A case of hereditary amyloidosis transthyretin variant Met 30 with amyloid cardiomyopathy, less polyneuropathy, and the presence of giant cells.

Abstract

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.

• Authors: Y Nakamura, C Yutani, M Nakazato, Y Date, T Baba, Y Goto
• Journal: Pathology international (Pathol Int) Vol. 49 Issue 10 Pg. 898-902 (Oct 1999) ISSN: 1320-5463 [Print] Australia
• PMID: 10571824 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Prealbumin
• Methionine

Topics

• Aged
• Amyloid Neuropathies (genetics, pathology)
• Amyloidosis (complications, genetics)
• Base Sequence
• Cardiomyopathies (etiology, genetics, pathology)
• Female
• Giant Cells (cytology)
• Heart Ventricles (pathology, ultrastructure)
• Humans
• Methionine (genetics)
• Point Mutation
• Prealbumin (genetics)
• Rectum (pathology)