Yu Yi, Li Zhi-Chao, Li Guang-Yin, Wang Ting, Li Yi-Gang
Department of Ultrasound, Shanghai Chest Hospital, Shanghai Jiao Tong University School of Medicine, 241 Huaihai Road, Shanghai, 200030, China.
Department of Cardiology, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, 1665 Kongjiang Road, Shanghai, 200092, China.
BMC Cardiovasc Disord. 2025 Jan 2;25(1):1. doi: 10.1186/s12872-024-04441-6.
Systemic light chain amyloidosis is a rare and debilitating disease, especially for which initially presented with digestive tract involvement. Myocardial amyloidosis is highly aggressive with generally poor prognosis and often resulted in missed diagnosis or misdiagnosis with routine examination tools. Multimodality imaging play an important role in diagnosing the amyloidosis effect on multiple organs. Chemoradiotherapy is the mainstay of treatment.
This article presents a rare case of systemic light chain amyloidosis, initially with gastrointestinal symptoms, in a 68-year-old male. He was hospitalized with diarrhea for one year and a half, dysphagia for 4 months, but he had no dyspnea. The transthoracic echocardiogram revealed myocardial hypertrophy of the left ventricle, the hypertrophic heart muscle echoed like "ground glass". The left ventricular ejection fraction (LVEF) detected by Simpson method was 51% and global longitudinal strain (GLS) was -9.00%. But cardiac magnetic resonance showed the patient without gadolinium delayed enhancement. The urinary protein series quantification and the serum free light chain levels were all increased. While the ratio of free κ and free λ was decreased. Hence, the abdominal fat biopsy of the patient was amyloidosis by electronic and immunoelectron microscopy. Organs involved include heart, kidneys, gastrointestinal tract and nervous system, stage III of mayo 2012 model. The patient was treated with Dara-BCD chemotherapy. This case underscores the diagnostic complexity, emphasizing the need for early identification given the grim prognosis associated with systemic AL amyloidosis requiring clinical data, detailed imaging, and histopathological insights. After discharge, the patient became better and followed up in the outpatient.
Systemic light chain amyloidosis can easily be missed diagnosis or misdiagnosis in its early stages, losing the opportunity for initiating earlier treatments to improve potential patient outcomes. Despite advancements in diagnostic biomarkers, this case highlights the potential for missed diagnosis with standard CMR imaging when gadolinium enhancement is negative. The utility of echocardiographic features such as reduced GLS and abnormal ECG findings emerges as critical in early identification of myocardial amyloidosis. The correct diagnosis of this case relied on the comprehensive utilization of multimodal imaging techniques including biopsy.
系统性轻链淀粉样变性是一种罕见且使人衰弱的疾病，尤其是最初表现为消化道受累的情况。心肌淀粉样变性具有高度侵袭性，预后通常较差，常规检查工具常常导致漏诊或误诊。多模态成像在诊断淀粉样变性对多个器官的影响方面发挥着重要作用。放化疗是主要的治疗方法。
本文介绍了一例罕见的系统性轻链淀粉样变性病例，患者为一名68岁男性，最初表现为胃肠道症状。他因腹泻住院一年半，吞咽困难4个月，但无呼吸困难。经胸超声心动图显示左心室心肌肥厚，肥厚心肌回声像“毛玻璃”。采用Simpson法检测的左心室射血分数（LVEF）为51%，整体纵向应变（GLS）为-9.00%。但心脏磁共振显示患者无钆延迟强化。尿蛋白系列定量和血清游离轻链水平均升高。而游离κ和游离λ的比值降低。因此，通过电子显微镜和免疫电子显微镜检查，患者的腹部脂肪活检为淀粉样变性。受累器官包括心脏、肾脏、胃肠道和神经系统，属于Mayo 2012模型的III期。该患者接受了Dara-BCD化疗。该病例强调了诊断的复杂性，鉴于系统性AL淀粉样变性的预后严峻，需要早期识别，这需要临床数据、详细的影像学检查和组织病理学见解。出院后，患者病情好转，在门诊进行随访。
系统性轻链淀粉样变性在早期很容易被漏诊或误诊，从而失去早期治疗以改善患者潜在预后的机会。尽管诊断生物标志物有所进展，但该病例突出了钆增强为阴性时标准心脏磁共振成像存在漏诊的可能性。超声心动图特征如GLS降低和异常心电图表现对于早期识别心肌淀粉样变性至关重要。该病例的正确诊断依赖于包括活检在内的多模态成像技术的综合应用。
