Endoscopic and pathological characteristics of gastrointestinal amyloidosis: a retrospective analysis

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.