A case of hereditary amyloidosis transthyretin variant Met 30 with amyloid cardiomyopathy, less polyneuropathy, and the presence of giant cells.
Transthyretin-Met 30 (TTR-Met 30) is a variant of transthyretin and is usually associated with familial amyloid polyneuropathy. It is rare that patients with TTR-Met 30 will primarily develop amyloid cardiomyopathy. This report presents a patient with late-onset TTR-Met 30 who primarily developed amyloid cardiomyopathy, with less amyloid polyneuropathy in the peripheral nervous system than is usually seen. An autopsy was performed, and histological examination revealed many foreign-body giant cells and macrophages in the area of amyloid deposition that was found in nearly all of the organs.
Nakamura
Y
Y
Department of Pathology, National Cardiovascular Center, Osaka, Japan. ynakamura@mti.biglobe.ne.jp
Yutani
C
C
Nakazato
M
M
Date
Y
Y
Baba
T
T
Goto
Y
Y
D000368:Aged; D017772:Amyloid Neuropathies / Q000235:genetics / Q000473:pathology*; D000686:Amyloidosis / Q000150:complications* / Q000235:genetics; D001483:Base Sequence; D009202:Cardiomyopathies / Q000209:etiology* / Q000235:genetics / Q000473:pathology; D005260:Female; D015726:Giant Cells / Q000166:cytology*; D006352:Heart Ventricles / Q000473:pathology / Q000648:ultrastructure; D006801:Humans; D008715:Methionine / Q000235:genetics*; D017354:Point Mutation; D011228:Prealbumin / Q000235:genetics*; D012007:Rectum / Q000473:pathology
D011228:Prealbumin; D008715:Methionine