S3362 Hermansky-Pudlak Syndrome: A Rare Cause of Postpolypectomy Bleeding: A Case Report and Review of Literature

INTRODUCTION: Post-polypectomy bleeding (PPB) is one of the most common complications of endoscopic therapy. The rate of PPB to be 0.4% per colonoscopy performed in patients at a high risk of colon polyps. However, the risk of post polypectomy bleeding is higher in patients with bleeding diathesis or platelet dysfunction. Here we report an interesting case of PPB in a patient with bleeding diathesis due to Hermansky-Pudlak syndrome. CASE DESCRIPTION/METHODS: A 68 year old Hispanic man of Puerto Rican descent presented to emergency department with 2 day history of small amount of hematochezia twice daily . One day prior to this event he underwent screening colonoscopy which showed 2 polyps (12 and 14 mm in size) which were removed with the help of a hot snare polypectomy. Post- intervention hemostatic clip and epinephrine were injected. Pathology showed inflammatory polyps. He had medical comorbids of hypertension and Hermansky Pudlak Syndrome . On initial examination in the emergency department, patient was afebrile, with stable vital signs. His abdominal examination revealed no tenderness and digital rectal examination showed brown stool with no hematochezia. Rest of the review of systems and physical examination was unremarkable. Laboratory tests showed a decrease in hemoglobin from a baseline of 13 gm/dl to 11.0 gm/dl. Rest of the laboratory work up was unremarkable. Hematology service was consulted in view of underlying condition and advised to give DDAVP (1-desamino-8-D-arginine vasopressin). Patient was admitted to the medicine floor for observation. He did not have any further episodes of rectal bleeding and his hemoglobin level remained stable during this time. Subsequently he was discharged with outpatient gastroenterology follow up. DISCUSSION: Hermansky-Pudlak syndrome(HPS) is a rare autosomal disorder characterized by oculocutaneous albinism, a bleeding diathesis secondary to platelet dysfunction, and other organ involvement specific to certain types including granulomatous colitis and pulmonary fibrosis. HPS is very uncommon with a prevalence of 1 in 1000,000, However, it is common in Puerto Ricans, affecting approximately 1 in 1,800 people. There is no definitive treatment for HPS. Our goal is to guide the appropriate management of these patients specially perioperatively in major and minor procedures such as routine screening colonoscopies to prevent any adverse events.