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Amyloid
The Journal of Protein Folding Disorders
Volume 23, 2016 - Issue 1
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Original Article

Carpal tunnel syndrome: a common initial symptom of systemic wild-type ATTR (ATTRwt) amyloidosis

, , , , , , , & show all
Pages 58-63 | Received 27 Sep 2015, Accepted 21 Dec 2015, Published online: 08 Feb 2016
 

Abstract

Background: Systemic wild-type ATTR (ATTRwt) amyloidosis is a prevalent aging-related disorder. However, a limited number of systemic ATTRwt amyloidosis patients have been diagnosed antemortem, and therefore, the prevalence of ATTRwt is underestimated. Here, we investigated clinical findings of a series of systemic ATTRwt amyloidosis patients with antemortem diagnosis.

Methods: Thirty-one consecutive patients diagnosed with systemic ATTRwt amyloidosis at Shinshu University Hospital were included in this study. Systemic ATTRwt amyloidosis was diagnosed based on proven ATTR amyloid deposition in biopsy specimens and confirmation of wild-type TTR genotype.

Results: The systemic ATTRwt amyloidosis patients consisted of 24 men and seven women, and mean age of onset was 69.8 ± 9.0 years. The most common initial symptom was carpal tunnel syndrome (CTS, 17 patients), followed by heart failure symptoms (14 patients). The mean age at diagnosis was 74.5 ± 8.3 years and the duration of illness from onset to diagnosis was 5.4 ± 4.4 years. Cardiogenic embolism and renal dysfunction are also frequently seen during the course of the disease.

Conclusions: CTS is the most common initial symptom of systemic ATTRwt amyloidosis. Our results suggest the possibility of systemic ATTRwt amyloidosis diagnosis at an early stage by carefully examining patients with CTS.

Acknowledgements

The authors thank Ms. E. Nomura for her technical support.

Declaration of interest

This study was supported by a Grant-in-aid for Scientific Research (15K09336 to YS), a grant from Amyloidosis Research Committee, the Ministry of Health, Labor and Welfare, Japan, and a Group Research Grant for the Pathogenesis and Therapy for Intractable Neuropathy in Japan.

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