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Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
Diffuse Alveolar Septal Amyloidosis With Wild-Type Transthyretin With Spontaneous Lung Hematoma
Emiko Tomita1, Shohei Matsuo2, Yoshitane Tsukamoto2
1Department of General Thoracic Surgery, Takarazuka City Hospital, Takarazuka, Japan.
Abstract:
We experienced a mass formation in the right lower lobe in a patient with cardiac amyloidosis and heart failure. Radiologic findings of the chest showed no abnormality except a mass. The patient had non-valvular atrial fibrillation and was taking edoxaban. Surgical resection of the mass revealed a hematoma. Further pathologic evaluation revealed diffuse alveolar septal amyloidosis with transthyretin (ATTR). The genetic testing found no mutation in the TTR gene. Therefore, systemic wild-type TTR amyloidosis (ATTRwt) was confirmed. Alveolar septal ATTRwt is rare and patient had alveolar septal ATTRwt with spontaneous lung hematoma.
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