A for more than 2 years. The patient had widespread atherosclerotic coronary artery disease that culminated in...

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Bibliographic Details
Main Authors: Schiffmann, Raphael (Author) , Rapkiewicz, Amy (Author) , Abu-Asab, Mones (Author) , Ries, Markus (Author) , Askari, Hasan (Author) , Tsokos, Maria (Author) , Quezado, Martha (Author)
Format: Article (Journal)
Language:English
Published: 2006
In: Virchows Archiv
Year: 2005, Volume: 448, Issue: 3, Pages: 337-343
ISSN:1432-2307
DOI:10.1007/s00428-005-0089-x
Online Access:Verlag, Volltext: https://doi.org/10.1007/s00428-005-0089-x
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Author Notes:Raphael Schiffmann, Amy Rapkiewicz, Mones Abu-Asab, Markus Ries, Hasan Askari, Maria Tsokos, Martha Quezado
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Summary: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 α-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 α-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.
Item Description:First online: 29 November 2005
Gesehen am 15.05.2019
Physical Description:Online Resource
ISSN:1432-2307
DOI:10.1007/s00428-005-0089-x

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