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系统性轻链(AL)淀粉样变性的非典型表现

Atypical Presentation of Systemic Amyloid Light Chain (AL) Amyloidosis.

作者信息

Faraci James, Connor Joseph A, Randhawa Sukhbir

机构信息

Department of Graduate Medical Education, Samaritan Medical Center, Watertown, USA.

Surgery, Lake Erie College of Osteopathic Medicine, Elmira, USA.

出版信息

Cureus. 2025 Jun 11;17(6):e85777. doi: 10.7759/cureus.85777. eCollection 2025 Jun.

DOI:10.7759/cureus.85777
PMID:40656390
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12254046/
Abstract

Light chain (AL) amyloidosis is caused by a plasma cell clone that produces a dysfunctional, monoclonal light chain. This light chain misfolds and aggregates, resulting in catastrophic organ damage and eventual death. Due to the multiple organs affected by the disease, symptoms can be vague, such as lethargy, fatigue, weight loss, and peripheral edema. This case presentation follows a 66-year-old female patient who presented to our emergency department complaining of progressive shortness of breath (SOB). The patient denied any other associated symptoms and denied any past significant medical history. The lack of other associated symptoms or past diagnoses was a part of this atypical presentation, as the patient frequently complained of a multitude of symptoms affecting more than one organ system, as the pathogenesis of the disease is systemic in nature. Additionally, individuals with undiagnosed amyloidosis have often been diagnosed with other disease processes based on their symptomatology, due to their sometimes nonspecific nature. Upon further evaluation, bilateral pleural effusions were noted on imaging, which was treated with a pigtail pleural catheter. Atrial fibrillation was noted on ECG and was treated with both rate- and rhythm-controlled amiodarone. AL amyloidosis was suspected on transthoracic cardiac ultrasound, which was described as a "grainy" appearance of the myocardium, along with heart failure and left ventricular hypertrophy, supported by serum protein electrophoresis (SPEP) and urine protein electrophoresis (UPEP) results. This was confirmed by abdominal fat pad and bone marrow biopsies. While the use of cardiac ultrasound in the preliminary workup of amyloidosis is supported by evidence-based practice, there is a need for confirmatory diagnostic testing. This led to the decision to utilize fat pad biopsy as the primary definitive diagnostic tool, as it was readily available within the hospital system and was technically easier than many of the alternatives. However, this is neither supported nor refuted as the gold standard by the available literature. The patient was transferred to a higher level of care at a center specifically focused on the treatment of amyloidosis to receive the current gold standard of treatment, which was unavailable at our facility due to a lack of these specialized medications, as well as a provider comfortable with the use of these treatments.

摘要

轻链(AL)淀粉样变性由产生功能异常的单克隆轻链的浆细胞克隆引起。这种轻链错误折叠并聚集,导致灾难性的器官损伤并最终死亡。由于该疾病会影响多个器官,症状可能不明确,如嗜睡、疲劳、体重减轻和外周水肿。本病例报告的是一名66岁女性患者,她到我们急诊科就诊,主诉进行性气短(SOB)。患者否认有任何其他相关症状,也否认有任何重大既往病史。缺乏其他相关症状或既往诊断是这种非典型表现的一部分,因为患者经常抱怨多种影响多个器官系统的症状,因为该疾病的发病机制本质上是全身性的。此外,由于症状有时不具有特异性,未确诊淀粉样变性的个体常根据其症状被诊断为其他疾病过程。进一步评估发现,影像学检查显示双侧胸腔积液,采用猪尾胸腔导管进行治疗。心电图显示心房颤动,使用胺碘酮进行心率和节律控制治疗。经胸心脏超声检查怀疑为AL淀粉样变性,其表现为心肌“颗粒状”外观,同时伴有心力衰竭和左心室肥厚,血清蛋白电泳(SPEP)和尿蛋白电泳(UPEP)结果支持这一诊断。腹部脂肪垫和骨髓活检证实了这一诊断。虽然在淀粉样变性的初步检查中使用心脏超声有循证医学支持,但仍需要进行确诊性诊断测试。这导致决定将脂肪垫活检作为主要的确定性诊断工具,因为它在医院系统中容易获得,而且在技术上比许多其他方法更简单。然而,现有文献既未支持也未反驳其作为金标准。患者被转至一家专门治疗淀粉样变性的中心接受更高水平的护理,以接受目前的金标准治疗,由于缺乏这些特殊药物以及熟悉使用这些治疗方法的医疗人员,我们机构无法提供这种治疗。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/281e/12254046/062c93db87de/cureus-0017-00000085777-i04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/281e/12254046/97a6dd141dbf/cureus-0017-00000085777-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/281e/12254046/a4d9b29a8edc/cureus-0017-00000085777-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/281e/12254046/0367038c0ae6/cureus-0017-00000085777-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/281e/12254046/062c93db87de/cureus-0017-00000085777-i04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/281e/12254046/97a6dd141dbf/cureus-0017-00000085777-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/281e/12254046/a4d9b29a8edc/cureus-0017-00000085777-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/281e/12254046/0367038c0ae6/cureus-0017-00000085777-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/281e/12254046/062c93db87de/cureus-0017-00000085777-i04.jpg

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