Fan Jerry, Chukwu Michael, Sanford Corry B, Jebakumar Deborah, Quitoriano Nicholas, Nguyen Vinh
Division of Cardiology, Baylor Scott & White Medical Center, Temple, TX.
Department of Internal Medicine, Baylor Scott & White Medical Center, Temple, TX.
Ochsner J. 2024 Winter;24(4):284-287. doi: 10.31486/toj.23.0144.
Waldenström macroglobulinemia is a rare cancer of plasma cells characterized by the excessive production of immunoglobulin M (IgM). IgM-associated systemic amyloid light chain (AL) amyloidosis is a rare complication of Waldenström macroglobulinemia, characterized by the misfolding of lambda light chains that deposit in various organs, including the heart. We describe a case of progressive nonischemic cardiomyopathy secondary to Waldenström macroglobulinemia and IgM-associated AL amyloidosis that was refractory to medical therapy and highlight the challenges in diagnosis and management. A 64-year-old male with hypertension presented with symptoms of heart failure. Diagnostic workup revealed evidence of Waldenström macroglobulinemia and IgM-associated systemic AL amyloidosis affecting the heart. Further investigations confirmed the presence of Waldenström macroglobulinemia with lambda-restricted lymphoplasmacytic infiltrate in the bone marrow. Renal biopsy revealed amyloid nephropathy, and endomyocardial biopsy showed extensive deposits of fibrillary material consistent with cardiac amyloidosis. Because of the patient's advanced disease state and frailty, the decision was made to focus on comfort care with hospice. Waldenström macroglobulinemia-induced cardiac AL amyloidosis is a challenging clinical scenario characterized by the coexistence of 2 distinct hematologic disorders impacting cardiac function. Diagnosis requires a comprehensive evaluation, and management necessitates a multidisciplinary approach targeting both Waldenström macroglobulinemia and cardiac amyloidosis. Further research and collaboration are needed to improve diagnostic techniques, refine treatment approaches, and enhance patient outcomes for this rare and complex condition.
华氏巨球蛋白血症是一种罕见的浆细胞癌，其特征是免疫球蛋白M（IgM）过度产生。IgM相关的系统性轻链（AL）淀粉样变性是华氏巨球蛋白血症的一种罕见并发症，其特征是λ轻链错误折叠并沉积在包括心脏在内的各个器官中。我们描述了一例继发于华氏巨球蛋白血症和IgM相关AL淀粉样变性的进行性非缺血性心肌病病例，该病例对药物治疗无效，并强调了诊断和管理方面的挑战。一名64岁的高血压男性出现心力衰竭症状。诊断检查发现了华氏巨球蛋白血症和影响心脏的IgM相关系统性AL淀粉样变性的证据。进一步检查证实存在华氏巨球蛋白血症，骨髓中有λ限制的淋巴浆细胞浸润。肾活检显示淀粉样肾病，心内膜活检显示广泛的纤维状物质沉积，符合心脏淀粉样变性。由于患者病情晚期且身体虚弱，决定以临终关怀为主，重点关注舒适护理。华氏巨球蛋白血症引起的心脏AL淀粉样变性是一种具有挑战性的临床情况，其特征是两种不同的血液系统疾病同时存在并影响心脏功能。诊断需要全面评估，管理需要针对华氏巨球蛋白血症和心脏淀粉样变性的多学科方法。需要进一步的研究和合作来改进诊断技术、完善治疗方法，并改善这种罕见且复杂疾病的患者预后。
