Sudoscan in the evaluation and follow-up of patients and carriers with TTR mutations: experience from an Italian Centre

Abstract

Objective: To evaluate the utility of Sudoscan as possible marker of disease progression and disease onset in a cohort of hereditary ATTR amyloidosis (hATTR amyloidosis) polyneuropathy patients and carriers.

Patients and methods: We regularly performed different clinical scales, nerve conductions studies (NCS), and Sudoscan on a cohort of hATTR amyloidosis patients and carriers from a single centre of central Italy, a non-endemic area, in the last 2 years.

Results: About 18 hATTR amyloidosis patients and 8 asymptomatic carriers were enrolled. All patients had a neuropathy affecting large fibres, small fibres or both. Two subjects developed symptoms and neurophysiological alterations during follow-up. Sudoscan data from hand and feet inversely correlated with neuropathy severity and with disease duration. Moreover, global disease status, expressed by Kumamoto scale also inversely correlated with Sudoscan values.

Conclusions: We confirmed that Sudoscan is a reliable marker of disease progression in late-onset hATTR amyloidosis patients and we suggest its possible utility in early detection of disease in this population.

Keywords:

• TTR
• amyloid
• small fibre
• patient
• carrier
• neuropathy
• Sudoscan

Disclosure statement

Dr Luigetti received financial grants (honoraria and speaking) from Alnylam and Pfizer, and travel grants from Pfizer, Kedrion and Grifols; Dr Bisogni received financial grants (honoraria and speaking) from Alnylam, and travel grants from Pfizer, Kedrion and Grifols; Dr Romano received travel grants from Pfizer; Dr Di Paolantonio received travel grants from Pfizer; Dr Barbato received travel grants from Pfizer; Dr Primicerio, Dr Rossini, Dr Servidei, and Dr Sabatelli have none potential conflicts of interest to be disclosed.