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

Q4 Medicine

Journal of Cardiology Cases Pub Date : 2025-06-01 DOI:10.1016/j.jccase.2025.03.006

Haruhiko Higashi MD, PhD , Yukihiro Miyazaki MD, PhD , Mitsuharu Ueda MD, PhD , Shunsuke Tamaki MD, PhD , Kazuhisa Nishimura MD, PhD , Katsuji Inoue MD, PhD, FJCC , Shuntaro Ikeda MD, PhD, FJCC , Osamu Yamaguchi MD, PhD, FJCC

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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.

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偶发性急性胆囊炎作为AL型心脏淀粉样变诊断的途径

淀粉样蛋白轻链（AL）淀粉样变性的特点是淀粉样蛋白原纤维沉积在各个器官，尽管累及胆囊是罕见的。我们报告了一位62岁的女性患者，最初诊断为心力衰竭并保留射血分数（HFpEF），在她的HFpEF评估期间偶然发展为急性胆囊炎。胆囊切除术后，在切除的胆囊中发现淀粉样蛋白沉积。随后的调查通过影像学、骨髓分析和m蛋白检测证实了心脏淀粉样变，从而诊断为AL λ淀粉样变与多发性骨髓瘤相关。病人对化疗反应良好。本病例强调了考虑胆囊淀粉样变的重要性，这可能有助于避免不必要的活检，并促进淀粉样变的及时诊断和治疗。学习目的胆囊淀粉样变性是一种罕见的疾病。然而，认识到胆囊可能是淀粉样蛋白沉积的一个部位在心脏淀粉样变性的治疗中是至关重要的。这种意识可以帮助临床医生通过考虑胆囊作为诊断组织的潜在来源来避免不必要的活组织检查。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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