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

CASE REPORTS

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

Author information

Syoichiro Kono
Department of Neurology, National Hospital Organization Okayama Medical Center
Yasuhiro Manabe
Department of Neurology, National Hospital Organization Okayama Medical Center
Tomotaka Tanaka
Department of Neurology, National Hospital Organization Okayama Medical Center
Daiki Fujii
Department of Neurology, National Hospital Organization Okayama Medical Center
Yasuko Sakai
Department of Neurology, National Hospital Organization Okayama Medical Center
Hisashi Narai
Department of Neurology, National Hospital Organization Okayama Medical Center
Nobuhiko Omori
Department of Neurology, National Hospital Organization Okayama Medical Center
Mitsuharu Ueda
Department of Diagnostic Medicine, Graduate School of Medical Sciences, Kumamoto University
Yukio Ando
Department of Diagnostic Medicine, Graduate School of Medical Sciences, Kumamoto University
Koji Abe
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University

Keywords: familial amyloid polyneuropathy, transthyretin, vitreous involvement

JOURNAL OPEN ACCESS

2010 Volume 49 Issue 12 Pages 1213-1216

DOI https://doi.org/10.2169/internalmedicine.49.3355

Details

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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