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. 2022 May;43(5):3387-3394.
doi: 10.1007/s10072-021-05749-3. Epub 2021 Nov 21.

High-resolution ultrasound of peripheral nerves in late-onset hereditary transthyretin amyloidosis with polyneuropathy: similarities and differences with CIDP

Luca Leonardi #  1 , Giuseppe Di Pietro #  2 , Antonella Di Pasquale  3 , Fiammetta Vanoli  3 , Laura Fionda  3 , Matteo Garibaldi  3 , Eleonora Galosi  2 , Girolamo Alfieri  3 , Antonio Lauletta  3 , Stefania Morino  3 , Marco Salvetti  3   4 , Andrea Truini  2 , Giovanni Antonini  3
Affiliations

High-resolution ultrasound of peripheral nerves in late-onset hereditary transthyretin amyloidosis with polyneuropathy: similarities and differences with CIDP

Luca Leonardi et al. Neurol Sci. 2022 May.

Abstract

Introduction: Hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN) remains a diagnostic challenge due to clinical, neurophysiological, and laboratory findings suggestive of other diagnoses, particularly chronic inflammatory demyelinating polyneuropathy (CIDP). In this cross-sectional prospective study, we aimed to investigate the utility of high-resolution ultrasonography of peripheral nerves as a diagnostic tool to differentiate ATTRv-PN from CIDP.

Methods: In 11 treatment-naive patients with genetically confirmed late-onset ATTRv-PN and 25 patients with CIDP, we collected clinical, electrodiagnostic, and high-resolution ultrasonography data of the peripheral nerves. In each patient, we used high-resolution ultrasonography to assess 26 nerve sites.

Results: Of the 11 patients with ATTRv-PN, two had electrodiagnostic study data compatible with a CIDP diagnosis. High-resolution ultrasonography showed that the cross-sectional area of the brachial plexus, median nerve at the axilla, arm, and forearm, ulnar nerve at the forearm, and peroneal nerve at the popliteal fossa were significantly smaller in the 11 ATTRv-PN patients than in CIDP patients. However, in the two patients with electrodiagnostic study data compatible with a CIDP diagnosis, high-resolution nerve ultrasonography data were comparable to those in patients with CIDP.

Conclusion: Although high-resolution ultrasonography of peripheral nerves provides reliable information in patients with ATTRv-PN, its usefulness as a standalone diagnostic tool to differentiate ATTRv-PN from CIDP might be limited.

Keywords: ATTRv-PN; CIDP; Hereditary transthyretin amyloidosis with polyneuropathy; High-resolution ultrasonography.

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