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Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
A rare presentation of pulmonary transthyretin amyloidosis
Marc Assaad1, Roshan Acharya1, Elspeth Springsted1
1Section of Pulmonary Critical Care and Sleep Medicine- Virginia Tech School of Medicine, Carilion Clinic Roanoke Memorial Hospital, USA.
Abstract:
Virchow described amyloidosis in 1853. Amyloidosis is the extracellular deposition of an insoluble misfolded polymerized tetramer of fibrillary protein that accumulates within tissues leading to organ dysfunction. Amyloidosis affects 10 people per one million every year. Specific varieties of amyloidosis result from diversely involved proteins. Tissue involvement can lead to multiorgan system dysfunction. Lung involvement from amyloidosis is very rare, and tissue biopsy is crucial for diagnosis. Genetic testing might be requested based on the suspected type. Lung involvement is very rare and mainly asymptomatic, and some cases are only diagnosed postmortem. When symptomatic, the clinical manifestations are nonspecific and include cough, dyspnea, and respiratory infections. The infiltrative process might affect pulmonary mechanics producing abnormal pulmonary function testing. Radiological manifestations of pulmonary amyloidosis involve the pleura, the tracheobronchial tree, the alveoli, and the mediastinal lymph nodes. Treatment of pulmonary amyloidosis is based on treating the underlying disease process. We present herein a case of 78-year-old male with senile cardiac amyloidosis, who presents to our clinic with multiple nodular pulmonary opacities.
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