免疫球蛋白轻链型心肌淀粉样变性临床分析

Clinical Analysis of Immunoglobulin Amyloid Light-chain Cardiac Amyloidosis

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c TnI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。

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 rat〔e 74.4%(32/43)〕.Typeλwas the most prevalen〔t 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〔3474(1079,7040)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 ALCA 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.