RT Journal Article SR Electronic T1 Changes in pathological and biochemical findings of systemic tissue sites in familial amyloid polyneuropathy more than 10 years after liver transplantation JF Journal of Neurology, Neurosurgery & Psychiatry JO J Neurol Neurosurg Psychiatry FD BMJ Publishing Group Ltd SP 740 OP 746 DO 10.1136/jnnp-2013-305973 VO 85 IS 7 A1 Oshima, Toshinori A1 Kawahara, Satomi A1 Ueda, Mitsuharu A1 Kawakami, Yushi A1 Tanaka, Rina A1 Okazaki, Takahiro A1 Misumi, Yohei A1 Obayashi, Konen A1 Yamashita, Taro A1 Ohya, Yuki A1 Ihse, Elisabet A1 Shinriki, Satoru A1 Tasaki, Masayoshi A1 Jono, Hirofumi A1 Asonuma, Katsuhiro A1 Inomata, Yukihiro A1 Westermark, Per A1 Ando, Yukio YR 2014 UL http://jnnp.bmj.com/content/85/7/740.abstract AB Objective To elucidate the long-term effects of liver transplantation (LT) on familial amyloid polyneuropathy (FAP). Methods We 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. Results Several 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. Conclusions FAP 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.