Amyloid Light Chain Amyloidosis Masquerading as Scleroderma: A Diagnostic Challenge

Abstract

Systemic amyloidosis has diverse, often nonspecific, clinical manifestations that overlap or mimic other medical disorders, making amyloidosis a diagnostic challenge. We present a case of a middle-aged female who presented with skin thickening, fatigue, arthritis, and macroglossia, which were initially thought to be due to systemic sclerosis. With no response to immunosuppressive therapies, she was tested for plasma cell dyscrasias. Additional work-up and cardiac biopsy were positive for amyloid light chain (AL) amyloidosis. The diagnosis was delayed by 2 years because the protein electrophoresis ordered at the initial encounter was not accompanied by serum-free light chain testing. This case emphasizes the importance of considering amyloidosis in patients with unexplained systemic symptoms and highlights the role of a comprehensive diagnostic evaluation.