Du Fang, Guilan Ai, Zhou Lingyun, Liu Danbo, Chen Jiao, Xiang Hongxian, Lu Wenyi, Liu Jiewen, Luo Yanping, Chen Haifei
Department of Hematology, Luohu People's Hospital of Shenzhen, Shenzhen, Guangdong 518005, P.R. China.
Department of Pathology, Luohu People's Hospital of Shenzhen, Shenzhen, Guangdong 518005, P.R. China.
Exp Ther Med. 2025 Aug 13;30(4):198. doi: 10.3892/etm.2025.12948. eCollection 2025 Oct.
Cardiac light chain amyloidosis (AL) secondary to Waldenström's macroglobulinemia (WM) presents a complex challenge in medical practice due to its rarity and diagnostic difficulty. A 67-year-old male presented with symptoms of heart failure and was diagnosed with cardiac AL amyloidosis secondary to WM. The diagnosis of WM was confirmed through a combination of immunoglobulin (Ig) profile with abnormal IgM levels, bone marrow morphology, immunofixation electrophoresis, serum protein electrophoresis and gene mutation analysis. Cardiac amyloidosis was identified through cardiac echocardiography and confirmed through positive Congo red staining of bone marrow and apple green color transformation of an abdominal fat biopsy. The amyloid protein mass spectrometry indicated that the type of cardiac involvement was AL amyloidosis. The patient responded positively to the BR and BRD chemotherapy regimens but only showed a partial response (PR). In conclusion, a patient with WM-AL amyloidosis was diagnosed based on the presence of abnormal IgM paraprotein levels and the high Igλ C2 peak in the amyloid protein mass spectrometry. The BR (0.15 g bendamustine on days 2-3, 0.6 g rituximab on day 1) and BRD (2 mg bortezomib once a week for 4 weeks, 0.5 g rituximab on day 1 and 10 mg dexamethasone once a week for 4 weeks) chemotherapy regimens only achieved a partial response due to the existing irreversible organ impairment of the heart with chronic heart failure. The diagnosis of WM combined with cardiac AL amyloidosis is a challenge, and thus, it is necessary to improve clinical vigilance and early detection. Therapeutic strategies tailored to the individual patient's clinical profile are essential for optimizing outcomes, given the limited consolidated treatment evidence available for this rare condition.
继发于华氏巨球蛋白血症(WM)的心脏轻链淀粉样变性(AL)因其罕见性和诊断困难,在医学实践中构成了复杂的挑战。一名67岁男性因心力衰竭症状就诊,被诊断为继发于WM的心脏AL淀粉样变性。通过免疫球蛋白(Ig)谱结合异常IgM水平、骨髓形态学、免疫固定电泳、血清蛋白电泳和基因突变分析确诊为WM。通过心脏超声心动图确定心脏淀粉样变性,并通过骨髓刚果红染色阳性和腹部脂肪活检苹果绿颜色转变得以证实。淀粉样蛋白质谱分析表明心脏受累类型为AL淀粉样变性。患者对BR和BRD化疗方案反应良好,但仅表现出部分缓解(PR)。总之,一名WM-AL淀粉样变性患者基于异常IgM副蛋白水平的存在以及淀粉样蛋白质谱中高Igλ C2峰得以确诊。由于存在慢性心力衰竭导致的心脏不可逆器官损害,BR(第2 - 3天使用0.15 g苯达莫司汀,第1天使用0.6 g利妥昔单抗)和BRD(每周一次2 mg硼替佐米,共4周,第1天使用0.5 g利妥昔单抗,每周一次10 mg地塞米松,共4周)化疗方案仅取得部分缓解。WM合并心脏AL淀粉样变性的诊断具有挑战性,因此有必要提高临床警惕性并早期发现。鉴于针对这种罕见疾病的综合治疗证据有限,根据个体患者的临床特征制定治疗策略对于优化治疗结果至关重要。