Ricardo David Espinosa, MD1, James Gore, DO1, Patt Panuncillon, DO1, Joanna Yuen, DO, MA2, Lydia Bazzano, MD, PhD1 1Ochsner Health Clinic Foundation, New Orleans, LA; 2Ochsner Health Clinic Foundation, Jefferson, LA Introduction: Hereditary Hemorrhagic Telangiectasia (HHT) is a rare autosomal dominant condition that affects around 1-2 per 10,000 people.1 It is a condition characterized by vascular malformations with propensity to bleeding. Most common in middle aged adults, the condition is caused by several different mutations often involving the TGF-B pathway. In this case report, we illustrate HHT caused by the SMAD-4 mutation gene in a young adult which results in a combined clinical entity of HHT and Juvenile Polyposis Syndrome (JPS) which is more rare and only accounts for 1-2% of the HHT.1
Case Description/
Methods: A 23-year-old male presents to the Gastroenterology service for recurrent small bowel intussusception. Patient has a history of recurrent epistaxis since age 1 and a family history in his mother of SMAD-4 mutation and JPS. At age 17, he started with postprandial abdominal pain, anorexia, decreased oral intake, weight loss, and iron-deficiency anemia that progressively worsened, leading to endoscopic evaluations. These revealed multiple gastric, ileal, and rectal polyps. Genetic testing revealed SMAD-4 mutation confirming HHT-JPS. Patient later underwent total abdominal colectomy with ileo-rectal anastomosis, total gastrectomy with esophagojejunal reconstruction with Roux-en-Y anastomosis due to high polyp burden and gastrointestinal bleeding. Patient has been followed up by Hematology with anemia controlled on bevacizumab and intravenous iron replacement.
Discussion: This case displays the importance of multidisciplinary care between Gastroenterology and Hematology among patients with HHS-JPS and SMAD-4 mutation. Surgical interventions were critical to address the malignancy risk and polyp burden by performing gastrectomy and subtotal colectomy. Use of biologic agents such as bevacizumab were critical in controlling the hemorrhages. This case underscores the importance of genetic testing and individualized sub-specialty care for such a complex rare genetic disease.
Disclosures: Ricardo David Espinosa indicated no relevant financial relationships. James Gore indicated no relevant financial relationships. Patt Panuncillon indicated no relevant financial relationships. Joanna Yuen indicated no relevant financial relationships. Lydia Bazzano indicated no relevant financial relationships.
Ricardo David Espinosa, MD1, James Gore, DO1, Patt Panuncillon, DO1, Joanna Yuen, DO, MA2, Lydia Bazzano, MD, PhD1. P0324 - A Complicated Case of Severe Hereditary Hemorrhagic Telangiectasia Requiring Multidisciplinary Care, ACG 2025 Annual Scientific Meeting Abstracts. Phoenix, AZ: American College of Gastroenterology.
