Macroglossia – not always AL amyloidosis

Abstract

AL amyloidosis and transthyretin (ATTR) amyloidosis are the most frequent forms of systemic amyloidosis diagnosed in the United States. Macroglossia is considered to be a pathognomonic feature of AL amyloidosis. We report on two cases of systemic amyloidosis with macroglossia that defied routine clinical diagnosis, in which the deposits were typed as ATTR in one case and AL in the other using immunoelectron microscopy. These cases highlight: (1) the difficulty of typing amyloidosis on clinical criteria alone; (2) the utility of immunoelectron microscopy and (3) that macroglossia, while occurring much more frequently in AL, can also accompany ATTR amyloidosis.

Keywords:

• Macroglossia
• amyloidosis
• immunoglobulin light chain
• transthyretin
• immuno-electronmicroscopy

Acknowledgements

Authors gratefully acknowledge their colleagues in the Amyloid Treatment and Research Program and Solomont Center for Cancer and Blood Disorders at Boston University School of Medicine and Boston Medical Center who assisted with the multidisciplinary evaluation and treatment of the patients with amyloidosis. This work was supported in part by the Amyloid Research Fund at Boston University School of Medicine. Authors also thank Pam SooHoo for performing immunohistochemistry and immuno-electron microscopy.

Declaration of interest:

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.