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Updated: Sep 15, 2025

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
The Relationship between Carpal Tunnel Syndrome and Wild-Type ATTR Amyloidosis
Kenji Goto1,2, Ryosuke Ikeguchi1,3, Takashi Noguchi1
1Department of Orthopaedic Surgery, Kyoto University, Kyoto City, Kyoto, Japan.
Abstract:
Background: Carpal tunnel syndrome (CTS), which is frequently encountered in orthopaedic practice, is an early symptom of wild-type transthyretin amyloidosis (ATTRwt). ATTRwt has a high misdiagnosis rate, making early detection difficult, which in turn delays treatment and results in a poor prognosis. Therefore, we herein investigated whether the early diagnosis of CTS leads to the early detection and treatment of ATTRwt, ultimately improving its prognosis. Methods: This study included 42 patients diagnosed with ATTRwt (34 males, 8 females; mean age: 77.7 years). We investigated the presence of a history of CTS, the affected side, the duration from the CTS diagnosis to ATTRwt confirmation, the number of deaths and the number of referrals from orthopaedic surgeons to cardiologists. Results: A history of CTS was present in 26 cases, with 15 being bilateral CTS. The average duration from the CTS diagnosis to ATTRwt confirmation was 6.4 years. Four patients died, and there were no referrals from orthopaedic surgeons to cardiologists. Conclusions: The present results showed that 61.9% of patients diagnosed with ATTRwt had a history of CTS, suggesting that CTS is a predictive factor for ATTRwt. However, the average duration from the CTS diagnosis to ATTRwt confirmation was 6.4 years, indicating a significant delay. One reason for this delay is that orthopaedic surgeons may not be aware of the relationship between CTS and ATTRwt, as suggested by the result showing no referrals from orthopaedic surgeons to cardiologists. Level of Evidence: Level IV (Diagnostic).
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