Recurrent Small Bowel Obstruction and Perforation as a Complication of EFEMP1-Associated Systemic Venous Amyloidosis

Abstract

Abstract Introduction/Objective Amyloidogenic protein EGF-containing fibulin-like extracellular matrix protein 1 (EFEMP1) is a newly described age-related systemic venous amyloidosis. EFEMP1 venous deposition has recently been reported in postmortem gastrointestinal specimens in which the deceased presented with gastrointestinal bleeding. Methods/Case Report We report a case of a 53-year-old female with long-standing seronegative spondylitis, and multiple recurrent small bowel obstructions and perforations status post surgical interventions who presented with 3 days of generalized abdominal pain, 10/10 in severity with nausea, emesis and absence of bowel movement. Abdominal CT scan confirmed closed loop obstruction in the left hemi-abdomen. An emergent partial duodenectomy was performed with extensive lysis of adhesion which revealed a perforated jejunal diverticulum with abscess formation. Microscopic examination demonstrated the presence of eosinophilic, amorphous, acellular material in the venules of the duodenum wall. Congo red stain demonstrating the presence of amyloid deposits and the specimen was sent for amyloid typing. Liquid chromatography tandem mass spectrometry demonstrated a peptide profile consisting of serum amyloid P, apolipoprotein A4, apolipoprotein E, and abundant peptides associated with EFEMP1/FBLN3 consistent with a recently described age-related venous amyloidosis derived from EFEMP1 protein. Results (if a Case Study enter NA) N/A. Conclusion EFEMP1-associated systemic venous amyloidosis has a predilection for females with a median age of 75 years and almost exclusively occurs in the gastrointestinal tract. We report this case for its novelty, unique clinical presentation and to emphasize awareness of this entity as we learn more about its etiology, presentation, management, and prognostication.