Ultrasound evaluation in transthyretin-related amyloid neuropathy

Familial amyloid polyneuropathy is a rare condition caused by mutations of the transthyretin gene (TTR). We assessed the pattern of nerve ultrasound (US) abnormalities in patients with TTR-related neuropathy.

Seven patients with TTR-related neuropathy (TTR-N) and 5 asymptomatic TTR-mutation carriers (TTR-C) underwent neurological examination, nerve conduction studies, and US evaluation.

Multifocal US abnormalities were identified in 6 of 7 TTR-N patients. A single patient with only a mild sensory polyneuropathy had normal nerves on US evaluation. In the TTR-C, we only detected an enlarged ulnar nerve at the elbow. Interestingly, disease severity correlated with number of nerves affected on US evaluation.

No specific pattern of US abnormalities was identified in this cohort. However, in TTR-related amyloid neuropathy, US may be a helpful tool in monitoring disease progression, and/or clinical response to pharmacological treatment.