DOI: 10.12890/2024_004286

A case of amyloid goitre in heavy chain amyloidosis: diagnostic challenges and clinical implications

Authors

  • Francisco Laranjeira Department of Internal Medicine, Hospital da Luz, Lisbon, Portugal
  • Bernardo Neves Department of Internal Medicine, Hospital da Luz, Lisbon, Portugal
  • Paulo Bernardo Department of Hematology, Hospital da Luz, Lisbon, Portugal
  • Francisco do Rosário Department of Endocrinology, Hospital da Luz, Lisbon, Portugal
  • Otília Fernandes Department of Radiology, Hospital da Luz, Lisbon, Portugal
  • Evelina Mendonça Department of Clinical Pathology, Hospital da Luz, Lisbon, Portugal
  • Ana Catarino Department of Clinical Pathology, Hospital da Luz, Lisbon, Portugal

francisco.soares.laranjeira@hospitaldaluz.pt

Keywords

Heavy chain amyloidosis, amyloid goiter, TRU-CUT biopsy, mass spectrometry

Abstract

Immunoglobulin heavy chain amyloidosis (AH amyloidosis) is an extremely rare subtype of immunoglobulin-derived amyloidosis and there is limited literature on how to diagnose and manage this disorder. We describe a rare case of AH amyloidosis with amyloid goitre and the importance of mass spectrometry in the identification of the different types of amyloids. While additional studies are needed, several observations suggest important practical implications, including differences in clinical picture, prognosis, and pathologic diagnosis.

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References

  1. Kyle RA, Gertz MA. Primary systemic amyloidosis: clinical and laboratory features in 474 cases. Semin Hematol 1995;32:45–59.
  2. Nasr SH, Said SM, Valeri AM, Sethi S, Fidler ME, Cornell LD, et al. The diagnosis and characteristics of renal heavy-chain and heavy/light-chain amyloidosis and their comparison with renal light-chain amyloidosis. Kidney Int 2013;83:463–470.
  3. Lari E, Burhamah W, Lari A, Alsafran S, Ismail A. Amyloid goiter – a rare case report and literature review. Ann Med Surg (Lond) 2020;57:295–298.
  4. Yildiz L, Kefeli M, Kose B, Baris S. Amyloid goiter: two cases and a review of the literature. Ann Saudi Med 2009;29:138–141.
  5. Sethi S, Theis JD, Leung N, Dispenzieri A, Nasr SH, Fidler ME, et al. Mass spectrometry-based proteomic diagnosis of renal immunoglobulin heavy chain amyloidosis. Clin J Am Soc Nephrol 2010;5:2180–2187.
  6. Chaulagain CP, Herlitz LC, Fu J, Bilani N, Lucitt C, Comenzo RL. How we manage systemic immunoglobulin heavy chain amyloidosis (AH amyloidosis) and immunoglobulin heavy-and-light-chain amyloidosis (AH/AL amyloidosis). Clin Lymphoma Myeloma Leuk 2020;20:e826–e831.
  7. Orrego JJ, Chorny JA. Amyloid goiter as the first recognizable manifestation of immunoglobulin light chain amyloidosis. AACE Clin Case Rep 2019;5:e326–e329.
  8. Coca-Pelaz A, Vivanco-Allende B, Alvarez-Marcos C, Suarez-Nieto C. Multifocal papillary thyroid carcinoma associated with primary amyloid goiter. Auris Nasus Larynx 2012;39:549–551.
  9. Shimamoto Y, Takahashi N, Katoh N, Matsui Y, Mochizuki Y, Ito M, et al. Light and heavy chain deposition disease with focal amyloid deposition diagnosed with mass spectrometry: a case report. BMC Nephrol 2023;24:187.
  10. Otaka Y, Nakazato Y, Tsutsui T, Tamura J. Cardiac involvement in heavy and light chain amyloidosis: a case report and literature review. Medicine (Baltimore) 2019;98:e17999.
  11. Kastritis E, Palladini G, Minnema MC, Wechalekar AD, Jaccard A, Lee HC, et al. Daratumumab-based treatment for immunoglobulin light-chain amyloidosis. N Engl J Med 2021;385:46–58.
  12. Wechalekar AD, Schonland SO, Kastritis E, Gillmore JD, Dimopoulos MA, Lane T, et al. A European collaborative study of treatment outcomes in 346 patients with cardiac stage III AL amyloidosis. Blood 2013;121:3420–3427.

Published

2024-03-04

Issue

Vol. 11 No. 3 (2024)

Categories

How to Cite

1.
Laranjeira F, Neves B, Bernardo P, do Rosário F, Fernandes O, Mendonça E, et al. A case of amyloid goitre in heavy chain amyloidosis: diagnostic challenges and clinical implications. EJCRIM [Internet]. 2024 Mar. 4 [cited 2026 Nov. 3];11(3). Available from: https://ejcrim.com/index.php/ejcrim/article/view/4286