Vasculopathy in transthyretin Val30Met familial amyloid polyneuropathy

Haruki Koike,Shohei Ikeda,Gen Sobue,Masahiro Iijima,Yuichi Kawagashira,Mie Takahashi,Masahisa Katsuno

doi:10.1186/1750-1172-10-s1-o11

Abstract

Background Transthyretin (TTR) Val30Met-associated familial amyloid polyneuropathy (FAP ATTR Val30Met) is the most common form of FAP and has become prevalent in areas other than conventional endemic foci. The clinicopathological features of FAP ATTR Val30Met are known to vary between endemic foci and non-endemic areas in Japan. Characteristic features of early-onset cases from Japanese endemic foci include the presence of sensory dissociation and marked autonomic dysfunction associated with a predominant loss of small-diameter myelinated and unmyelinated nerve fibers. These characteristics are uncommon in late-onset cases from non-endemic areas.

Highlights

Transthyretin (TTR) Val30Met-associated familial amyloid polyneuropathy (FAP ATTR Val30Met) is the most common form of FAP and has become prevalent in areas other than conventional endemic foci
These findings suggest that, in addition to direct invasion of amyloid to Schwann cells, the disruption of the blood– nerve barriers contributes to the pathogenesis of neuropathy in FAP
We examined sural nerve biopsy specimens from 42 patients with FAP ATTR Val30Met using electron microscopy, focusing on the morphology of nerve microvascular endothelial cells

Summary

Introduction

Transthyretin (TTR) Val30Met-associated familial amyloid polyneuropathy (FAP ATTR Val30Met) is the most common form of FAP and has become prevalent in areas other than conventional endemic foci. Vasculopathy in transthyretin Val30Met familial amyloid polyneuropathy Haruki Koike*, Shohei Ikeda, Mie Takahashi, Yuichi Kawagashira, Masahiro Iijima, Masahisa Katsuno, Gen Sobue From First European Congress on Hereditary ATTR amyloidosis Paris, France.

Results

Conclusion