To describe the updated time delay between symptoms of carpal tunnel syndrome (CTS) and diagnosis of hereditary transthyretin amyloidosis (hATTR) as well as opportunities for improvement.

CTS is common in many genetic mutations of hATTR amyloidosis, with manifestations known to oftentimes greatly precede diagnosis of amyloidosis, in one recent study by an average of 10.4 years (Karam 2019). In addition, there is a high rate of positive Congo Red staining in tenosynovial tissue after release surgeries, in one study 10%, among these 20% ultimately diagnosed with hATTR (Sperry 2018). These statistics are alarming given the missed opportunities for a timely hATTR diagnosis.

A retrospective chart review of all consecutive patients evaluated at a single United States Amyloidosis Center between January 1, 2016 to December 31, 2018 was performed. Variables coded included genetic mutation, symptoms of CTS, timing of symptoms of CTS, past neurophysiological testing for CTS, carpal tunnel release surgeries, staining results and others.

Of 92 total patients, 67 (72.8%) had symptoms of CTS (unilateral or bilateral). The average delay between onset of CTS symptoms and hATTR diagnosis was 5.8 years. The respective prevalence of symptoms of CTS among most common mutations was 83% (V30M), 80% (L58H), 75% (T60A) and 64% (V122I). Ninety-five percent of patients who had CTS symptoms without neurophysiological confirmation prior to evaluation at the center were recommended to have neurophysiological studies after neurological evaluation. Twenty-five patients had prior release surgeries without tenosynovial tissue staining.

The updated delay of 5.8 years between onset of CTS symptoms and hATTR diagnosis compared to longer delays previously described suggests better awareness of hATTR in the community. Nonetheless, important efforts for earlier diagnoses should be directed towards lower threshold for staining of tenosynovial tissue after release surgeries and earlier confirmatory neurophysiological studies ideally prior to center referral.