Natural history and long-term effects of variant protein reduction in non-V30M ATTR amyloidosis.

Abstract

Hereditary transthyretin (ATTR) amyloidosis (familial amyloid polyneuropathy: FAP), which is a fatal disorder that is inherited in an autosomal dominant fashion, manifests features including accumulation of polymerized transthyretin (TTR) in systemic organs.1,2 Patients with ATTR V30M (p.TTR V50M) amyloidosis, who are found worldwide, mainly demonstrate polyneuropathy, whereas patients with non-V30M ATTR amyloidosis have various manifestations including heart failure (familial amyloid cardiopathy), renal impairment, cognitive impairment, and cerebral hemorrhage (leptomeningeal amyloidosis/cerebral amyloid angiopathy) in addition to polyneuropathy.2 The number of patients diagnosed with non-V30M ATTR amyloidosis has recently increased as a result of the utilization of genetic testing. However, the prognoses for the different phenotypes have not been well described.