Retinol binding protein 4 as a screening biomarker for hereditary TTR amyloidosis in African American adults with TTR V142I

The TTR V142I variant (previously known as V122I), associated with hereditary transthyretin amyloidosis (hATTR), is the most common TTR variant worldwide, with recent prevalence estimates of 1 in 330 individuals (1). Up to 4% of African American (AAs) in the U.S. are heterozygous for V142I (i.e., V142I+) (2), which, in part, is thought to explain the observation that cardiac amyloidosis (CA) is four times more common among AA than European descent patients over 60 years of age (3). .Non-cardiac clinical features of hATTR such as carpal tunnel syndrome, spinal stenosis and polyneuropathy ( “red flags”) can precede CA by several years, and have been observed in undiagnosed V142I+ individuals absent heart failure (HF) symptoms (4).
Source: Journal of Cardiac Failure - Category: Cardiology Authors: Source Type: research