Late-onset Transthyretin (TTR)-familial Amyloid Polyneuropathy (FAP) with a Long Disease Duration from Non-endemic Areas in Japan

Zenshi Miyake; Kiyotaka Nakamagoe; Naoki Ezawa; Tsuneaki Yoshinaga; Ryosuke Hashimoto; Taiki Sato; Yoshiki Sekijima; Akira Tamaoka

doi:10.2169/internalmedicine.1457-18

CASE REPORTS

Late-onset Transthyretin (TTR)-familial Amyloid Polyneuropathy (FAP) with a Long Disease Duration from Non-endemic Areas in Japan

Zenshi Miyake, Kiyotaka Nakamagoe, Naoki Ezawa, Tsuneaki Yoshinaga, Ryosuke Hashimoto, Taiki Sato, Yoshiki Sekijima, Akira Tamaoka

Author information

Zenshi Miyake
Department of Neurology, University of Tsukuba Hospital, Japan
Kiyotaka Nakamagoe
Department of Neurology, Faculty of Medicine, University of Tsukuba, Japan
Naoki Ezawa
Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Japan
Tsuneaki Yoshinaga
Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Japan
Ryosuke Hashimoto
Department of Pathology, University of Tsukuba Hospital, Japan
Taiki Sato
Department of Diagnostic Pathology, Faculty of Medicine, University of Tsukuba, Japan
Yoshiki Sekijima
Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Japan
Akira Tamaoka
Department of Neurology, Faculty of Medicine, University of Tsukuba, Japan

Keywords: transthyretin familial amyloid polyneuropathy, non-endemic area, Val30Met mutation, polyneuropathy, vitreous opacity, orthostatic hypotension

JOURNAL OPEN ACCESS

2019 Volume 58 Issue 5 Pages 713-718

DOI https://doi.org/10.2169/internalmedicine.1457-18

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Abstract

We herein report the case of an 84-year-old woman with transthyretin (TTR) Val30Met-associated familial amyloid polyneuropathy (FAP-ATTR Val30Met), representing a very old case. The patient had muscle weakness and sensory disturbances in her extremities caused by severe peripheral neuropathy. She also had vitreous opacity and orthostatic hypotension, and pyrophosphate scintigraphy showed a myocardial accumulation. Esophagogastroduodenoscopy revealed mucosal amyloid deposits, positive in anti-TTR antibody staining. A TTR gene analysis isolated the Val30Met mutation. More than a few cases of FAP-ATTR develop late, like our own, and their familial histories are often obscure in non-endemic areas, which might make a diagnosis difficult.

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