Related Experiment Video
Updated: Sep 4, 2025

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
Wild-type Transthyretin Amyloidosis with Diffuse Alveolar-septal Amyloidosis Diagnosed by a Transbronchial Lung
Masaki Ishida1, Masamitsu Enomoto2, Tae Hata2
1Pulmonary Medicine, University Hospital, Kyoto Prefectural University of Medicine, Japan.
Abstract:
A 69-year-old man visited our pulmonary medicine department for dyspnea. Chest computed tomography (CT) revealed ground-glass opacity bilaterally in the lungs. Upon performing a transbronchial lung biopsy (TBLB), organizing pneumonia was diagnosed. His electrocardiogram revealed low voltage, and the cardiac ultrasound revealed hypertrophy of the interventricular septum. The patient had bilateral carpal tunnel syndrome, and amyloidosis was suspected. Congo red stain was added to the lung biopsy specimen. Amyloid deposition of transthyretin (ATTR) was positive, mutations with amino acid changes were not observed in the TTR gene. Wild-type ATTR Amyloidosis (ATTRwt amyloidosis) was diagnosed using a TBLB. Chest CT after treatment with steroids revealed diffuse alveolar-septal amyloidosis.

