Niu Zhanyue, Lang Yanfei, Shen Yuting, Zhang Hejun, Xue Yan, Ding Shigang
Department of Gastroenterology, Peking University Third Hospital, No. 49 Huayuan North Road, Haidian District, Beijing, China.
BMC Gastroenterol. 2025 Feb 15;25(1):81. doi: 10.1186/s12876-025-03670-z.
Gastrointestinal amyloidosis (GIA) is a rare manifestation of amyloidosis, characterized by amyloid fibril deposition in the gastrointestinal tract, leading to a range of clinical symptoms. Early diagnosis is challenging due to the nonspecific nature of endoscopic and clinical findings.
To analyze the clinical, endoscopic, and pathological characteristics of GIA and identify potential diagnostic markers for earlier detection.
A retrospective study was conducted on 36 patients diagnosed with GIA based on histopathological findings, including Congo Red staining. Clinical, endoscopic, and pathological data were analyzed to identify correlations between lesion morphology, clinical symptoms, and amyloid deposition.
The cohort consisted of 22 males (61.1%) and 14 females (38.9%), with a mean age of 61.7 years. Endoscopic findings were diverse, with elevated lesions (57.1%) most common in the esophagus, stomach, and small intestine, and white patches (66.7%) prevalent in the duodenum. Histopathological analysis confirmed amyloid deposits in 62.8% of biopsy specimens. The small intestine exhibited the highest detection rate (100%), while the colorectum had the lowest (37.5%). Patients with elevated lesions may be asymptomatic, and among those with symptoms, abdominal pain is most common. Flat lesions are primarily associated with multiple symptoms, with abdominal discomfort, pain, distension, and acid reflux being the most frequent. The infiltration depth varied across different gastrointestinal tract segments, with the mucosal layer predominantly affected in the esophagus and stomach, whereas the submucosal layer more significantly involved in the duodenum and colon.
Gastrointestinal amyloidosis presents with a wide range of clinical symptoms and endoscopic manifestations. Histopathological diagnosis through standardized biopsy is crucial, and attention should be given to the depth of tissue sampling, as it may play a significant role in reducing misdiagnosis.
胃肠道淀粉样变性（GIA）是淀粉样变性的一种罕见表现形式，其特征是淀粉样纤维在胃肠道沉积，导致一系列临床症状。由于内镜检查和临床发现的非特异性，早期诊断具有挑战性。
分析GIA的临床、内镜和病理特征，并确定可用于早期检测的潜在诊断标志物。
对36例根据组织病理学检查结果（包括刚果红染色）确诊为GIA的患者进行回顾性研究。分析临床、内镜和病理数据，以确定病变形态、临床症状与淀粉样沉积之间的相关性。
该队列包括22名男性（61.1%）和14名女性（38.9%），平均年龄为61.7岁。内镜检查结果多样，隆起性病变（57.1%）在食管、胃和小肠中最为常见，白色斑块（66.7%）在十二指肠中普遍存在。组织病理学分析证实62.8%的活检标本中有淀粉样沉积物。小肠的检出率最高（100%），而结直肠的检出率最低（37.5%）。隆起性病变患者可能无症状，有症状的患者中，腹痛最为常见。扁平病变主要与多种症状相关，腹部不适、疼痛、腹胀和反酸最为常见。不同胃肠道段的浸润深度各不相同，食管和胃主要累及黏膜层，而十二指肠和结肠黏膜下层受累更明显。
胃肠道淀粉样变性表现出广泛的临床症状和内镜表现。通过标准化活检进行组织病理学诊断至关重要，应注意组织采样深度，因为它可能在减少误诊方面发挥重要作用。
