P91-F Neurophysiological changes predates symptoms onset in Hereditary amyloidosis related to transthyretin V30M

Abstract

Background Hereditary amyloidosis related to transthyretin V30M (hATTR V30M) is a progressive length-dependent sensorimotor axonal neuropathy. Timely diagnosis is paramount to early treatment implementation. Materials and methods Neurophysiological data of a 4-year period from 73 hATTR V30M asymptomatic carriers was retrospectively collected. At the end of this period, 41 subjects have developed symptoms, while 32 remained asymptomatic. Composite neurophysiological scores of sensory, motor and sympathetic skin response (SSR) amplitudes were calculated. We used mixed-effects modeling to examine and compare both groups in regards to the evolution over time of each of these scores. Results A significant change in the progression of the sensory score relative to baseline was found between both subject groups, being the decline greater in the group that developed symptoms (interaction time × group with p Conclusions We present a preliminary analysis showing that changes in peripheral nerve function predates the onset of symptoms in hATTR V30M carriers by as much as 2 years. This data highlights the importance of systematic follow-up of these patients. Given the currently available pharmacological treatment options, objective early diagnosis of disease onset can have a significant impact in patient management.