The journey to diagnosis of wild-type transthyretin-mediated (ATTRwt) amyloidosis: a path with multisystem involvement

Abstract

Abstract Background: Wild-type and hereditary transthyretin-mediated amyloidosis (ATTRwt and ATTRv amyloidosis, respectively) are progressive, fatal diseases with a broad range of clinical presentations and multisystem effects. Despite having a higher prevalence, ATTRwt amyloidosis is less well characterized due to its non-hereditary nature, and its relatively poorer disease awareness delays diagnosis. Understanding of its natural history has evolved in recent years, but this is largely based on physician-collected data rather than patients’ reports of their own experiences. Results: Using a mixed-methods approach, we first conducted a US-based survey to explore how the journey of patients with ATTRwt amyloidosis differs from that of patients with ATTRv amyloidosis. The results revealed a high disease burden for patients with both conditions, with patients with ATTRwt reporting more diagnoses and procedures prior to their final diagnosis. Through further in-depth interviews with participants with ATTRwt amyloidosis, we present direct quotes from patients illustrating the paths they often take to diagnosis, through interactions with multiple physicians and specialists, and the opportunities for earlier diagnosis. Conclusions: Our study provides insight into the overall impact of the patient journey on their quality of life and demonstrates how increased awareness of ATTRwt amyloidosis and more coordinated engagement with physicians could reduce the time to diagnosis.