Middle-ear osteolytic transthyretin amyloidosis: A CARE case report - 18/09/24

Doi : 10.1016/j.anorl.2024.09.002

C. Maquet ^a,⁎ , A. Willemet ^a, A. Francois ^b, F. Crampon ^a, S. Deneuve ^a
^a Department of Otorhinolaryngology and Head and Neck Surgery, CHU de Rouen, 34, boulevard Gambetta, 76000 Rouen, France
^b Department of Anatomical Pathology, CHU de Rouen, 76000 Rouen, France

^⁎Corresponding author.

En prensa. Pruebas corregidas por el autor. Disponible en línea desde el Wednesday 18 September 2024

Abstract

Introduction

Wild-type transthyretin amyloidosis (ATTRwt) is a rare but serious disease that is underestimated due to asymptomatic progression. Cardiac deposits worsen prognosis, highlighting the importance of early detection for preventive treatment.

Case report

An elderly patient presented with an osteolytic lesion of the middle ear. Pathology diagnosed amyloid transthyretin deposits associated with cholesteatoma.

Discussion

Identifying reliable markers to screen for risk of cardiac amyloidosis is important, due to poor prognosis. Recent studies found higher prevalence of hearing loss in ATTRwt than in the general population. The present case identified the middle ear as a target of ATTR, which could improve our understanding of the pathophysiology.

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Keywords : Middle ear, Hearing loss, Transthyretin amyloidosis, Amyloid neuropathy