Carpal Tunnel Syndrome Secondary To Transthyretin Amyloidosis

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Carpal Tunnel Syndrome Secondary To Transthyretin Amyloidosis

Authors, Editors, Case Information Author: Adam Girmann, MD Affiliation: Inertia Medical Co Author(s): Jeremy Girmann, DO, RMSK Senior Editor: Laura Mattson, DO Clinical Vignette: A 79-year-old male presented with progressive numbness and tingling in digits 1-3 of the right hand, along with wrist and hand pain. Physical exam demonstrated altered sensation in the median nerve distribution and thenar eminence atrophy. The atypical ultrasound findings during evaluation prompted further diagnostic workup, which ultimately led to a diagnosis of Transthyretin Amyloidosis (ATTR). Type of Probe Used: 4-12 MHz high frequency linear array transducer Unlabeled short axis view of the carpal tunnel inlet Unlabeled short axis view of the carpal tunnel inlet. Labeled short axis view of the carpal tunnel inlet Labeled short axis view of the carpal tunnel inlet with an enlarged median nerve at the carpal tunnel inlet with cross-sectional area (CSA) measuring 25 mm² areas of relative hyperechogenicity within the median nerve itself (yellow arrows). Unlabeled long axis view of the median nerve Unlabeled long axis view of the median nerve at the wrist. Labeled long axis view of the median nerve Labeled long axis view of the median nerve at the wrist demonstrating progressive distal tapering of the median nerve within the carpal tunnel, with surrounding homogeneous isoechoic soft tissue (blue arrows). Unlabeled short axis view of the mid carpal tunnel Unlabeled short axis view of the mid carpal tunnel. Labeled short axis view of the mid carpal tunnel Labeled short axis view of the mid carpal tunnel. with the median nerve becoming poorly visualized distally, consistent with severe compression and surrounding infiltrative tissue. #7 - Video View Video Short Axis Cine of the median nerve from proximal to distal through the carpal tunnel. As the nerve courses distally, there is abrupt tapering and compression within the carpal tunnel, with the median nerve becoming poorly visualized distally. The nerve is surrounded throughout the tunnel by diffuse, homogeneous isoechoic soft tissue. Interpretation Image Interpretation: Marked enlargement of the median nerve at the level of the carpal tunnel inlet, with a cross-sectional area measuring approximately 25mm², significantly above established diagnostic thresholds for carpal tunnel syndrome (Normal CSA is <10 mm², borderline is 10-12 mm², abnormal is >12 mm²). As the nerve courses distally, there is abrupt tapering and compression within the carpal tunnel, with the median nerve becoming poorly visualized distally. The nerve is surrounded throughout the tunnel by diffuse, homogenous isoechoic soft tissue. These findings are consistent with severe compressive median neuropathy in the setting of infiltrative soft tissue deposition. Teaching Pearl: Carpal tunnel syndrome can be an early manifestation of transthyretin amyloidosis, particularly when it is bilateral, severe, recurrent, or accompanied by unusually marked median nerve enlargement on ultrasound (although cross-sectional area can be normal as well). Sonographic findings should be interpreted in context with systemic red flags such as cardiomyopathy, spinal stenosis, autonomic symptoms, and family history. Ultrasound can identify typical carpal tunnel syndrome and also raise suspicion for an infiltrative etiology when the pattern is atypical. In those patients, treating the wrist alone may miss an important systemic diagnosis. References: 1. Gandhi Mehta RK, Miller N, Cartwright MS, Traub R, Evans J. Ultra high-resolution ultrasound features of carpal tunnel syndrome in transthyretin amyloidosis: a cross-sectional study. Muscle Nerve. 2026;73(5):867-874. doi:10.1002/mus.70181 2. Salvalaggio A, Coraci D, Cacciavillani M, et al. Nerve ultrasound in hereditary transthyretin amyloidosis: red flags and possible progression biomarkers. J Neurol. 2021;268(1):189-198. doi:10.1007/s00415-020-10127-8 3. Donnelly JP, Hanna M, Sperry BW, Seitz WH Jr. Carpal tunnel syndrome: a potential early, red-flag sign of amyloidosis. J Hand Surg Am. 2019;44(10):868-876. doi:10.1016/j.jhsa.2019.06.016
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Authors, Editors, Case Information

Unlabeled short axis view of the carpal tunnel inlet

Labeled short axis view of the carpal tunnel inlet

Unlabeled long axis view of the median nerve

Labeled long axis view of the median nerve

Unlabeled short axis view of the mid carpal tunnel

Labeled short axis view of the mid carpal tunnel

#7 - Video

Interpretation

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