Optimizing Diagnosis of Transthyretin Amyloidosis Cardiomyopathy in Japan: Care Pathway Barriers and Opportunities.

BACKGROUND

Transthyretin amyloidosis cardiomyopathy (ATTR-CM) is a progressive, underdiagnosed cause of heart failure, particularly among older adults. Despite updated Japanese Circulation Society (JCS) guidelines and advances in imaging and therapies, diagnostic delays and variability persist. Understanding real-world barriers is essential for improving patient outcomes.

METHODS AND

RESULTS

A mixed-methods approach was used to develop an evidenced care pathway for ATTR-CM in Japan. A literature review of guidelines and epidemiological data informed a draft pathway. Semistructured interviews with 5 cardiologists from JCS-certified and regional hospitals explored perceived deviations from guidelines and barriers to care. Thematic analysis highlighted 5 perceived challenges: variability in physician awareness, particularly outside heart failure subspecialties; the influence of symptom type and entry point on diagnostic delay; fragmented referral pathways; low patient awareness and disengagement due to complex processes; and limited access to and interpretation of diagnostic tests.

CONCLUSIONS

Removal of the tissue biopsy requirement for diagnosis and treatment prescription is an important step towards less invasive care and broader treatment access. However, challenges remain in ensuring that non-invasive diagnostic methods are widely available and correctly interpreted. The exploratory findings reported here suggest that addressing awareness gaps, referral fragmentation, and variations in diagnostic expertise may help realize the benefits of non-biopsy diagnosis in Japan.