Transbronchial cryobiopsy proven amyloid diffuse cystic lung disease complicating a transthyretin mutated (ATTRm) amyloidosis: a case report

We present a case report of transbronchial cryobiopsy proven diffuse amyloid cystic lung disease complicating a homozygous Val122Ile (V122I) transthyretin mutated amyloidosis (ATTRm). To the best of our knowledge, this is the first case in the literature reporting such pulmonary lesions in ATTRm amyloidosis, and notably diagnosed through cryobiopsy. A 51-year-old man from Mali with a past medical history of bilateral carpal tunnel syndrome presented erectile dysfunction, asthenia and worsening dyspnoea over the past year. He presented signs of cardiac failure; histological and radiological investigations diagnosed cardiac amyloidosis. He was found homozygote for the V122I mutation in transthyretin. A diffuse cystic lung disease (DCLD) was noted on computed tomography (CT) scan. We performed a transbronchial pulmonary cryobiopsy that revealed histological transthyretin amyloid deposits. This case report illustrates the safety and usefulness of cryobiopsy in the setting of DCLD and extends ATTRm amyloidosis as a possible cause of DCLD.

[1]  Kotaro Sakamoto,et al.  Pulmonary amyloidosis diagnosed via transbronchial lung cryobiopsy without surgical lung biopsy: A case series , 2022, Respiratory medicine case reports.

[2]  T. Hartman,et al.  Clinical, radiologic, and pathologic features and outcomes of pulmonary transthyretin amyloidosis. , 2022, Respiratory medicine.

[3]  M. Wahidi,et al.  Comparison of Forceps, Cryoprobe, and Thoracoscopic Lung Biopsy for the Diagnosis of Interstitial Lung Disease − The CHILL Study , 2021, Respiration.

[4]  J. Ryu,et al.  Emphysematous Lung Lesions Caused by Perivascular and Alveolar-Septal Deposition of Amyloid Light-Chain Amyloidosis. , 2021, Chest.

[5]  Weihong Zhang,et al.  The etiology of diffuse cystic lung diseases: an analysis of 1010 consecutive cases in a LAM clinic , 2021, Orphanet Journal of Rare Diseases.

[6]  S. Züchner,et al.  Targeting transthyretin ‐ Mechanism‐based treatment approaches and future perspectives in hereditary amyloidosis , 2020, Journal of neurochemistry.

[7]  G. Raghu,et al.  Diagnostic accuracy of transbronchial lung cryobiopsy for interstitial lung disease diagnosis (COLDICE): a prospective, comparative study. , 2020, The Lancet. Respiratory medicine.

[8]  S. Nava,et al.  Poor Concordance between Sequential Transbronchial Lung Cryobiopsy and Surgical Lung Biopsy in the Diagnosis of Diffuse Interstitial Lung Diseases. , 2019, American journal of respiratory and critical care medicine.

[9]  A. Warth,et al.  Transbronchial Cryobiopsies for Diagnosing Interstitial Lung Disease: Real-Life Experience from a Tertiary Referral Center for Interstitial Lung Disease , 2018, Respiration.

[10]  M. Kitaichi,et al.  Efficacy and safety of transbronchial lung biopsy for the diagnosis of lymphangioleiomyomatosis: A report of 24 consecutive patients , 2018, Respirology.

[11]  J. Ryu,et al.  Transbronchial Cryobiopsy in Diffuse Parenchymal Lung Disease: Retrospective Analysis of 74 Cases , 2017, Chest.

[12]  Giampaolo Merlini,et al.  Amyloid fibril proteins and amyloidosis: chemical identification and clinical classification International Society of Amyloidosis 2016 Nomenclature Guidelines , 2016, Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis.

[13]  R. Hubbard,et al.  In-Hospital Mortality after Surgical Lung Biopsy for Interstitial Lung Disease in the United States. 2000 to 2011. , 2016, American journal of respiratory and critical care medicine.

[14]  A. Sykes,et al.  Amyloid-associated Cystic Lung Disease. , 2016, Chest.

[15]  C. la Vecchia,et al.  Safety and Diagnostic Yield of Transbronchial Lung Cryobiopsy in Diffuse Parenchymal Lung Diseases: A Comparative Study versus Video-Assisted Thoracoscopic Lung Biopsy and a Systematic Review of the Literature , 2016, Respiration.

[16]  S. Frusconi,et al.  The Val142Ile transthyretin cardiac amyloidosis: not only an Afro-American pathogenic variant? A single-centre Italian experience , 2016, Journal of cardiovascular medicine.

[17]  F. Salvi,et al.  Transthyretin-related amyloidoses and the heart: a clinical overview , 2010, Nature Reviews Cardiology.

[18]  Nomenclature Guidelines , 2006 .

[19]  Y. Ando,et al.  Aging and transthyretin-related amyloidosis: Pathologic examinations in pulmonary amyloidosis , 2006, Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis.

[20]  M. Benson,et al.  A prospective evaluation of the transthyretin Ile122 allele frequency in an African-American population , 2005, Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis.

[21]  Giampaolo Merlini,et al.  Molecular mechanisms of amyloidosis. , 2003, The New England journal of medicine.

[22]  P. Thompson,et al.  Amyloid and the lower respiratory tract. , 1983, Thorax.

[23]  D. Sanders,et al.  Intrathoracic manifestations of amyloid disease. , 1976, Radiology.

[24]  E. Boerwinkle,et al.  The amyloidogenic V122I transthyretin variant in elderly black Americans. , 2015, The New England journal of medicine.

[25]  H. Reddi,et al.  Homozygosity for the V122I mutation in transthyretin is associated with earlier onset of cardiac amyloidosis in the African American population in the seventh decade of life. , 2014, The Journal of molecular diagnostics : JMD.