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

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.

Keywords

• heavy chain amyloidosis
• amyloid goiter
• tru-cut biopsy
• mass spectrometry