EP260: Expanding cohort of individuals with p.V142I homozygous alterations suggests presentation onset similar to heterozygotes

Abstract

Hereditary transthyretin amyloidosis (hATTR) is a progressive autosomal dominant multisystem disease caused by the abnormal formation and extracellular deposit of transthyretin protein fibrils in various tissues, including the cardiovascular, nervous, and ocular organ systems. Pathogenic alterations in the TTR gene result in a misfolding of the transthyretin protein and lead to the accumulation of abnormal fibrils throughout the body. hATTR can present in a spectrum of phenotypes. Specific disease-causing TTR alterations tend to associate with one of three broad phenotypes: polyneuropathy amyloidosis, cardiac-dominant amyloidosis, and leptomeningeal amyloidosis.