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Updated: Jul 7, 2026

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
Middle-ear osteolytic transthyretin amyloidosis: A CARE case report
C Maquet1, A Willemet1, A Francois2
1Department of Otorhinolaryngology and Head and Neck Surgery, CHU de Rouen, 34, boulevard Gambetta, 76000 Rouen, France.
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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