• Toshinori Oshima, Satomi Kawahara, Mitsuharu Ueda, Yushi Kawakami, Rina Tanaka, Takahiro Okazaki, Yohei Misumi, Konen Obayashi, Taro Yamashita, Yuki Ohya, Elisabet Ihse, Satoru Shinriki, Masayoshi Tasaki, Hirofumi Jono, Katsuhiro Asonuma, Yukihiro Inomata, Per Westermark, and Yukio Ando.
• Department of Neurology, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, Kumamoto, Japan.
• J. Neurol. Neurosurg. Psychiatr.. 2014 Jul 1;85(7):740-6.

ObjectiveTo elucidate the long-term effects of liver transplantation (LT) on familial amyloid polyneuropathy (FAP).MethodsWe investigated clinicopathological and biochemical characteristics of systemic tissues in four autopsied cases of FAP patients surviving more than 10 years after LT and seven autopsied cases without LT. For analysing the truncated form of transthyretin (TTR) in amyloid, we also employed specimens from additional 18 FAP patients.ResultsSeveral tissue sites such as the heart, tongue and spinal cord had moderate-to-severe amyloid deposits but other tissues showed no or mild amyloid deposition. Those findings seemed similar to those observed in senile systemic amyloidosis (SSA), a sporadic amyloidosis caused by wild-type (WT) TTR. Also, amyloid deposits in systemic tissue sites except for the spinal cord in patients after LT derived mostly from WT TTR secreted from the normal liver grafts. In addition, in non-transplantation patients, proportions of WT TTR seemed to be relatively high in those tissue sites in which patients after LT had severe amyloid deposition, which suggests that WT TTR tends to form amyloid in those tissue sites. Finally, although the truncation of TTR in amyloid deposits did not depend on undergoing LT, we elucidated the truncation of TTR occurred predominantly in patients from non-endemic areas of Japan, where FAP amyloidogenic TTR V30M patients are late onset and low penetrance, compared with patients from an endemic area of Japan.ConclusionsFAP may shift to systemic WT TTR amyloid formation after LT, which seems to be similar to the process in SSA. The truncation of TTR in amyloid deposits may depend on some genetic or environmental factors other than undergoing LT.Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

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