免疫球蛋白轻链型心肌淀粉样变性临床分析

背景　免疫球蛋白轻链型心肌淀粉样变性（AL-CA）进展快、病死率高，但目前对其临床特点认识不足。目的　总结AL-CA患者临床资料，提高临床认知。方法　回顾性分析2012年1月-2016年12月于首都医科大学附属北京朝阳医院住院并诊断为AL-CA的43例患者的一般资料、临床症状和体征、实验室检查、十二导联心电图、超声心动图、心脏核磁共振成像、病理组织活检及治疗策略。结果　AL-CA患者平均发病年龄（59±10）岁，且多见于男性〔32例（74.4%）〕，轻链分型以λ型为主〔30例（69.8%）〕，25例（58.1%）合并多发性骨髓瘤。患者入院症状各异，临床表现主要以胸闷气促〔18例（41.9%）〕、下肢水肿〔9例（20.9%）〕及乏力〔9例（20.9%）〕等表现多见。实验室检查多见B型利钠肽（BNP）〔3 474（1 079，7 040） ng/L〕及心肌肌钙蛋白I（cTnI）〔0.21（0.06，1.47） μg/L〕升高，部分合并血红蛋白下降〔13例（30.2%）〕及血肌酐〔32例（74.4%）〕升高。十二导联心电图表现依次为假性病理性Q波12例（27.9%）、肢体导联低电压11例（25.6%）及胸前导联R波递增不良6例（14.0%），可出现节律异常及传导阻滞。超声心动图表现为心房增大34例（79.1%）、心室壁增厚35例（81.4%）及心肌闪烁样回声或毛玻璃样改变8例（18.6%），合并舒张及收缩功能受限21例（48.8%），合并心包积液19例（44.2%）。心脏核磁共振成像心室壁钆延迟强化阳性率高（4/4）。病理组织活检以骨髓活检最为普及〔60.6%（20/33）〕，但肾穿活检阳性率高（5/6）。大部分患者接受化疗〔38例（88.4%）〕，最常用方案为地塞米松+硼替佐米或地塞米松+环磷酰胺+硼替佐米。结论　本组AL-CA患者临床表现没有特异性，实验室检查多见BNP及cTnI升高，心电图可见肢体导联低电压或假性病理性Q波，超声心动图表现同心性左心室肥大或心肌闪烁样回声，心脏核磁共振成像出现钆延迟强化影像，心外组织活检以肾穿刺活检阳性率高。

Clinical Analysis of Immunoglobulin Amyloid Light-chain Cardiac Amyloidosis

Background　The immunoglobulin amyloid light-chain cardiac amyloidosis （AL-CA） has a rapid progress and a high mortality rate，but its clinical characteristics are not fully recognized at present.Objective　To summarize the clinical data of immunoglobulin AL-CA patients to improve clinicians' awareness of this disease.Methods　Forty-three inpatients with AL-CA from Beijing Chao-yang Hospital，Capital Medical University were enrolled from January 2012 to December 2016.A retrospective analysis was performed on their general data，clinical symptoms and signs，laboratory examination，12-lead electrocardiogram，echocardiogram，cardiac magnetic resonance imaging，biopsy and therapeutic strategies.Results　（1）The mean onset age was （59±10） years old.Men had a higher prevalence rate〔74.4%（32/43）〕．Type λ was the most prevalent〔69.8% （30/43）〕．25 cases （58.1%） were accompanied with multiple myeloma.（2） Symptoms observed during admission were various.Clinical manifestations mainly consisted of chest tightness and shortness of breath 〔18 cases（41.9%）〕，edema of lower extremity 〔9 cases（20.9%）〕 and tiredness 〔9 cases（20.9%）〕.（3） The increase in BNP〔3 474（1 079，7 040）ng/L〕and cTnI〔0.21（0.06，1.47）μg/L〕 were common in laboratory tests，some of which were accompanied with decreased hemoglobin 〔13 cases（30.2%） 〕and elevated serum creatinine〔32 cases（74.4%）〕.The most common manifestations of electrocardiogram were pathologic Q wave 〔12 cases（27.9%）〕，low voltage of the limb leads 〔11 cases（25.6%）〕 and poor R wave progression in precordial leads 〔6 cases（14.0%）〕.Dysrhythmia and conduction block were also be found in some cases.Echocardiography showed atrial enlargement 〔34 cases（79.1%）〕，ventricular wall thickening 〔35 cases（81.4%）〕，myocardial scintillating echo or ground-glass attenuation 〔8 cases（18.6%）〕，restricted diastolic and systolic function 〔21 cases（48.8%）〕，pericardial effusion 〔19 cases（44.2%）〕.Cardiac MRI showed high positive rate （4/4） of late gadolinium enhancement.Among all kinds of biopsies，bone marrow biopsy was the most used〔60.6%（20/33）〕，however，renal biopsy has the highest positive rate（5/6）.（4） Most patients received chemotherapy 〔38 cases（88.4%）〕.The regimens mostly used were BD （bortezomib + dexamethasone） and CyBorD （cyclophosphamide + bortezomib + dexamethasone）.Conclusion　According to the results of this series of cases，the clinical manifestations of patients with AL-CA are very nonspecific.The increase of BNP and cTnI is more common in laboratory tests，electrocardiogram shows low voltage of the limb leads or pathologic Q wave，echocardiography shows concentric left ventricular hypertrophy or myocardial scintillating echo，cardiac MRI shows late gadolinium enhancement.The highest positive results are from renal biopsy among all kinds of biopsies.