OBJECTIVES: Diagnosis and treatment of amyloidosis, a rare disease, has historically been primarily at larger academic institutions where one or a team of clinicians either specialize or have experience treating patients with amyloidosis. With the first treatment for one type of amyloidosis, transthyretin amyloidosis (ATTR), approved in 2018, there has been an increase in initiatives to raise disease awareness throughout the medical community. This research aims to determine if there have been improvements in disease awareness by examining the changes in where amyloidosis patients have been diagnosed.

METHODS: The Amyloidosis Research Consortium (ARC) conducted an online survey of patients with amyloidosis and their caregivers in April 2022. Data collected included demographics, disease characteristics, and the pathway to diagnosis. Specialized Amyloidosis Centers were defined based on their many years of experience, multidisciplinary care, and high numbers of patients treated as evaluated previously by ARC and independently by the International Society of Amyloidosis.

RESULTS: Of the 597 ATTR patients and caregivers included in this analysis, 370 (62%) had wild-type ATTR, 554 (93%) lived in North America, 402 (68%) were male, 546 (91%) were white, and the mean age was 72 years. 214 (36%) were diagnosed at a Specialized Amyloidosis Center, 357 (60%) were diagnosed in 2019 or later, and the mean time from symptom onset to diagnosis was 4 years.

CONCLUSIONS: The broader awareness within the medical community on transthyretin amyloidosis has allowed patients to be diagnosed and receive treatment at a wider range of centers. Since 2019, more patients have been able to get diagnosed at potentially more local centers, removing the need for patients to travel far for care. Further efforts are needed to increase awareness across all types of amyloidosis and to reduce the time to diagnosis from symptom onset.