Delays in diagnosis and treatment of ATTR cardiac amyloidosis: A real-world data analysis.

AIMS AND BACKGROUND

Cardiac amyloidosis leads to functional cardiac impairment and heart failure. Transthyretin amyloid cardiomyopathy (ATTR-CM) is the most common form. After initial suspicion, diagnosis involves imaging techniques, biopsy and genetic tests, prompting transthyretin stabilizer therapy to slow disease progression. The study aims to assess delays in diagnosis in ATTR-CM patients.

METHODS

Patients with ATTR-CM receiving transthyretin stabilizer therapy at the West German Amyloidosis Center (01/2018-12/2023) were included. Clinical, laboratory, and imaging data were analysed. Diagnostic timelines were compared across two periods (2018-2020 and 2021-2023).

RESULTS

After screening 254 patients, 154 were included in the analysis. ATTRwt was the most common form (96.8%). The median age was 80 (76-83) years, 87% were male and 46.6% were NYHA class ≥III. Time to diagnosis decreased from 398 to 277 days in the second period (P < 0.001). The median duration from diagnosis to stabilizer therapy was 84 (44-160) days, reducing from 111 (55-237) days in the first period to 57 (36-102) days in the second period (P < 0.001). Patients diagnosed in the first period had lower LVEF (P < 0.001) and more advanced NAC stages (P = 0.004). More women were diagnosed in the second period (P = 0.010).

CONCLUSION

ATTR-CM is associated with diagnostic delays from initial suspicion to therapy initiation. While diagnostic and treatment timelines have improved, enhanced awareness, supraregional networks, specialized centres and focused education are essential to improve diagnosis and outcomes. Increasing awareness has led to patients being diagnosed at earlier disease stages, underscoring the potential to positively impact patient prognosis.