Cedars-Sinai Medical Center Los Angeles, CA, United States
Yazan Abboud, MD1, Aarshi Vipani, MD1, Srinivas Gaddam, MD1, Stephanie Yagi, DO2, Kevin Waters, MD, PhD1, Ingrid He, MD1, Ali Rezaie, MD, MSc(Epi)3 1Cedars-Sinai Medical Center, Los Angeles, CA; 2Cedars-Sinai Medical Center, West Hollywood, CA; 3Cedars-Sinai Medical Center, Los Anegles, CA
Introduction: Amyloidosis is a condition in which abnormal misfolded proteins deposit in organs. It can target the gastrointestinal (GI) tract resulting in a variety of manifestations. We report a patient with end-stage renal disease (ESRD) of unknown etiology who was diagnosed with amyloidosis on duodenal biopsy.
Case Description/Methods: A 65-year-old male with a past medical history of rheumatoid arthritis and ESRD of unknown etiology on peritoneal dialysis was admitted for evaluation of two months of lethargy and failure to thrive. His physical exam revealed stable vital signs, decreased range of motion of the neck, and ptosis with upward gaze. Labs revealed electrolyte derangements with uremia (BUN of 113 mg/dL) which were attributed to ineffective home dialysis. Since the patient's altered mental status improved with dialysis, his presentation was attributed to uremic encephalopathy. He reported an episode of coffee-ground emesis during the current hospitalization and in the setting of an outside hospital positive RBC nuclear scan, an esophagogastroduodenoscopy was performed. There were thickened duodenal folds and subtle nodularity of the duodenal bulb (Figure 1) which was biopsied. Biopsies were also obtained from the stomach to check for Helicobacter Pylori (HP). Histopathological examination of the bulb biopsies on hematoxylin & eosin revealed amorphous eosinophilic material in the walls of mucosal and submucosal vessels suggestive of amyloid deposition. Congo red staining showed the characteristic salmon-pink coloration and apple-green birefringence under polarized light, confirming the diagnosis. Notably, stomach biopsies were negative for amyloid and HP. Further investigations revealed a previous renal biopsy with amyloid deposits that underwent immunohistochemical staining and were strongly positive for anti-AA(mc1) antibodies consistent with amyloid-A (AA) amyloidosis.
Discussion: Although histologic demonstration of gastrointestinal amyloidosis is rare, previous studies showed the frequency of amyloid to be 100% in the duodenum. In the current case, unusual endoscopic features such as nodularity and thickened intestinal folds prompted tissue biopsy which yielded a diagnosis of amyloidosis. Clinicians should consider the possibility of systemic amyloidosis in patients with ESRD undergoing endoscopic evaluation. Careful endoscopic inspection of the GI tract and duodenal biopsies can aid in clinching the diagnosis of this rare disease to prevent treatment delay and subsequent long-term sequelae.
Figure: Figure 1: Endoscopic image of the duodenal bulb mucosa with subtle nodularity.
Disclosures:
Yazan Abboud indicated no relevant financial relationships.
Aarshi Vipani indicated no relevant financial relationships.
Srinivas Gaddam indicated no relevant financial relationships.
Stephanie Yagi indicated no relevant financial relationships.
Kevin Waters indicated no relevant financial relationships.
Ingrid He indicated no relevant financial relationships.
Yazan Abboud, MD1, Aarshi Vipani, MD1, Srinivas Gaddam, MD1, Stephanie Yagi, DO2, Kevin Waters, MD, PhD1, Ingrid He, MD1, Ali Rezaie, MD, MSc(Epi)3. P2538 - The Role of Endoscopic Examination and Biopsy in the Diagnosis of Systemic Amyloidosis: A Case Report, ACG 2021 Annual Scientific Meeting Abstracts. Las Vegas, Nevada: American College of Gastroenterology.
