Abstract: TH-PO1107
Dual Amyloid Deposition in a Patient on Long-Term Dialysis with Tongue Nodules and Bilateral Carpal Tunnel Syndrome
Session Information
- Pathology and Lab Medicine
October 22, 2026 | Location: Exhibit Hall A, Convention Center
Abstract Time: 10:00 AM - 12:00 PM
Category: Pathology and Lab Medicine
- 1700 Pathology and Lab Medicine
Authors
- Doan, Khanh Duy, Temple University, Philadelphia, Pennsylvania, United States
- Hassler, Jared, Temple University, Philadelphia, Pennsylvania, United States
- Kuklani, Riya, Temple University, Philadelphia, Pennsylvania, United States
Introduction
Amyloidosis comprises a group of disorders characterized by extracellular deposition of misfolded proteins, with clinical manifestations varying by subtype and organ involvement. In end-stage renal disease (ESRD), β2-microglobulin amyloidosis is a recognized complication of long-term dialysis, typically affecting osteoarticular structures. Coexistence of multiple amyloid subtypes in a single patient is rare and may complicate diagnosis and management.
Case Description
A 63-year-old woman with ESRD on hemodialysis for 10 years presented with progressive tongue nodules and a history of bilateral carpal tunnel syndrome. Examination revealed multiple firm nodular lesions on the tongue. Biopsy demonstrated amyloid deposition, and subtyping (mass spect) identified two distinct proteins: β2-microglobulin and apolipoprotein A-IV. Given concern for systemic involvement, evaluation for cardiac amyloidosis was pursued. Transthoracic echocardiography showed findings suspicious for infiltrative cardiomyopathy; however, tissue confirmation was not obtained. Genetic testing for transthyretin (TTR) mutations was negative.
Discussion
This case illustrates dual amyloid deposition in a patient with long-standing dialysis. β2-microglobulin amyloidosis is associated with prolonged dialysis and commonly presents with musculoskeletal manifestations such as carpal tunnel syndrome, whereas apolipoprotein A-IV amyloidosis is less frequently recognized and may involve visceral organs. Tongue involvement is uncommon and suggests systemic disease. The presence of multiple amyloid subtypes highlights the importance of accurate amyloid typing using advanced techniques, as management and prognosis differ by subtype. Additionally, evaluation for cardiac involvement is essential, though diagnosis may remain challenging without histologic confirmation. This case underscores the need to consider mixed amyloidosis in dialysis patients presenting with atypical features.