[Hereditary transthyretin amyloidosis: A multifaceted disease]

Abstract

Hereditary transthyretin amyloidosis (ATTRv, amyloidosis transthyretin variant) encompasses a broad spectrum of clinical manifestations, with polyneuropathy and cardiomyopathy being the most common organ manifestations. In addition, other organ systems such as kidneys, gastrointestinal tract, eyes and brain may be affected. If left untreated, the disease progresses rapidly, leading to significantly reduced quality of life and increased mortality. Early diagnosis is of particular importance, as drug treatment options have been available for a few years.

Keywords: multi- organ involvement; polyneuropathy; transthyretin amyloidosis.