We performed a retrospective chart review of all patients seen at the University of Pennsylvania between 2018 and 2022 with confirmed hATTR. Data was collected on patient demographics, TTR gene mutations, and symptomatology.

164 patients with hATTR were identified. 98 patients (60%) were male, and 66 (40%) were female. The most common gene mutations were V122I (87 patients, 53%), T60A (32 patients, 20%), and V30M (17 patients, 10%), and Phe64 (12 patients, 7%). 122 (74%) patients were symptomatic. The average age for these patients at symptom onset was 64 years; average age at diagnosis was 67 years. 22 patients (13%) were deceased at the time of chart review, on average 20 months after diagnosis and 45 months after symptom onset. 47 symptomatic patients (39%) had only cardiac symptoms such as congestive heart failure, 15 patients (12%) had only neurological symptoms such as neuropathy, and 60 patients (49%) had both cardiac and neurological symptoms. 20 symptomatic patients (16%) had concurrent diabetes, and 54 patients (44%) had a history of carpal tunnel syndrome.

This study summarizes characteristics of a large patient cohort at an urban academic referral center. These findings can help physicians taking care of hATTR patients discuss disease behavior and prognosis in their patient population. Overall, a trend in shorter diagnosis delay was observed in our study showing the possibility of increase awareness about hATTR among referring physicians.