Neurológia pre prax 6/2025
The importance of monitoring asymptomatic carriers of the TTR gene mutation in hereditary transthyretin amyloidosis – a neurologist´s perspective
Hereditary transthyretin amyloidosis (hATTR) is an autosomal dominant inherited disorder caused by the deposition of amyloid composed of mutated transthyretin (TTR) or its fragments. TTR amyloid preferentially accumulates in peripheral nerves and the myocardium. Involvement of the peripheral nervous system manifests with autonomic, sensory, and motor symptoms. Without treatment, the disease is relentlessly progressive, leading to death within a few years. Causal therapy can significantly slow disease progression. It is essential to initiate treatment as early as possible, since prolonged disease duration may lead to only partially reversible changes in affected tissues. This article emphasizes the importance of regular monitoring of asymptomatic TTR mutation carriers and the use of specialized diagnostic tests that enable early detection of conversion to the symptomatic stage and the optimal timing of treatment initiation.
Keywords: transthyretin amyloid polyneuropathy, asymptomatic TTR mutation carriers, small nerve fibers
