Yianni Protopapadakis, MS, DO1, Grace Hawley, BA2, Subhash C. Gumber, MD, PhD, FACG3 1Prisma Health, Greenville, SC; 2UNC Chapel Hill, Raleigh, NC; 3Raleigh Medical Group Gastroenterology, Cary, NC
Introduction: AL Amyloidosis is a rare condition most often implicating the cardiovascular and renal systems. We report a case of early amyloidosis with isolated rectal involvement discovered incidentally during a routine colonoscopy. Highlighted is the significance of a thorough workup and management of early gastrointestinal amyloidosis.
Case Description/Methods: A 54-year-old male with a history of hypercholesterolemia presented for a screening colonoscopy. He denied any gastrointestinal symptoms or other concerns. During the procedure, two diminutive polyps and Grade II internal hemorrhoids were found. A solitary rectal ulcer with irregular borders measuring 10 X 20 mm was visualized. The ulcer base appeared shiny with yellow, fatty patches and no bleeding.
The ulcer biopsy samples showed rectal mucosa with acellular pink deposits in the lamina propria resembling amyloid which was confirmed via Congo Red stain. Diagnostic EGD and enteroscopy found no UGI lesions and random biopsies throughout were negative. Hematologic work-up revealed AL amyloidosis and an underlying lambda clonal plasma cell dyscrasia. Systemic assessment showed no renal, cardiac, or neurological involvement and abdominal fat pad aspirates were negative.
Repeat colonoscopy, EGD, and enteroscopy performed 2 years after the initial screening found no new lesions or bleeding, but did find enlargement of the ulcer to 20 x 40 mm. Otherwise, there was no involvement of the visualized UGI tract and the patient remains asymptomatic. He has declined bone marrow transplant in favor of serologic and urine markers along with organ-specific surveillance.
Discussion: Most often implicated in primary AL amyloidosis are the cardiac and renal systems, while GI involvement is only seen in about 5% of cases.1 When gastrointestinal AL amyloid occurs, it is more often associated with gastric rather than rectal involvement. 2 Treatment recommendations for AL amyloidosis at an early stage are sparse, with the leading one being bone marrow transplantation. A reasonable alternative is active surveillance for disease progression and systemic involvement. Our case brings to light an unusually early involvement of the GI tract with AL amyloidosis and it’s management dilemma.
1: Ihne S, et al. Amyloidosis-the Diagnosis and Treatment of an Underdiagnosed Disease. 2020; p159-166
2: Yamada M, et al. Gastrointestinal amyloid deposition in AL (primary or myeloma-associated) and AA (secondary) amyloidosis: Diagnostic value of gastric biopsy. 1985; p1206-1211
Figure: A: Solitary rectal mucosal ulceration discovered during routine colonoscopy (10mm x 20mm). B: Repeat imaging of the same solitary rectal ulcer 2 years later (20mm x 40mm). C: Rectal mucosal biopsy with H&E staining demonstrating pink, acellular deposits in the lamina propria consistent with amyloid deposition. (200X) D: Rectal mucosa biopsy with Congo Red staining under polarized light demonstrating "apple-green" birefringence, confirming the presence of amyloid. (200X)
Disclosures: Yianni Protopapadakis indicated no relevant financial relationships. Grace Hawley indicated no relevant financial relationships. Subhash Gumber indicated no relevant financial relationships.
Yianni Protopapadakis, MS, DO1, Grace Hawley, BA2, Subhash C. Gumber, MD, PhD, FACG3. P1234 - A Case of Early Isolated Rectal Amyloidosis on Routine Screening Colonoscopy, ACG 2021 Annual Scientific Meeting Abstracts. Las Vegas, Nevada: American College of Gastroenterology.