Title
Histologic and electron microscopy findings in myocardium of treated Fabry disease
UMMS Affiliation
Department of Pathology
Date
5-31-2006
Document Type
Article
Medical Subject Headings
Biopsy; Fabry Disease; Follow-Up Studies; Heart Failure; Humans; Isoenzymes; Male; Middle Aged; Myocardium; Myocytes, Cardiac; Time Factors; Treatment Outcome; alpha-Galactosidase
Disciplines
Pathology
Abstract
The well-described histologic and electron microscopic findings in Fabry disease cardiomyopathy are hypertrophic vacuolated cells with electron dense concentric lamellar bodies. We present altered findings in an endomyocardial biopsy from a patient with treated Fabry disease. A 51-year-old male with Fabry disease, treated with recombinant alpha-galactosidase enzyme replacement therapy for over 18 months, underwent an endomyocardial biopsy for heart failure. The histologic changes showed widespread hypertrophy and vacuolization with rare eosinophilic bodies. Electron microscopy failed to reveal the characteristic globotriaosylceramide concentric lamellar bodies (myelin figures) in the sarcoplasm. Instead, extensive aggregates and single tubular crystalline structures, giant secondary lysosomes as well as abnormal branched chain glycogen were present. This is the first histologic description of long-standing treated Fabry disease in cardiac myocytes.
Rights and Permissions
Citation: Hum Pathol. 2006 Jun;37(6):764-8. Link to article on publisher's site