{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,30]],"date-time":"2026-07-30T13:00:21Z","timestamp":1785416421212,"version":"3.56.0"},"reference-count":21,"publisher":"Vilnius University Press","issue":"2","license":[{"start":{"date-parts":[[2025,11,14]],"date-time":"2025-11-14T00:00:00Z","timestamp":1763078400000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["AML"],"abstract":"<jats:p>Heavy chain diseases (HCDs) are rare B-cell\/plasma cell disorders characterized by secretion of truncated immunoglobulin heavy chains without light chains. Pulmonary involvement has been described but is typically limited to interstitial or infiltrative patterns; whereas, cystic lung disease is exceptionally rare. We report a 23-year-old previously healthy male who presented with recurrent spontaneous pneumothoraces over a two-year period. High-resolution computed tomography revealed numerous bilateral thin-walled cysts with upper-lobe predominance, with several of these abutting the pleural surface. Laboratory evaluation demonstrated a discrete monoclonal spike on serum protein electrophoresis, and immunofixation confirmed an isolated IgG heavy chain without light chains, consistent with \u03b3-heavy chain disease (\u03b3-HCD). Bone marrow biopsy showed a mild increase in plasma cells (5\u201310%) without overt malignancy, and alternative causes of cystic lung disease, including Birt-Hogg-Dub\u00e9 syndrome, autoimmune disease, \u03b11-antitrypsin deficiency, and HIV, were excluded. This case highlights \u03b3-HCD as a rare cause of diffuse cystic lung disease with recurrent pneumothorax, expanding the pulmonary spectrum of heavy-chain dyscrasias. The radiographic overlap with light-chain deposition disease emphasizes the need to include monoclonal gammopathies in the differential diagnosis of unexplained cystic lung disease. Recognition of \u03b3-HCD in this context is clinically important, as it may precede lymphoproliferative malignancy and mandates careful longitudinal surveillance.<\/jats:p>","DOI":"10.15388\/amed.2025.32.2.15","type":"journal-article","created":{"date-parts":[[2025,11,14]],"date-time":"2025-11-14T05:19:05Z","timestamp":1763097545000},"page":"15","source":"Crossref","is-referenced-by-count":0,"title":["Heavy Chain Disease with Cystic Lung Disease Presenting as Recurrent Spontaneous Pneumothorax in a Young Adult"],"prefix":"10.15388","volume":"32","author":[{"given":"Konstantinos","family":"Dodos","sequence":"first","affiliation":[{"id":[{"id":"https:\/\/ror.org\/02j61yw88","id-type":"ROR","asserted-by":"publisher"}],"name":"Aristotle University of Thessaloniki"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tsampika Vasileia","family":"Kalamara","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/02j61yw88","id-type":"ROR","asserted-by":"publisher"}],"name":"Aristotle University of Thessaloniki"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vasiliki Epameinondas","family":"Georgakopoulou","sequence":"additional","affiliation":[{"name":"Laiko General Hospital"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"6097","published-online":{"date-parts":[[2025,11,14]]},"reference":[{"key":"ref0","doi-asserted-by":"publisher","unstructured":"Vergneault H, Genestier L, Jaccard A, Cogn\u00e9 M, Boyer-Clavel M. Light chain proteinuria revealing \u03bc-heavy chain disease. Haematologica. 2021;106(7):2013-2016. doi:10.3324\/haematol.2020.277137","DOI":"10.3324\/haematol.2020.277137"},{"key":"ref1","unstructured":"Berenson JR. Heavy Chain Diseases. In: MSD Manual Professional Version (reviewed August 2024; modified December 2024). https:\/\/www.msdmanuals.com\/professional\/hematology-and-oncology\/plasma-cell-disorders\/heavy-chain-diseases"},{"key":"ref2","doi-asserted-by":"publisher","unstructured":"Wahner-Roedler DL, Kyle RA. Heavy chain diseases. Best Pract Res Clin Haematol. 