Incidental acute cholecystitis as a gateway to the diagnosis of AL cardiac amyloidosis

Key Information
Year
2025
summary/abstract

Abstract

Amyloid light-chain (AL) amyloidosis is characterized by the deposition of amyloid fibrils in various organs, although gallbladder involvement is rare. We present the case of a 62-year-old female patient initially diagnosed with heart failure with preserved ejection fraction (HFpEF), who incidentally developed acute cholecystitis during her evaluation for HFpEF. Following a cholecystectomy, amyloid deposits were identified in the resected gallbladder. Subsequent investigations confirmed cardiac amyloidosis through imaging, bone marrow analysis, and M-protein detection, leading to a diagnosis of AL λ amyloidosis associated with multiple myeloma. The patient favorably responded to chemotherapy. This case emphasizes the importance of considering gallbladder amyloidosis, which may aid in avoiding unnecessary biopsies and facilitate timely diagnosis and treatment of amyloidosis.

Learning objective

Gallbladder amyloidosis is rare. However, recognizing that the gallbladder may be a site of amyloid deposition is crucial in cardiac amyloidosis management. This awareness can help clinicians avoid unnecessary biopsies by considering the gallbladder as a potential source of diagnostic tissue.
 

Introduction

Amyloid light-chain (AL) amyloidosis is a condition characterized by the deposition of amyloid fibrils derived from immunoglobulin light chains in various organs, leading to functional impairment. AL amyloidosis may present as a primary condition or as a secondary complication of multiple myeloma. The heart, kidneys, liver, gastrointestinal tract, and nervous system are the primary organs. However, gallbladder amyloidosis is exceedingly rare.
Authors
Haruhiko Higashi MD, PhD a, Yukihiro Miyazaki MD, PhD b, Mitsuharu Ueda MD, PhD c, Shunsuke Tamaki MD, PhD a, Kazuhisa Nishimura MD, PhD a, Katsuji Inoue MD, PhD, FJCC a, Shuntaro Ikeda MD, PhD, FJCC a, Osamu Yamaguchi MD, PhD, FJCC