Shivantha Amarnath, MD, BSc (Hons), MRSB1, Danial Daneshvar, MD2, Asuzu Ifeyinwa, MD2, Oana Rosca, MD2, Liliane Deeb, MD, FACG1 1Staten Island University Hospital, New York, NY; 2Staten Island University Hospital, Staten Island, NY
Introduction: The gastrointestinal (GI) tract is the fourth commonly involved organ system in primary systemic amyloidosis (PSA) after the bone marrow, kidney and heart and is only clinically apparent in 1% of cases. Symptoms are target site-dependent and carries a grave prognosis as GI involvement is diagnosed later in life. Although PSA involves both the upper and lower GI tract, the esophagus is infrequently involved. Esophageal endoscopic findings range from superficial erosions to stenosis of the distal esophagus. We present a rare case of a middle-aged male diagnosed with PSA with isolated upper GI tract involvement and evidence of an esophageal mass and infiltration of the ampullary orifice.
Case Description/Methods: 47-year-old diabetic male presented with episodes of intermittent, diffuse abdominal pain associated with early satiety, non-bilious, non-bloody vomiting and weight loss of 50 pounds over the past four months. Initial workup was notable for an elevated white blood count of 18 K/uL, ALP of 123 U/L and GGT of 144 U/L. Abdominal sonogram followed by CT of the abdomen/pelvis demonstrated a homogenously enlarged spleen of 15.7 cm and an unremarkable hepato-biliary system. Endoscopy revealed an exophytic, non-obstructive, non-bleeding 2 cm mass at the gastroesophageal junction and a prominent major papilla. H&E slides from the mass biopsies showed distorted squamocolumnar mucosa and deposits of amorphous eosinophilic material. Congo red staining showed apple-green birefringence under polarized light. Similar findings were noted in ampullary biopsies. Analysis with liquid chromatography-tandem mass spectrometry revealed a peptide profile consistent with AL (lambda) sub-type. Immunohistochemistry and bone marrow biopsy showed elevated lambda plasma cells and supported the diagnosis of PSA. Colonoscopy was unrevealing for biopsy-proven evidence of amyloidosis of the lower GI tract and additional workup demonstrated cardiac amyloid involvement. Patient was diagnosed with AL systemic amyloidosis involving the spleen, upper GI tract, and heart. He was started on chemotherapy with Cyclophosphamide, Bortezomib & Dexamethasone. After four cycles of treatment, patient had notable improvement in his symptoms and laboratory markers.
Discussion: Our case emphasizes that in the absence of the typical presentation of amyloidosis, clinicians should have a high suspicion for amyloidosis for any upper GI symptom combined with red-flags such as weight loss or bleeding as the initial presentation in any age group.
Figure: FIGURE 1: Endoscopic view of the esophagus with evidence of a 2 cm exophytic, non-obstructive mass at the gastro-esophageal junction (A). Endoscopic view of the duodenum with an enlarged major papilla (B). Gastro-esophageal junction mucosa with extracellular amorphous eosinophilic deposits showing positive Congo red staining. (Congo red stain, X100) (C). Apple-green birefringence under polarized light, confirming the amyloid deposits in the Gastro-esophageal junction mucosa (D).
Disclosures: Shivantha Amarnath indicated no relevant financial relationships. Danial Daneshvar indicated no relevant financial relationships. Asuzu Ifeyinwa indicated no relevant financial relationships. Oana Rosca indicated no relevant financial relationships. Liliane Deeb indicated no relevant financial relationships.
Shivantha Amarnath, MD, BSc (Hons), MRSB1, Danial Daneshvar, MD2, Asuzu Ifeyinwa, MD2, Oana Rosca, MD2, Liliane Deeb, MD, FACG1. P2437 - An Uncommon Cause of an Esophageal Mass: Expect the Unexpected!, ACG 2021 Annual Scientific Meeting Abstracts. Las Vegas, Nevada: American College of Gastroenterology.