J Electrodiagn Neuromuscul Dis.  2021 Dec;23(3):99-103. 10.18214/jend.2021.00094.

Hereditary Transthyretin Amyloidosis Misdiagnosed as Demyelinating Neuropathy: A Report of Three Cases

• Choi K
• Oh J

• KMID: 2526160
• DOI: http://doi.org/10.18214/jend.2021.00094

Abstract

Transthyretin amyloidosis (aTTR) is a life-threatening type of systemic amyloidosis that has been associated with autosomal dominant mutations in the transthyretin gene. In this case series, we reviewed 3 patients initially treated for acquired demyelinating neuropathy that was later confirmed by pathologic testing and genetic analysis as aTTR. These patients had systemic symptoms and family records of sudden deaths that could not be explained by acquired demyelinating neuropathy. Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is a treatable neuropathy; however, 20% to 33% of CIDP patients remain refractory to conventional immunotherapy, and incorrect diagnoses might be the cause of this therapeutic failure. This case series revealed that the electrophysiological findings of aTTR could resemble the findings of demyelinating neuropathy.

Keyword

Amyloidosis; Polyneuropathies; Polyradiculoneuropathy, chronic inflammatory demyelinating