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The following is a summary of “Endoscopic and pathological characteristics of gastrointestinal amyloidosis: a retrospective analysis,” published in the February 2025 issue of the BMC Gastroenterology by Niu et al.

Gastrointestinal amyloidosis (GIA) is an uncommon yet clinically significant manifestation of systemic amyloidosis, characterized by the deposition of amyloid fibrils within the gastrointestinal (GI) tract. This condition presents with a broad spectrum of symptoms, ranging from asymptomatic cases to severe gastrointestinal dysfunction, complicating early diagnosis due to the nonspecific nature of clinical and endoscopic findings. The present study aimed to evaluate the clinical, endoscopic, and pathological characteristics of GIA and to identify potential diagnostic markers that may facilitate earlier and more accurate detection. A retrospective analysis was conducted on 36 patients diagnosed with GIA based on histopathological confirmation using Congo Red staining. 

Clinical presentations, lesion morphology, and patterns of amyloid deposition were examined to establish correlations between endoscopic findings and disease pathology. The study cohort included 22 males (61.1%) and 14 females (38.9%), with an average age of 61.7 years. Endoscopic manifestations varied widely, with the most frequently observed features being elevated lesions (57.1%), predominantly located in the esophagus, stomach, and small intestine, and white patches (66.7%) primarily affecting the duodenum. Histopathological examination confirmed amyloid deposits in 62.8% of biopsy specimens, with the small intestine demonstrating the highest detection rate (100%), while the colorectum exhibited the lowest (37.5%). Clinical symptoms were found to correlate with lesion morphology, as patients with elevated lesions were frequently asymptomatic, whereas those presenting with flat lesions reported multiple symptoms, including abdominal pain, distension, discomfort, and acid reflux. 

Furthermore, the depth of amyloid infiltration varied by GI segment, with predominant mucosal involvement in the esophagus and stomach, while the duodenum and colon exhibited deeper submucosal infiltration. These findings underscore the importance of standardized histopathological examination in the diagnosis of GIA, emphasizing the need for targeted biopsy techniques that account for lesion morphology and depth of amyloid deposition. The study highlights that optimizing tissue sampling strategies may significantly reduce the risk of misdiagnosis and improve early detection rates in patients with suspected GIA.

Source: bmcgastroenterol.biomedcentral.com/articles/10.1186/s12876-025-03670-z