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Macroglossia as the initial presentation of AL amyloidosis: review and updates in treatment
  1. Adriani Samuel Cherico1,
  2. Ali Rizvi1,
  3. Thejus Jayakrishnan1,2 and
  4. Prerna Mewawalla3
  1. 1Internal Medicine, Allegheny General Hospital - Western Pennsylvania Hospital Medical Education Consortium, Pittsburgh, Pennsylvania, USA
  2. 2Hematology and Medical Oncology, Cleveland Clinic, Cleveland, Ohio, USA
  3. 3Division of Hematology and Cellular Therapy, AHN Cancer Center, Allegheny Health Network, Pittsburgh, Pennsylvania, USA
  1. Correspondence to Dr Adriani Samuel Cherico; adriani.cherico{at}ahn.org

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.

  • Haematology (drugs and medicines)
  • Haematology (incl blood transfusion)
  • Malignant and Benign haematology
  • Otolaryngology / ENT

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Footnotes

  • Contributors ASC provided the majority of contribution, with extensive editing, organisation and research review on the topic and the patient. AR and PM provided more indepth analysis of the case of the patient itself. TJ provided editing tips and knowledge on up-and-coming treatments and advancements in the particular disease field discussed. All contributors helped provide final edits and agree with the final submission.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.