Abstract
The purpose of this study was to evaluate the clinical and pathological features in
patients with progressive-type familial amyloidotic polyneuropathy (FAP) using autopsy
and biopsy specimens. A proband is a 33-year-old man with FAP type I who developed
motor, sensory and autonomic impairments with neuropathy, heart failure, and anorexia.
Genetic findings of transthyretin (TTR) revealed G to A transition in codon 54 causing
a rare mutation of TTR Lys54. He died of pneumonia and severe cardiac failure 4 years
after onset. Autopsy showed heavy amyloid deposition in the heart, peripheral nerves,
thyroid, skin, fat tissue, prostate and testis, moderate in the sympathetic nerve
trunk, vagal nerve, celiac plexus, pelvic plexus, bladder, gastrointestinal tract,
tongue, pancreas, lung, pituitary, blood vessel, gall bladder, adrenals and muscles,
and free in the central nervous system, liver, kidney and spleen. Sural nerve biopsy
in a sibling confirmed TTR amyloidosis immunohistochemically. Electronmicroscopic
findings of amyloid fibrils were similar to that of FAP Met30. Immunoelectronmicroscopic
findings indicated the relationship between amyloid fibrils or non-fibrillar structure
and collagen fibers. The distribution of amyloid deposition, heavy in the heart and
lacking in the kidney, is a characteristic feature and reflected severity of FAP with
TTR Lys54.
Keywords
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Article info
Publication history
Accepted:
September 3,
2008
Received in revised form:
August 31,
2008
Received:
November 20,
2007
Identification
Copyright
© 2008 Elsevier B.V. Published by Elsevier Inc. All rights reserved.
