A case of familial amyloid polyneuropathy due to Phe33Val TTR with vitreous involvement as the initial manifestation

Syoichiro Kono; Yasuhiro Manabe; Tomotaka Tanaka; Daiki Fujii; Yasuko Sakai Hisashi Narai; Nobuhiko Omori; Mitsuharu Ueda; Yukio Ando; Koji Abe

doi:10.2169/internalmedicine.49.3355

A case of familial amyloid polyneuropathy due to Phe33Val TTR with vitreous involvement as the initial manifestation

Syoichiro Kono, Yasuhiro Manabe, Tomotaka Tanaka, Daiki Fujii, Yasuko Sakai Hisashi Narai, Nobuhiko Omori, Mitsuharu Ueda, Yukio Ando, Koji Abe

Research output: Contribution to journal › Article › peer-review

8 Citations (Scopus)

Abstract

We report a 61-year-old Japanese woman with transthyretin (TTR) Val33-related familial amyloid polyneuropathy (FAP). She presented with late-onset, vitreous involvement as the initial manifestation, slow development of polyneuropathy, cardiomyopathy, and severe autonomic failure without carpal tunnel syndrome. Liver transplantation was performed and her postoperative course was stable. Taken together with previous reports, vitreous opacities seem to be common to Val33 FAP. Vitreous amyloidosis is usually seen in combination with the involvement of other visceral organs. The findings in the present case emphasize that vitreous opacities could be the first manifestation of FAP.

Original language	English
Pages (from-to)	1213-1216
Number of pages	4
Journal	Internal Medicine
Volume	49
Issue number	12
DOIs	https://doi.org/10.2169/internalmedicine.49.3355
Publication status	Published - 2010

Keywords

Familial amyloid polyneuropathy
Transthyretin
Vitreous involvement

ASJC Scopus subject areas

Internal Medicine

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10.2169/internalmedicine.49.3355

Cite this

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title = "A case of familial amyloid polyneuropathy due to Phe33Val TTR with vitreous involvement as the initial manifestation",

abstract = "We report a 61-year-old Japanese woman with transthyretin (TTR) Val33-related familial amyloid polyneuropathy (FAP). She presented with late-onset, vitreous involvement as the initial manifestation, slow development of polyneuropathy, cardiomyopathy, and severe autonomic failure without carpal tunnel syndrome. Liver transplantation was performed and her postoperative course was stable. Taken together with previous reports, vitreous opacities seem to be common to Val33 FAP. Vitreous amyloidosis is usually seen in combination with the involvement of other visceral organs. The findings in the present case emphasize that vitreous opacities could be the first manifestation of FAP.",

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author = "Syoichiro Kono and Yasuhiro Manabe and Tomotaka Tanaka and Daiki Fujii and Narai, {Yasuko Sakai Hisashi} and Nobuhiko Omori and Mitsuharu Ueda and Yukio Ando and Koji Abe",

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T1 - A case of familial amyloid polyneuropathy due to Phe33Val TTR with vitreous involvement as the initial manifestation

AU - Kono, Syoichiro

AU - Manabe, Yasuhiro

AU - Tanaka, Tomotaka

AU - Fujii, Daiki

AU - Narai, Yasuko Sakai Hisashi

AU - Omori, Nobuhiko

AU - Ueda, Mitsuharu

AU - Ando, Yukio

AU - Abe, Koji

PY - 2010

Y1 - 2010

N2 - We report a 61-year-old Japanese woman with transthyretin (TTR) Val33-related familial amyloid polyneuropathy (FAP). She presented with late-onset, vitreous involvement as the initial manifestation, slow development of polyneuropathy, cardiomyopathy, and severe autonomic failure without carpal tunnel syndrome. Liver transplantation was performed and her postoperative course was stable. Taken together with previous reports, vitreous opacities seem to be common to Val33 FAP. Vitreous amyloidosis is usually seen in combination with the involvement of other visceral organs. The findings in the present case emphasize that vitreous opacities could be the first manifestation of FAP.

AB - We report a 61-year-old Japanese woman with transthyretin (TTR) Val33-related familial amyloid polyneuropathy (FAP). She presented with late-onset, vitreous involvement as the initial manifestation, slow development of polyneuropathy, cardiomyopathy, and severe autonomic failure without carpal tunnel syndrome. Liver transplantation was performed and her postoperative course was stable. Taken together with previous reports, vitreous opacities seem to be common to Val33 FAP. Vitreous amyloidosis is usually seen in combination with the involvement of other visceral organs. The findings in the present case emphasize that vitreous opacities could be the first manifestation of FAP.

KW - Familial amyloid polyneuropathy

KW - Transthyretin

KW - Vitreous involvement

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A case of familial amyloid polyneuropathy due to Phe33Val TTR with vitreous involvement as the initial manifestation

Abstract

Keywords

ASJC Scopus subject areas

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