Cytodiagnosis and Protein Typing of Amyloid from a Vitreous Washing: Initial Diagnostic Workup 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.
Source: Journal of the American Society of Cytopathology - Category: Cytology Source Type: research