Characteristics of a single-center cohort of patients with hereditary transthyretin amyloidosis (P13-8.015)

Abstract

<h3>Objective:</h3> To describe patients’ characteristics of a large cohort of patients with hereditary transthyretin amyloidosis (hATTR) seen at the Penn Amyloidosis Center between 2018 and 2022. <h3>Background:</h3> The characteristics of hATTR patients and their prognosis varies greatly depending on the type of TTR mutation and whether the patient lives in an endemic area versus a non-endemic area. There is a need for referring physicians to better understand characteristics of hATTR patients in the US. <h3>Design/Methods:</h3> 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. <h3>Results:</h3> 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. <h3>Conclusions:</h3> 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. <b>Disclosure:</b> Mr. Sarmiento Bustamante has nothing to disclose. Dr. Qarni has nothing to disclose. Dr. Simoes Jones has nothing to disclose. Dr. Khella has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Ionis. Dr. Khella has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Ionis. Dr. Khella has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Pfizer. Dr. Khella has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Alnylum. Dr. Khella has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Eidos. Brian Drachman has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Alnylam. Brian Drachman has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Akcea. Dr. Pieretti has nothing to disclose. Dr. Karam has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Alnylam. Dr. Karam has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Ionis. Dr. Karam has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Sanofi. Dr. Karam has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Argenx. Dr. Karam has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Alexion. Dr. Karam has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Neuroderm.