Symptomatic Primary (AL) Amyloidosis of the GIT: Challenging Presentation of a Rare Diagnosis

Abstract

Introduction: Primary Amyloidosis of the gastrointestinal tract (GIT) without clinical involvement of other organs is extremely rare. We report a unique case of primary GIT Amyloidosis (AL) presenting with severe GI bleeding and ultimately leading to patient demise. Case description: A 68-year-old female with history of diabetes mellitus, coronary artery disease presented with 5-month history of diffuse abdominal pain, nausea, vomiting, and weight loss of about 40 lbs. She underwent upper and lower endoscopy showing ulcerative gastro-duodenitis with partial gastric outlet obstruction and hemorrhagic colitis. Biopsies from stomach and duodenum showed amyloid deposition. Serum and urine protein electrophoresis showed elevated monoclonal protein, IgG lambda type. Serum free lambda chains were also elevated. Both bone marrow and abdominal fat pad biopsies were negative for amyloid deposition. No other major organ systems seemed to be involved. Partial obstruction was managed with nasogastric tube placement and supportive care. Within a few days she developed severe hematemesis. Repeat upper endoscopy showed several mucosal bleeding spots in stomach with evolving submucosal hematomas. Mucosa was extremely friable and bled on minimal contact. Bleeding was eventually controlled with epinephrine injection and argon plasma coagulation. She was started on total parenteral nutrition as gastrostomy or jejunostomy were ruled out given widespread GI involvement with amyloidosis and risk of potentiating bleeding. During the course of next few weeks she continued to have issues with GI bleeding requiring frequent blood transfusions. She was started on cyclophosphamide, bortezomib and dexamethasone (CyBorD) and received 2 cylces. Unfortunately, 2 weeks later she died of acute myocardial infarction in the face of worsening anemia and need to withhold anti-platelets. Discussion: This is a rare presentation of Primary Amyloidosis limited to GIT. Our case has several unique features and learning points. Amyloidosis of GIT should be considered in patients with multiple GI complaints and pathologist should always rule it out even in absence of other organ system involvement. GI bleeding from amyloidosis is rare but can be extremely challenging and even be potentially fatal in the absence of amyloid-targeted therapy. Nasogastric tube placement in such patients can precipitate bleeding. The role of myelosuppressive chemotherapy in the absence of bone marrow involvement and in the presence of GI bleeding is debatable.Figure 1Figure 2Figure 3