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Cytodiagnosis and protein typing of amyloid from a vitreous washing: initial diagnostic workup of hereditary amyloidosis.

Authors
  • Coppock, Joseph D1
  • Dusenbery, Anna C2
  • Elghawy, Omar3
  • Fellenstein, Lynn A2
  • Frierson, Henry F Jr2
  • Shildkrot, Yevgeniy4
  • 1 Department of Pathology, University of Virginia, Charlottesville, Virginia. Electronic address: [email protected]
  • 2 Department of Pathology, University of Virginia, Charlottesville, Virginia.
  • 3 School of Medicine, University of Virginia, Charlottesville, Virginia.
  • 4 Department of Ophthalmology, University of Virginia, Charlottesville, Virginia.
Type
Published Article
Journal
Journal of the American Society of Cytopathology
Publication Date
Jan 01, 2020
Volume
9
Issue
3
Pages
173–176
Identifiers
DOI: 10.1016/j.jasc.2020.01.003
PMID: 32113804
Source
Medline
Keywords
Language
English
License
Unknown

Abstract

Hereditary amyloidosis is a challenging but critical diagnosis, with serious implications with regard to treatment and disease surveillance for both patients and their families. Systemic symptomology is often vague. As vitreous amyloid deposition is strongly linked to the systemic, hereditary disease, its cytodiagnosis in the vitreous may be the incipient finding of hereditary amyloidosis. We describe a 64-year-old man with a history of heart disease and peripheral neuropathy who presented with asymmetric visual disturbances and vitreous opacities, leading to diagnostic vitrectomy. Amyloid was identified on a ThinPrep slide of the vitreous sample via Congo red stain. Creation of a cell block from the residual ThinPrep sample allowed for amyloid protein typing, identifying ATTR (transthyretin)-type amyloid and strongly suggesting hereditary amyloidosis. Subsequent sequencing of the patient's TTR gene identified a pathogenic variant that is associated with autosomal dominant hereditary transthyretin-mediated amyloidosis. Copyright © 2020 American Society of Cytopathology. Published by Elsevier Inc. All rights reserved.

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