Abstract | OBJECTIVE: METHODS: Consecutive six FAP patients (mean age: 65.8 ± 7.3 years) with a transthyretin (TTR) Val30Met mutation from an endemic area of late-onset FAP were prospectively recruited to an open label study with oral diflunisal (250 mg twice a day). We evaluated clinical symptoms, Kumamoto FAP score, modified body mass index (mBMI), Medical Research Council sum score, nerve conduction studies (NCS), electrocardiogram (ECG), ECG Holter monitor test, echocardiography, and (123)iodine-metaiodobenzylguanidine ((123)I-MIBG) myocardial scintigraphy. RESULTS: One patient ceased to take diflunisal because of hematuria which was reversible. The other five patients were treated with diflunisal for 3-5 (4.4 ± 0.9 years) years. Autonomic symptoms ( orthostatic hypotension and gastrointestinal symptoms) disappeared after treatment in two of the four patients with the symptoms. Delayed heart to mediastinum ratio on (123)I-MIBG imaging, a marker of cardiac postganglionic sympathetic nerve function, increased during the three-year treatment. mBMI was maintained through observation period. While, motor and sensory symptoms, Kumamoto FAP scores, and data on NCS gradually deteriorated. CONCLUSION:
Diflunisal might be effective especially for autonomic dysfunction in late-onset FAP with a TTR Val30Met mutation.
|
Authors | Ryoichi Takahashi, Kenjiro Ono, Shutaro Shibata, Keiko Nakamura, Junji Komatsu, Yoshihisa Ikeda, Tokuhei Ikeda, Miharu Samuraki, Kenji Sakai, Kazuo Iwasa, Daiki Kayano, Masahito Yamada |
Journal | Journal of the neurological sciences
(J Neurol Sci)
Vol. 345
Issue 1-2
Pg. 231-5
(Oct 15 2014)
ISSN: 1878-5883 [Electronic] Netherlands |
PMID | 25060417
(Publication Type: Journal Article)
|
Copyright | Copyright © 2014 Elsevier B.V. All rights reserved. |
Chemical References |
- Anti-Inflammatory Agents, Non-Steroidal
- Prealbumin
- Radiopharmaceuticals
- 3-Iodobenzylguanidine
- Diflunisal
- Methionine
- Valine
|
Topics |
- 3-Iodobenzylguanidine
- Aged
- Amyloid Neuropathies, Familial
(complications, genetics)
- Anti-Inflammatory Agents, Non-Steroidal
(therapeutic use)
- Autonomic Nervous System Diseases
(diagnostic imaging, drug therapy, etiology)
- Diflunisal
(therapeutic use)
- Electrocardiography
- Female
- Humans
- Japan
- Male
- Methionine
(genetics)
- Middle Aged
- Mutation
(genetics)
- Pharmacogenetics
- Prealbumin
(genetics)
- Radionuclide Imaging
- Radiopharmaceuticals
- Valine
(genetics)
|