Overcoming barriers to early diagnosis and treatment of p.Val142Ile amyloid transthyretin (ATTR) cardiomyopathy

The most common hereditary transthyretin (ATTRv) amyloidosis variant in the United States, Val122Ile (p.Val142Ile), is predominantly detected in populations of African ancestry. In this narrative review, we highlight the current challenges and discuss priority focus areas to improve the timely diagnosis and treatment of p.Val142Ile ATTRv amyloidosis across populations. Studies suggest geographic, economic, and socio-economic discordance in timely diagnosis, treatment access, and outcomes in regions with a high proportion of at‑risk individuals. Many ATTR amyloidosis symptoms overlap with other diseases due to their nonspecific and heterogenous nature. Consequently, optimized screening tools for biomarker identification and specialty care services/networks are required to determine at-risk individuals and improve clinical outcomes. However, access to genetic screening can be limited and diagnosis is complicated by variable p.Val142Ile ATTRv amyloidosis penetrance coupled with phenotypic evolution. To enhance existing treatment guidelines, regular monitoring of "at-risk" patients, multidisciplinary management, and purposeful clinical trial recruitment of minority populations are recommended.