Department of Medicine, Stanford University School of Medicine, Stanford, CA, USA.
Division of Cardiovascular Medicine and Stanford Amyloid Center, Stanford University School of Medicine, Stanford, CA, USA.
Neurogastroenterol Motil. 2018 Apr;30(4):e13229. doi: 10.1111/nmo.13229. Epub 2017 Oct 10.
Gastrointestinal (GI) symptoms in systemic amyloidosis patients are poorly characterized. This purpose of this study is to define the epidemiology and clinical implications of such symptoms.
This was a retrospective cohort study of 583 amyloid patients seen at a tertiary referral center. Of 96 symptomatic patients, 82 received endoscopic biopsies, subsequently grouped into those with histologic evidence of GI amyloid (biopsy proven) vs without (biopsy absent).
16.8% of patients had GI symptoms, and had more abnormal NT-proBNP, cardiac ejection fraction, serum albumin, and alkaline phosphatase (P < .01). Of those who received endoscopy, the sites of highest diagnostic yield were stomach, duodenum and colon. The most common symptom was abdominal pain, nausea, or vomiting (50.0%). Of the symptomatic patients, only 37 (45%) had biopsy proven GI amyloid. Biopsy proven patients more often had cardiac involvement (P < .005), and more often received hematologic therapy or transplant (P = .01). Biopsy absent patients had more frequent neurologic involvement (P = .17). Biopsy status had no significant correlation with other indicators of amyloid burden, GI symptoms or management.
CONCLUSIONS & INFERENCES: Nearly one in six amyloid patients have GI symptoms, and half do not have GI amyloid. The type of symptom does not predict endoscopic findings. Most biopsy absent patients are not managed as a functional disorder despite no alternative etiology. Gastroenterologists may have an increased role to play in the care of systemic amyloidosis beyond performing endoscopies, such as evaluating cardiac amyloid patients for concurrent GI amyloid.
系统性淀粉样变患者的胃肠道（GI）症状特征不明显。本研究旨在明确此类症状的流行病学特征和临床意义。
这是一项对在三级转诊中心就诊的 583 例淀粉样变患者进行的回顾性队列研究。96 例有症状的患者中，82 例行内镜活检，随后根据是否有组织学证据（活检证实）分为两组。
16.8%的患者有 GI 症状，且 NT-proBNP、心脏射血分数、血清白蛋白和碱性磷酸酶等指标异常更为明显（P<0.01）。接受内镜检查的患者中，胃、十二指肠和结肠的诊断阳性率最高。最常见的症状是腹痛、恶心或呕吐（50.0%）。在有症状的患者中，仅有 37 例（45%）经活检证实存在 GI 淀粉样变。活检证实的患者更常出现心脏受累（P<0.005），且更常接受血液学治疗或移植（P=0.01）。活检阴性的患者更常出现神经受累（P=0.17）。活检状态与其他淀粉样变负荷、GI 症状或管理指标之间无显著相关性。
近六分之一的淀粉样变患者有 GI 症状，且半数患者无 GI 淀粉样变。症状类型并不能预测内镜检查结果。尽管没有其他病因，但大多数活检阴性的患者并未被作为功能性疾病进行治疗。除了进行内镜检查外，胃肠病学家在系统性淀粉样变的治疗中可能发挥更大的作用，例如评估同时存在的 GI 淀粉样变的心脏淀粉样变患者。
