Hereditary transthyretin amyloidosis in African Americans

Challenges in diagnosis, patient education, and nursing implications

Abstract

Hereditary transthyretin amyloidosis (hATTR) is a rare, progressive disease caused by mutations in the transthyretin (TTR) gene, resulting in amyloid deposition in multiple organs. African Americans are disproportionately affected, primarily due to the V122I TTR variant. Despite advances in diagnostic tools and therapies, hATTR remains underdiagnosed and frequently misdiagnosed as congestive heart failure (CHF) or diabetic neuropathy, leading to delayed treatment. This article explores the epidemiology, pathophysiology, diagnosis, treatment options, and prognosis of hATTR amyloidosis, with a focused discussion on its impact within the African American community. The critical role of nurses in reducing misdiagnosis and improving patient outcomes is also highlighted. Addressing disparities and enhancing education in nursing practice are crucial steps toward better management of hATTR amyloidosis.