In Therapeutic Advances in Respiratory Disease, researchers presented the case of a patient with hereditary transthyretin amyloidosis (hATTR) who was found, via transbronchial cryobiopsy, to have amyloid diffuse cystic lung disease via transbronchial cryobiopsy

A 51-year-old man presented with dyspnea and asthenia that worsened over the past year. His past medical history included obesity, bilateral carpal tunnel syndrome that had been treated, hypertension, chronic glaucoma, diverticulosis, quiescent chronic B hepatitis, and erectile dysfunction. He was also a former smoker. 

Upon admission, he had a high respiratory rate (28 breaths/min) and hypertension (149/105 mm Hg). A physical examination demonstrated findings compatible with pleural syndrome. A nasopharyngeal PCR test was positive for COVID-19. He had elevated cardiac troponin (97.90 ng/L) and type-B brain natriuretic peptide (650 ng/L). Blood investigations revealed mild liver dysfunction without cholestasis. 

A thoracic computed tomography (CT) scan showed bilateral pleural effusion with disseminated cystic lesions scattered bilaterally at the peri-broncho-vascular region. His pleural fluid was analyzed and found to have a transudative profile. Echocardiogram revealed moderate biventricular concentric hypertrophy; the maximal thickness of the septum was 15 mm. The left atria was estimated to be 34 m2; left ventricular ejection fraction was around 38%. 

Read more about hATTR etiology 

Genetic testing revealed that the TTR gene had a homozygote V122I (pVal142lle) mutation. The patient’s physicians performed pulmonary transbronchial cryobiopsies that revealed diffuse TTR-stained amyloid deposits within the alveolar wall and adjacent to the capillaries. 

As a consequence, the patient was started on tafamidis and continues to be on cardiology, neurology, and pneumology follow-up. 

The patient in this study demonstrated pulmonary amyloidosis, which is extremely rare. Lung involvement can present as an array of pathologies, such as tracheobronchial infiltration, nodules, or a mass. In the case of this patient, lung biopsy was necessary to establish the presence of interstitial lung disease. 

“Our case supports that hATTR can be suspected with a diffuse cystic pulmonary radiological pattern,” the authors concluded.


Gaultier S, Puscas T, Pastre J, et al. Transbronchial cryobiopsy proven amyloid diffuse cystic lung disease complicating a transthyretin mutated (ATTRm) amyloidosis: a case report. Ther Adv Respir Dis. Published online June 17, 2023. doi: