Giant tongue leading to dysphagia in light chain amyloidosis patient
DOI:
https://doi.org/10.5281/zenodo.10064470Keywords:
Congo Red, Amyloidosis, MacroglossiaAbstract
Introduction: Macroglossia as a clinical manifestation of systemic amyloidosis is a rare condition, occurring in less than 9% of all types of amyloidosis. The aim of this report is to present the diagnostic approach of a patient with macroglossia, providing a systematic approach and considering relevant diagnostic possibilities during their evaluation.
Clinical case: We present the case of a 60-year-old man who presented with a progressively enlarging giant tongue for six months, causing dysphagia and reduced oral opening. A tongue biopsy was taken, which histopathologically exhibited homogenous eosinophilic amyloid-like material. Congo red staining showed amyloid material with red dye under light microscopy and apple-green birefringence under polarized light. Bone marrow biopsy showed 30% plasma cells, allowing for a definitive diagnosis of soft tissue amyloidosis. Although it is a benign lesion, localized amyloidosis should be differentiated from systemic forms.
Conclusions: The approach of patients with macroglossia is complex due to the diagnostic possibilities, from endo-crinological causes, neoplastic, and even by deposit; Being an isolated sign in a patient is a challenge in its approach, because the involvement of the airway is the main complication to avoid in these patients.
Downloads
References
Muniyan S, Nair Sreela LS, Mathew P, et al. Macroglossia Associated With Primary Systemic Amyloidosis - Case Report With Unusual Clinical Presentation. J Ayub Med Coll Abbottabad. 2022;34(1):197-9. doi: 10.55519/JAMC-01-9317.
Merlini G, Seldin DC, Gertz MA. Amyloidosis: Pathogenesis And New Therapeutic Options. J Clin Oncol. 2011;29(14):1924-33. doi: 10.1200/JCO.2010.32.2271.
Muchtar E, Gertz MA, Kyle RA, et al. A Modern Primer on Light Chain Amyloidosis in 592 Patients With Mass Spectrometry-Verified Typing. Mayo Clin Proc. 2019;94(3):472-83.
doi: 10.1016/j.mayocp.2018.08.024.
Shahbaz A, Aziz K, Umair M, et al. Amyloidosis Presenting with Macroglossia. Cureus. 2018;10(8):1-4. doi:10.7759/cureus.3185.
Ehman EC, El-Sady MS, Kijewski MF, et al. Early Detection of Multiorgan Light-Chain Amyloidosis by Whole-Body 18F-Florbetapir PET/CT. J Nucl Med. 2019;60(9):1234-9. doi: 10.2967/jnumed.118.221770.
Maturana-Ramírez A, Ortega AV, Labbé FC, et al. Macroglossia, the first manifestation of systemic amyloidosis associated with multiple myeloma: Case report. J Stomatol Oral Maxillofac Surg. 2018;119(6):514-7. doi: 10.1016/j.jormas.2018.06.009.
Oruba Z, Kaczmarzyk T, Urbańczyk K, et al. Intraoral manifestation of systemic AL amyloidosis with unique microscopic presentation of intracellular amyloid deposition in striated muscles. Pol J Pathol. 2018;69(2):200-4. doi: 10.5114/pjp.2018.76705.
Takumi K, Staziaki PV, Hito R, et al. Amyloidosis in the head and neck: CT findings with clinicopathological correlation. Eur J Radiol. 2020;128:1-8. doi:10.1016/j.ejrad.2020.109034.
Picciani B, Gornic C, Cunha KS, et al. Lingual amyloidosis associated to long-term hemodialysis: Two case reports. Spec Care Dentist. 2018;38(4):434-8. doi: 10.1111/scd.12320.
Vaxman I, Gertz M. When to Suspect a Diagnosis of Amyloidosis. Acta Haematol. 2020;143(4):304-11. doi: 10.1159/000506617.
Skinner M, Anderson JJ, Simms R, et al. Treatment of patients with primary amyloidosis: a randomized trial of melphalan, prednisone, and colchicine versus colchicine only. Am J Med. 1996;100(3):290-8. doi: 10.1016/S0002-9343(97)89450-8.
Cherico AS, Rizvi A, Jayakrishnan T, et al. Macroglossia as the initial presentation of AL amyloidosis: review and updates in treatment. BMJ Case Rep. 2022;15(7):1-4. doi: 10.1136/bcr-2022-249737.
Send T, Spiegel JL, Schade G, et al. Amyloidosis of the Upper Aerodigestive Tract: Management of a Rare Disease and Review of the Literature. Dysphagia. 2019;34(2):179-91. doi:10.1007/s00455-018-9956-x.
Adamo D, Gasparro R, Marenzi G, et al. Amyloidoma of the Tongue: Case Report, Surgical Management, and Review of the Literature. J Oral Maxillofac Surg. 2020;78(9):1572-82. doi: 10.1016/j.joms.2020.04.022.
Yamasaki Y, Mukaino A, Yamashita S, et al. Macroglossia in rapidly progressive inclusion body myositis. Neuropathology. 2023;43(3):252-6. doi: 10.1111/neup.12879.
Picciani B, Gornic C, Cunha KS, et al. Lingual amyloidosis associated to long-term hemodialysis: Two case reports. Spec Care Dentist. 2018;38(6):434-7. doi: 10.1111/scd.12331.
Ihne S, Morbach C, Sommer C, et al. Amyloidosis-the Diagnosis and Treatment of an Underdiagnosed Disease. Dtsch Arztebl Int. 2020;117(10):159-66. doi: 10.3238/arztebl.2020.0159.
Ryšavá R. AL amyloidosis: advances in diagnostics and treatment. Nephrol Dial Transplant. 2019;34(9):1460-6. doi: 10.1093/ndt/gfy291.
Gertz MA. Immunoglobulin light chain amyloidosis: 2022 update on diagnosis, prognosis, and treatment. Am J Hematol. 2022;97(6):818-29. doi: 10.1002/ajh.26569.
Palladini G, Milani P, Merlini G. Management of AL amyloidosis in 2020. Hematology Am Soc Hematol Educ Program. 2020; 2020(1):363-71. doi: 10.1182/hematology.2020006913.
Downloads
Published
Issue
Section
License
Copyright (c) 2023 Revista Médica del Instituto Mexicano del Seguro Social
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.
Authors retain their copyright and grant the Revista Médica del IMSS the right of first publication. Articles are distributed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License, which allows sharing as long as the author and the original source are properly credited.
