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

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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    Published: 2024-03-04
    Issue: 2024: Vol 11 No 3 (view)

    How to cite:
    1.
    Laranjeira F, Neves B, Bernardo P, do Rosário F, Fernandes O, Mendonça E, Catarino A. A case of amyloid goitre in heavy chain amyloidosis: diagnostic challenges and clinical implications. EJCRIM 2024;11 doi:10.12890/2024_004286.