Tariq Manahil, Lunte Klara, Fleury Carole, Logeart Damien, Ballout Edouard, Siguret Virginie, Jourdi Georges
Hematopathology, Lariboisière, AP-HP.Nord (Assistance Publique-Hôpitaux de Paris), Paris, FRA.
Hematopathology, Avicenne, AP-HP.Nord (Assistance Publique-Hôpitaux de Paris), Paris, FRA.
Cureus. 2025 Apr 30;17(4):e83278. doi: 10.7759/cureus.83278. eCollection 2025 Apr.
Cardiac amyloidosis is a rare infiltrative disease caused by the deposition of extracellular insoluble aggregates of misfolded proteins. Most cardiac amyloidosis seen in the clinic is due to either amyloid light-chain (AL) of immunoglobulins or transthyretin accumulation in various cardiac structures. AL amyloidosis is most often secondary to a monoclonal gammopathy of undetermined significance (MGUS) or multiple myeloma. More rarely, it is associated with lymphoplasmacytic lymphoma, a low-grade, mature, B-cell non-Hodgkin lymphoma. Here, we present a rare case of cardiac AL amyloidosis caused by Waldenstrom macroglobulinemia in a 70-year-old man. The clinical and biological characteristics of the patient, as well as the mutational profile, are detailed and discussed. This case report sheds light on the rare association of AL amyloidosis and Waldenstrom macroglobulinemia. It underlines the importance of the multidisciplinary collaboration between cardiologists, hematologists, clinical pathologists, and amyloidosis specialists to overcome diagnostic challenges using specific key tools encompassing immunofixation electrophoresis, mass spectrometry, immunophenotyping, cardiac magnetic resonance imaging, and next-generation sequencing. All of the above lead to the establishment of an early and appropriate diagnosis of such a rare clinical association, thus optimizing patient management.
心脏淀粉样变性是一种罕见的浸润性疾病，由错误折叠蛋白的细胞外不溶性聚集体沉积引起。临床上所见的大多数心脏淀粉样变性是由于免疫球蛋白的淀粉样轻链（AL）或转甲状腺素蛋白在各种心脏结构中的积聚。AL淀粉样变性最常继发于意义未明的单克隆丙种球蛋白病（MGUS）或多发性骨髓瘤。更罕见的是，它与淋巴浆细胞淋巴瘤有关，这是一种低度、成熟的B细胞非霍奇金淋巴瘤。在此，我们报告一例70岁男性由华氏巨球蛋白血症引起的罕见心脏AL淀粉样变性病例。详细介绍并讨论了该患者的临床和生物学特征以及突变情况。本病例报告揭示了AL淀粉样变性与华氏巨球蛋白血症之间的罕见关联。它强调了心脏病专家、血液学家、临床病理学家和淀粉样变性专家之间多学科合作的重要性，以使用包括免疫固定电泳、质谱分析、免疫表型分析、心脏磁共振成像和下一代测序等特定关键工具来克服诊断挑战。上述所有措施有助于对这种罕见的临床关联建立早期且恰当的诊断，从而优化患者管理。
