A case of hereditary amyloidosis transthyretin variant Met 30 with amyloidcardiomyopathy, less polyneuropathy, and the presence of giant cells
Citation
Y. Nakamura et al., A case of hereditary amyloidosis transthyretin variant Met 30 with amyloidcardiomyopathy, less polyneuropathy, and the presence of giant cells, PATHOL INT, 49(10), 1999, pp. 898-902
Categorie Soggetti
Medical Research Diagnosis & Treatment
Journal title
PATHOLOGY INTERNATIONAL
SICI code
1320-5463(199910)49:10<898:ACOHAT>2.0.ZU;2-8
Abstract
Transthyretin-Met 30 (TTR-Met 30) is a variant of transthyretin and is usua
lly associated with familial amyloid polyneuropathy. It is rare that patien
ts with TTR-Met 30 will primarily develop amyloid cardiomyopathy. This repo
rt presents a patient with late-onset TTR-Met 30 who primarily developed am
yloid cardiomyopathy, with less amyloid polyneuropathy in the peripheral ne
rvous system than is usually seen. An autopsy was performed, and histologic
al examination revealed many foreign-body giant cells and macrophages in th
e area of amyloid deposition that was found in nearly all of the organs.