A Rare Case of I127V Heterozygous Transthyretin Amyloidosis With Atypical Transthoracic Echocardiogram Findings Presenting As Upper Extremity Sensorimotor Polyneuropathy

Maja Ostojic; Sukhraj S Gill; Jose David Avila; Brendan J Carry

doi:10.7759/cureus.25259

A Rare Case of I127V Heterozygous Transthyretin Amyloidosis With Atypical Transthoracic Echocardiogram Findings Presenting As Upper Extremity Sensorimotor Polyneuropathy

Cureus. 2022 May 23;14(5):e25259. doi: 10.7759/cureus.25259. eCollection 2022 May.

Authors

Maja Ostojic¹, Sukhraj S Gill², Jose David Avila², Brendan J Carry³

Affiliations

¹ Internal Medicine, Geisinger Medical Center, Danville, USA.
² Neurology, Geisinger Medical Center, Danville, USA.
³ Cardiology, Geisinger Medical Center, Danville, USA.

Abstract

Hereditary transthyretin amyloidosis (hATTR) is a class of disorders with various systemic clinical manifestations, most often cardiac and neurologic in origin. The I127V mutation is a known but uncommon type of hATTR that typically affects males in their sixth or seventh decade of life. We present a case of this rare genetic variant with an atypical presentation of upper, followed by lower extremity sensorimotor polyneuropathy, with an uncharacteristic transthoracic echocardiogram (TTE) pattern but strongly positive pyrophosphate (PYP) scan, confirming the amyloidosis (AL) diagnosis.

Keywords: cardiac amyloidosis; hattr; hereditary transthyretin; i127v; neurologic amyloidosis; transthyretin amyloidosis.

Publication types

Case Reports