Macroglossia as the initial presentation of AL amyloidosis: review and updates in treatment

BMJ Case Rep. 2022 Jul 11;15(7):e249737. doi: 10.1136/bcr-2022-249737.

Abstract

We encountered a man in his 60s presenting with worsening macroglossia. The patient underwent extensive otolaryngology evaluation and was diagnosed with primary (AL) amyloidosis on tongue biopsy with Congo red stain. The patient then underwent a bone marrow biopsy and was also found to have concurrent multiple myeloma. He started induction therapy with daratumumab and CyBorD (cyclophosphamide, bortezomib, dexamethasone). Cardiac MRI revealed extensive cardiac amyloidosis and the patient was deemed high risk for autologous stem cell transplant (auto-HCT). Unfortunately, the patient underwent hospitalisation for heart failure exacerbation requiring extensive medical management and passed away as a result of this pathology. AL amyloidosis is a rare disease to begin with and macroglossia as the only presenting sign is notable. This case emphasises the importance of considering AL amyloidosis in patients presenting with similar complaints as macroglossia can be attributed to other less serious aetiologies.

Keywords: Haematology (drugs and medicines); Haematology (incl blood transfusion); Malignant and Benign haematology; Otolaryngology / ENT.

Publication types

  • Case Reports

MeSH terms

  • Amyloidosis* / complications
  • Amyloidosis* / diagnosis
  • Amyloidosis* / therapy
  • Humans
  • Immunoglobulin Light-chain Amyloidosis* / complications
  • Immunoglobulin Light-chain Amyloidosis* / diagnosis
  • Immunoglobulin Light-chain Amyloidosis* / therapy
  • Macroglossia* / congenital
  • Macroglossia* / etiology
  • Male
  • Multiple Myeloma* / complications
  • Multiple Myeloma* / diagnosis
  • Multiple Myeloma* / therapy

Supplementary concepts

  • Congenital macroglossia