Histologic and electron microscopy findings in myocardium of treated Fabry disease.
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.
Owens
Christopher L
CL
Department of Pathology, Johns Hopkins Medical Institutions, Baltimore, MD 21205, USA.
Russell
Stuart D
SD
Halushka
Marc K
MK
D001706:Biopsy; D000795:Fabry Disease / Q000473:pathology* / Q000628:therapy; D005500:Follow-Up Studies; D006333:Heart Failure / Q000150:complications / Q000601:surgery; D006801:Humans; D007527:Isoenzymes / Q000627:therapeutic use; D008297:Male; D008875:Middle Aged; D009206:Myocardium / Q000473:pathology* / Q000648:ultrastructure*; D032383:Myocytes, Cardiac / Q000473:pathology* / Q000648:ultrastructure*; D013997:Time Factors; D016896:Treatment Outcome; D000519:alpha-Galactosidase / Q000627:therapeutic use
D007527:Isoenzymes; D000519:alpha-Galactosidase; C459420:agalsidase beta