PDF(Pubmed)
Abstract：
Late diagnosis of light chain (AL) amyloidosis can lead to catastrophic consequences on the quality of life of affected patients and overall disease prognosis. Therefore, clinicians should have high suspicion and recognize clinical red flags for amyloidosis. This case report presents a 65-year-old female who presented to the emergency department with chronic diarrhea and significant weight loss with significant hypotension. The patient was treated four weeks prior to admission with a five-day course of nitrofurantoin for urinary tract infection. The initial workup was positive for Clostridium difficile(C.diff), which was treated medically; however, the patient started to complain of mild shortness of breath accompanied by mildly elevated brain natriuretic peptide (BNP). Later on, the patient had a cardiac arrest and was appropriately resuscitated. Subsequent ECHO showed significant left ventricular hypertrophy, raising high suspicion of myocardial infiltration. Because of persistent diarrhea despite aggressive medical management and an inconclusive workup, the patient underwent colonoscopy with duodenum biopsy, which revealed amyloid deposition confirmed by Congo red staining. The patient afterward suffered from a stroke and recurrent syncopal episodes requiring critical care admission. Due to a compromised quality of life, the patient eventually opted for hospice care. In view of insufficient prospective data spotlighting AL amyloidosis, all patients should be treated within clinical trials whenever possible and ideally evaluated for autologous hematopoietic cell transplantation (HCT) eligibility.
摘要：
轻链（AL）淀粉样变性的晚期诊断可导致对受影响患者的生活质量和整体疾病预后的灾难性后果。因此,临床医师应高度怀疑并认识到淀粉样变性的临床危险信号.该病例报告介绍了一名65岁的女性，她因慢性腹泻和明显的体重减轻而出现在急诊科。患者在入院前四周接受了为期五天的呋喃妥因治疗尿路感染的疗程。最初的检查对艰难梭菌呈阳性（C.diff),经过医学治疗；然而，患者开始抱怨轻度呼吸急促伴有轻度脑钠肽(BNP)升高.稍后，患者心脏骤停，并进行了适当的复苏。随后ECHO显示明显的左心室肥厚，高度怀疑心肌浸润.由于持续性腹泻，尽管积极的医疗管理和不确定的检查，患者接受了十二指肠活检的结肠镜检查，刚果红染色证实淀粉样蛋白沉积。患者随后患有中风和复发性晕厥发作，需要接受重症监护。由于生活质量受损，病人最终选择了临终关怀。鉴于缺乏足够的前瞻性数据突出AL淀粉样变性，所有患者均应尽可能在临床试验中接受治疗,并对自体造血细胞移植(HCT)的合格性进行理想评估.
