Systemic AL-Amyloidosis Initially Presenting as an Isolated Gastroesophageal Junction Amyloidosis

Abstract

A 55-year-old, African-American man with history of chronic abdominal pain, was admitted for progressive epigastric abdominal pain, anorexia and weight loss of 20 kilograms over the last year. Abdominal CT did not reveal any significant abnormalities. EGD revealed a cratered, non-bleeding, 10mm-wide, ulcerative-like lesion at the gastroesophageal (GE) junction. Two non-bleeding cratered gastric ulcers with no stigmata of bleeding were found in the gastric antrum as well as few, medium-sized non-bleeding erosions at the incisura and in the gastric antrum. Pathologic examination of the GE junction revealed amyloidosis with sample being positive for Congo red and crystal violet stain. An immunohistochemical stains revealed 3+ lambda staining and 1+ kappa staining, consistent with monoclonal lambda light chain AL amyloidosis. The gastric biopsy was positive for Helicobacter pylori, however did not reveal amyloidosis. Subsequent bone marrow biopsy revealed plasma cell involvement of 4%. Electrophoresis and immunofixation results were consistent with AL amyloidosis. A repeat biopsy several months after revealed progression to diffuse gastrointestinal amyloidosis. Amyloidosis is a condition of extracellular fibrillar protein deposition, which is commonly associated with tissue damage and functional compromise. Primary amyloidosis usually represents an amyloidosis associated with immunocye dyscrasia and is caused by clonal proliferation of plasma cells that synthesize an immunoglobulin that is prone to form amyloid. Gastrointestinal amyloidosis without previously diagnosed inflammatory or plasma cell disorders is very rarely seen. It may be found as an isolated entity or as a part of multi-organ involvement. In the gastrointestinal tract, amyloid proteins (irrespective of the type) can deposit in various parts, resulting in a mixture of symptoms of: abdominal pain, dysmotility, diarrhea, liver injury or bleeding. Suspicion of gastrointestinal amyloidosis, irrespective of underlying etiology, always requires a direct biopsy of the part affected. The frequency of amyloid deposition in different anatomic parts of the gastrointestinal tract, in patients with gastrointestinal amyloidosis was established in a case series consisted of 37 patients. The highest frequency was in the duodenum, followed by stomach and colorectum. Some authors suggest that amyloidosis should always be considered in the differential diagnosis of hematemesis and gastric tumors, while others suggest high suspicion of amyloidosis in patients with multiple myeloma and obscure gastrointestinal bleeding.Figure 1Figure 2