Macroglossia and edema—what do you suspect

July 25, 2018

Figure 1 Quiz of the Week

A 65-year-old male presents to his family physician with complaints of increasing fatigue, dyspnea on exertion, and unintentional weight loss within the last six months. On examination, he is noted to have macroglossia and peripheral edema. Crackles are audible bilaterally on chest auscultation.

Which of the following tests will help to confirm this patient’s most likely diagnosis?

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Image credit: @nikhilchadha.


Answer: Bone marrow biopsy

This patient’s presentation is suggestive of primary amyloidosis, a rare systemic disorder in which abnormal protein material (amyloid) accumulates in the tissues and organs. The condition should be suspected in patients presenting with a combination of macroglossia and exertional dyspnea, or other unexplained clinical features such as edema, facial or neck purpura, congestive heart failure, non-diabetic nephrotic range proteinuria, hepatosplenomegaly, or carpal tunnel syndrome. Confirmation of primary amyloidosis can be made with bone marrow or tissue biopsy.

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