Rare presentation of primary (AL) amyloidosis as gastrointestinal hemorrhage without systemic involvement

Abstract

We are reporting a rare case of a patient with primary (AL) amyloidosis presenting with an acute non-variceal upper gastrointestinal hemorrhage in the absence of other systemic involvement. The case report involves a 58-year-old woman with significant cardiac history and hereditary blood disorder who came in complaining of abdominal pain and coffee-ground emesis for two days. Computed tomography (CT) scan of the abdomen and pelvis with contrast revealed segmental wall thickening of the proximal jejunum with hyperdense, heterogenous luminal content. Similar findings were evident in the left lower small bowel region, suspicious for small bowel hematoma and the possibility of intraluminal clots. Esophagogastroduodenoscopy performed post resuscitation showed punctate, erythematous lesions throughout the stomach as well as regions of small bowel mucosa that appeared scalloped, ulcerated, and hemorrhaged on contact. Despite initial treatment for immunostain-positive focal cytomegalovirus gastritis, follow-up esophagogastroduodenoscopy after two months continued to demonstrate friable and irregular duodenal mucosa hinting at a different underlying etiology. Pathology reports from analyses of biopsy samples highlighted infiltration and expansion of the lamina propria and submucosa. Subsequent staining with congo red/crystal violet and appropriate subtyping established the diagnosis of AL (kappa)-type amyloidosis. The significance of this case lies in the fact that our patient did not have the typically seen diagnostic systemic involvements-namely of heart and kidneys-usually seen in primary (AL) amyloidosis patients. It was the persistent endoscopic findings and biopsy results which gave clues to the physicians regarding the possibility of an abnormal protein-deposition entity.

Keywords: AL amyloidosis; Amyloid deposition; Endoscopic biopsy; Endoscopic finding; Gastric/intestinal mucosa; Gastrointestinal hemorrhage; Mucosal inflammation; Primary amyloidosis; Upper gastrointestinal bleeding.

Figure 1

Small bowel biopsies with multiple immunostains confirming amyloid deposition. A: Duodenal Biopsy; Congo Red (× 20); Infiltration and expansion of the lamina propria and submucosa by amyloid deposition staining positive for Congo-Red; B: Small Bowel Biopsy; Crystal Violet (× 40); Marked acute duodenitis with blood, fibrin, and acute inflammatory exudates, suggestive of bleeding site. Crystal Violet stain positive for amyloid.

Figure 2

Second segment of the duodenum demonstrating notched mucosal appearance.

Figure 3

Colon Biopsy; Congo Red (× 40). Fragments of colonic mucosa and separate fragments of submucosa with eosinophilic material deposited around blood vessels, consistent with amyloid deposition. Congo Red stain positive.