P3675 - An Index Case of Hereditary Hemorrhagic Telangiectasia Coexisting With MUTYH-Associated Polyposis Syndrome

Anish Paudel, MD¹, Suravi Khanal, MBBS¹, Sandesh Parajuli, MD², Uchit Thapa, MD³, Kristina Bhattarai, MBBS⁴, Micah Kaiser, DO⁵, Seth Rosenzweig, MD^6
1Reading Hospital - Tower Health, Wyomissing, PA; ²Reading Hospital - Tower Health, Reading, PA; ³Baystate Medical Center, Springfield, MA; ⁴Nepal Medical College, Kathmandu, Bagmati, Nepal; ⁵Reading Hospital - Tower Health, West Reading, PA; ⁶US Digestive Health, West Reading, PA

Introduction: Hereditary hemorrhagic telangiectasia is an autosomal dominant disorder characterized by the formation of hamartomatous polyps in the gastrointestinal tract and multiple arteriovenous malformations. MUTYH-associated polyposis syndrome is an autosomal recessive syndrome that increases one’s risk of developing colorectal cancer, given numerous adenomatous polyps. Although there have been rare case reports of association between HHT and juvenile polyposis syndrome, this is perhaps the index case of combined HHT and MUTYH-associated polyposis in the literature.

Case Description/Methods: A 63-year-old gentleman with a family history of colon cancer underwent a bidirectional endoscopy given concerns for melena and positive fecal occult blood test. He was noted to have multiple non-bleeding AVMs in his stomach to the third portion of the duodenum, as well as in the cecum and ascending colon. He was found to have twelve 3-6 mm sessile-appearing polyps and one 8mm pedunculated polyp throughout his colon. Pathology revealed sessile serrated adenoma and tubular adenoma. Genetic testing showed a pathogenic variant in the ENG gene associated with HHT and MUTYH variant c.1588G >T. The latter variant was clinically relevant, given the patient’s history of recurrent colon polyps.

Discussion: This case highlights whether HHT and MUYTH-associated polyposis syndrome can coexist and if there is some unique association between these two distinct syndromes.



Disclosures:


Anish Paudel, MD¹, Suravi Khanal, MBBS¹, Sandesh Parajuli, MD², Uchit Thapa, MD³, Kristina Bhattarai, MBBS⁴, Micah Kaiser, DO⁵, Seth Rosenzweig, MD⁶. P3675 - An Index Case of Hereditary Hemorrhagic Telangiectasia Coexisting With MUTYH-Associated Polyposis Syndrome, ACG 2024 Annual Scientific Meeting Abstracts. Philadelphia, PA: American College of Gastroenterology.