An Interesting Case in Gastrointestinal Amyloidosis

Abstract

We report this case of a 73 year old woman who presented to the emergency department with a two week history of persistent nausea and vomiting. The vomiting was bilious and non-bloody. She denied any changes in her appetite but noted a 40 pound weight loss over the course of one year. Her physical examination was unremarkable. An abdominal x-ray revealed no evidence of obstruction. CT imaging of the abdomen showed multiple enlarged lymph nodes involving the mesentery, retroperitoneum, and pelvis in addition to innumerable hypoenhancing liver lesions and distal ileal narrowing. The patient underwent esophagogastroduodenoscopy and colonoscopy during which multiple random biopsies were taken from the stomach and terminal ileum. Biopsies from both the stomach and terminal ileum demonstrated amyloid deposition. A CT guided biopsy of the mesenteric lymph nodes was attempted, however, was unsuccessful due to the small size of the lymph nodes. A subsequent endoscopic ultrasound was performed, which demonstrated multiple perigastric and abdominal lymph nodes. A transgastric FNA was performed, however, did not reveal any abnormalities. Serum protein electrophoresis revealed markedly elevated kappa light chain. A subsequent bone marrow biopsy was done to exclude any plasma cell dyscrasias, results of the biopsy showed no amyloid deposition and no evidence of light chain by immunohistochemistry. Gastrointestinal amyloidosis is a rare disease. GI involvement in amyloidosis is defined as the presence of GI symptoms in addition to direct biopsy verification of amyloid deposition in the gastrointestinal mucosa. Due to non-specific symptoms the diagnosis can easily be missed in patients who have not been diagnosed previously with amyloidosis or a related disease. Gastrointestinal amyloidosis can present with non-specific GI symptoms complicated by malabsorption, dysmotility,gastrointestinal bleeding and/or obstruction. The diagnosis should be confirmed by tissue biopsy of the duodenal or colorectal mucosa.Localized GI amyloidosis without evidence of systemic involvement appears to be a distinct entity. Patients with amyloidosis of the GI tract should be monitored and treated symptomatically. Existing data suggests that the rate of progression to systemic disease is low and survival is excellent without systemic therapy. Our case demonstrated localized GI amyloidosis without evidence of systemic involvement. The diagnosis was challenging given the nonspecific gastrointestinal symptoms and weight loss.Figure 1Figure 2Figure 3