2005;18(4):729-746. doi:10.1016\/j.beha.2005.01.029","DOI":"10.1016\/j.beha.2005.01.029"},{"key":"ref3","doi-asserted-by":"publisher","unstructured":"Ramasamy I, Rudzki Z. Two Cases of \u03b3-Heavy Chain Disease and a Review of the Literature. 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J Clin Exp Hematop. 2019;59(4):196-201. doi:10.3960\/jslrt.19025","DOI":"10.3960\/jslrt.19025"},{"key":"ref7","doi-asserted-by":"publisher","unstructured":"Wei P, Tao R, Liu Y, Xie H, Jiang S, Yu D, Lu H, Cao W. Pulmonary light chain deposition disease: a case series and literature review. Ann Transl Med. 2020;8(9):588. doi:10.21037\/atm-20-2708","DOI":"10.21037\/atm-20-2708"},{"key":"ref8","doi-asserted-by":"publisher","unstructured":"Baqir M, Moua T, White D, Yi ES, Ryu JH. Pulmonary nodular and cystic light chain deposition disease: A retrospective review of 10 cases. Respir Med. 2020;164:105896. doi:10.1016\/j.rmed.2020.105896","DOI":"10.1016\/j.rmed.2020.105896"},{"key":"ref9","doi-asserted-by":"publisher","unstructured":"Wang Y, Chen D, Hu R, Zhang Y, Liang D, Xu F, et al. Clinicopathological Characteristics of Light and Heavy Chain Deposition Disease: A Case Series. 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Chest. 2025;167(2):529-547. doi:10.1016\/j.chest.2024.08.008","DOI":"10.1016\/j.chest.2024.08.008"},{"key":"ref13","doi-asserted-by":"publisher","unstructured":"Ha D, Yadav R, Mazzone PJ. Cystic lung disease: systematic, stepwise diagnosis. Cleve Clin J Med. 2015;82(2):115-127. doi:10.3949\/ccjm.82a.14020","DOI":"10.3949\/ccjm.82a.14020"},{"key":"ref14","doi-asserted-by":"publisher","unstructured":"Bieliauskas S, Tubbs RR, Bacon CM, Eshoa C, Foucar K, Gibson SE, et al. Gamma heavy-chain disease: defining the spectrum of associated lymphoproliferative disorders through analysis of 13 cases. Am J Surg Pathol. 2012;36(4):534-543. doi:10.1097\/PAS.0b013e318240590a","DOI":"10.1097\/PAS.0b013e318240590a"},{"key":"ref15","unstructured":"Bianchi G, Anderson KC, Harris NL, Sohani AR. The heavy chain diseases: clinical and pathologic features. Oncology (Williston Park). 2014;28(1):45-53."},{"key":"ref16","doi-asserted-by":"publisher","unstructured":"Shibata S, Fukunaga A. Gamma heavy chain disease complicated by pulmonary hypertension, which was successfully treated with lenalidomide. BMJ Case Rep. 2020;13(11):e236162. doi:10.1136\/bcr-2020-236162","DOI":"10.1136\/bcr-2020-236162"},{"key":"ref17","doi-asserted-by":"publisher","unstructured":"Colombat M, Stern M, Groussard O, Droz D, Brauner M, Valeyre D, et al. Pulmonary cystic disorder related to light chain deposition disease. Am J Respir Crit Care Med. 2006;173(7):777-780. doi:10.1164\/rccm.200510-1620CR","DOI":"10.1164\/rccm.200510-1620CR"},{"key":"ref18","doi-asserted-by":"publisher","unstructured":"Lestelle F, Beigelman C, Rotzinger D, Si-Mohamed S, Nasser M, Wemeau L, et al. Phenotypes and outcome of diffuse pulmonary non-amyloid light chain deposition disease. Respir Res. 2024;25(1):159. doi:10.1186\/s12931-024-02798-y","DOI":"10.1186\/s12931-024-02798-y"},{"key":"ref19","doi-asserted-by":"publisher","unstructured":"Colombat M, Caudroy S, Lagonotte E, Mal H, Danel C, Stern M, Fournier M, Birembaut P. Pathomechanisms of cyst formation in pulmonary light chain deposition disease. Eur Respir J. 2008;32(5):1399-1403. doi:10.1183\/09031936.00132007","DOI":"10.1183\/09031936.00132007"},{"key":"ref20","doi-asserted-by":"publisher","unstructured":"Cooley J, Lee YCG, Gupta N. Spontaneous pneumothorax in diffuse cystic lung diseases. 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