BACKGROUND Immunoglobulin light chain(AL)amyloidosis is a rare disease characterized by deposition of ALs essentially in any organ or tissue,with cardiac involvement being very frequent(61%).Early diagnosis is of high...BACKGROUND Immunoglobulin light chain(AL)amyloidosis is a rare disease characterized by deposition of ALs essentially in any organ or tissue,with cardiac involvement being very frequent(61%).Early diagnosis is of high importance because early initiation of treatment in AL amyloidosis may improve outcomes.Despite the administration of immunotherapeutic agents,in particular bortezomib and daratumumab,which have improved the outcomes of AL amyloidosis,antiplasma cell therapy remains suboptimal for some patients.CASE SUMMARY We report the case of a 55-year-old man presenting with heart failure who was diagnosed with cardiac AL amyloidosis by an endomyocardial biopsy.He experienced a short-term hematological remission with no organ response after being administered a bortezomib-daratumumab containing regimen.The treatment was switched to pomolidomide due to pulmonary involvement and progressive pleural effusion,in which flow cytometry analysis showed abnormal plasma cells.After two cycles of this regimen,the pleural effusion was controlled effectively with no recurrence.CONCLUSION This case emphasizes the crucial role of endomyocardial biopsy in early diagnosis of cardiac amyloidosis and suggests that pomolidomide may be an effective treatment for patients with AL amyloidosis that is relapsed/refractory to both bortezomib and daratumumab.展开更多
目的：探讨血清免疫固定电泳（IFE）、蛋白电泳（SPE）和免疫球蛋白定量在多发性骨髓瘤（MM）诊断中的作用。方法选择2012年6月～2013年12月北京积水潭医院符合 MM 诊断标准的 MM 患者192例为研究对象，选择同期健康体检者30例为对照组...目的：探讨血清免疫固定电泳（IFE）、蛋白电泳（SPE）和免疫球蛋白定量在多发性骨髓瘤（MM）诊断中的作用。方法选择2012年6月～2013年12月北京积水潭医院符合 MM 诊断标准的 MM 患者192例为研究对象，选择同期健康体检者30例为对照组，对 MM 患者进行免疫固定电泳、血清蛋白电泳和免疫球蛋白及轻链定量检测并对结果进行分析。结果192例 MM 患者有120例血清蛋白电泳检出 M 带，检出率为62.5％；免疫固定电泳174例检出 M 带，检出率为90.6％；分型结果显示以 IgG 型最多（106例，55.2％），其中 IgG-λ型66例（34.4％）；IgA 型次之（36例，18.8％），轻链型最低（24例，12.5％）。免疫球蛋白、轻链定量测定结果显示，在各型 MM 患者血清中出现相应免疫球蛋白及轻链的变化，与正常对照组比较差异具有统计学意义（P ＜0.05），检出率为67.7％（130／192）。无论是κ型还是λ型 M 蛋白，κ／λ比值均具有明显差异（P ＜0.05），检出率为85.4％（164／192）。结论免疫固定电泳、免疫球蛋白及轻链定量、κ／λ比值测定等免疫学检测在 MM 诊断中有较好的检出率，能及时为临床提供有效的诊疗指标，减少误诊和漏诊的发生率。展开更多
文摘BACKGROUND Immunoglobulin light chain(AL)amyloidosis is a rare disease characterized by deposition of ALs essentially in any organ or tissue,with cardiac involvement being very frequent(61%).Early diagnosis is of high importance because early initiation of treatment in AL amyloidosis may improve outcomes.Despite the administration of immunotherapeutic agents,in particular bortezomib and daratumumab,which have improved the outcomes of AL amyloidosis,antiplasma cell therapy remains suboptimal for some patients.CASE SUMMARY We report the case of a 55-year-old man presenting with heart failure who was diagnosed with cardiac AL amyloidosis by an endomyocardial biopsy.He experienced a short-term hematological remission with no organ response after being administered a bortezomib-daratumumab containing regimen.The treatment was switched to pomolidomide due to pulmonary involvement and progressive pleural effusion,in which flow cytometry analysis showed abnormal plasma cells.After two cycles of this regimen,the pleural effusion was controlled effectively with no recurrence.CONCLUSION This case emphasizes the crucial role of endomyocardial biopsy in early diagnosis of cardiac amyloidosis and suggests that pomolidomide may be an effective treatment for patients with AL amyloidosis that is relapsed/refractory to both bortezomib and daratumumab.
文摘目的：探讨血清免疫固定电泳（IFE）、蛋白电泳（SPE）和免疫球蛋白定量在多发性骨髓瘤（MM）诊断中的作用。方法选择2012年6月～2013年12月北京积水潭医院符合 MM 诊断标准的 MM 患者192例为研究对象，选择同期健康体检者30例为对照组，对 MM 患者进行免疫固定电泳、血清蛋白电泳和免疫球蛋白及轻链定量检测并对结果进行分析。结果192例 MM 患者有120例血清蛋白电泳检出 M 带，检出率为62.5％；免疫固定电泳174例检出 M 带，检出率为90.6％；分型结果显示以 IgG 型最多（106例，55.2％），其中 IgG-λ型66例（34.4％）；IgA 型次之（36例，18.8％），轻链型最低（24例，12.5％）。免疫球蛋白、轻链定量测定结果显示，在各型 MM 患者血清中出现相应免疫球蛋白及轻链的变化，与正常对照组比较差异具有统计学意义（P ＜0.05），检出率为67.7％（130／192）。无论是κ型还是λ型 M 蛋白，κ／λ比值均具有明显差异（P ＜0.05），检出率为85.4％（164／192）。结论免疫固定电泳、免疫球蛋白及轻链定量、κ／λ比值测定等免疫学检测在 MM 诊断中有较好的检出率，能及时为临床提供有效的诊疗指标，减少误诊和漏诊的发生率。
