Background: Hereditary transthyretin amyloidosis (hATTR) is associated with significant morbidity and mortality. Early diagnosis and treatment are essential to improve patient's outcome. Carpal tunnel syndrome (CTS) is a common complication of hATTR amyloidosis. However, because CTS is also common in the general population, we wanted to assess whether CTS, when associated with systemic manifestations, could help direct physicians to screen for TTR gene mutation and early diagnosis.
Methods: We reviewed the charts and interviewed the patients with hATTR seen between 2017 and 2018. We noted the details of CTS diagnosis, treatment, and other systemic features of the disease.
Results: Seventeen of the 23 patients studied had CTS. CTS was the first manifestation of the disease in 10 of 17 patients. On average, CTS symptoms occurred 10.4 years before their diagnosis of hATTR amyloidosis. In 6 of 10 patients with CTS, the following systemic symptoms were present as the first manifestation: erectile dysfunction, dysautonomia, polyneuropathy, exercise intolerance, and gastrointestinal and ocular symptoms.
Conclusion: CTS occurs in most patients with hATTR amyloidosis and frequently precedes the hATTR diagnosis. Most patients with CTS preceding hATTR diagnosis have systemic features. Recognizing systemic features at the time of CTS presentation may help in early diagnosis of hATTR amyloidosis.
© 2019 American Academy of Neurology.