Quantitative sensory testing: a good tool to identify subclinical neuropathy in ATTRV30M amyloidosis patients?

Background: Quantitative sensory testing (QST) has been one of the neurophysiological tools used for follow-up and disease progression assessment in ATTRv amyloidosis. We aimed to detect the utility of QST in identifying subclinical neuropathic involvement in ATTRV30M amyloidosis carriers.

Methods: A cohort of ATTRV30M amyloidosis carriers were assessed with vibratory (VDT) and cooling (CDT) detection thresholds and heat pain responses. Subjects were divided into asymptomatic carriers (Group 1), paucisymptomatic carriers (Group 2) and stage 1 ATTRv-PN patients (Group 3). Nonparametric statistics were used for group comparisons.

Results: A total of 207 ATTRV30M amyloidosis carriers (83 males) were included. Of these, 113 subjects were asymptomatic and 94 symptomatic carriers. In asymptomatic carriers, CDT and Heat Pain (HP 5.0 and HP 0.5) were significantly lower when compared to both group of symptomatic carriers ( ≤ 0.005). In Group 3, VDT, CDT and HP 5.0 were significantly higher, when compared to Group 2 ( < 0.05).

Conclusions: QST, in particular CDT, HP 5 and HP 0.5 modalities, seems a good tool to identify subclinical neuropathy in ATTRv amyloidosis carriers, with CDT showing a higher sensitivity to detect and early neuropathic involvement.