CLINICAL AND ENDOSCOPIC FINDINGS IN GASTROINTESTINAL AMYLOIDOSIS: A RETROSPECTIVE SINGLE-CENTER STUDY

Aims To describe the main clinical and endoscopic characteristics of gastrointestinal amyloidosis and evaluate its prognostic impact.

Methods A retrospective study including all patients with histological diagnosis of gastrointestinal amyloidosis between January 2010 and December 2019 was performed.

Results A total of 9 patients were identified, with mean age of 57.1 years and female predominance (6/9). The most common type was AA amyloidosis (5/9), followed by AL amyloidosis (3/9). Globally, the most commonly affected gastrointestinal segment was the stomach (6/9), followed by duodenum (4/9) and colon (3/9). There was involvement of more than one gastrointestinal segment in 3 patients. The most common clinical symptoms were diarrhea (4/9), weight loss (3/9), nausea and vomiting (2/9) and rectal bleeding (2/9). One patient was asymptomatic. Abnormal endoscopic findings related to amyloid infiltration were found in 7 patients, including areas of erythema (4/7), duodenal lymphangiectasia (2/7), polypoid lesions (2/7) or nodular mucosal surface (1/7). In the remaining 2 patients, no endoscopic abnormalities were found. Amyloidosis was restricted to gastrointestinal tract in 3/9 patients, whereas in the remaining (6/9), other organ systems were involved, most commonly kidney (5/9), heart (3/9) and peripheral nervous system (2/9). During follow-up, three patients died, which translates into an overall mortality rate of 33%. Median survival was 30 months (17.99-42.00, CI 95%).

Conclusions Gastrointestinal involvement by systemic amyloidosis is a rare disease that often presents with nonspecific clinical manifestations and variable endoscopic findings. It is associated with high mortality and a high index of suspicion is essential to obtain an early diagnosis.

Publication History

Article published online:
14 April 2022