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

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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 languageEnglish
Pages (from-to)1213-1216
Number of pages4
JournalInternal Medicine
Volume49
Issue number12
DOIs
Publication statusPublished - Jul 1 2010

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Keywords

  • Familial amyloid polyneuropathy
  • Transthyretin
  • Vitreous involvement

ASJC Scopus subject areas

  • Internal Medicine

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