Ajay Tambe, MBBS1, Anuj Sharma, MD2, Divey Manocha, MD3
1SUNY Upstate Medical Center, Syracuse, NY; 2State University of New York Upstate Medical Center, Syracuse, NY; 3SUNY Upstate Medical University, Syracuse, NY
Introduction: Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder with a prevalence of 1 in 1,800 in Puerto Rico. It is characterized by oculocutaneous albinism with nystagmus, variable skin hypopigmentation, loss of visual acuity, and platelet storage pool deficiency resulting in bleeding diathesis. Hematochezia in HPS primarily occurs due to inflammatory bowel disease (IBD) presenting in first to third decades. However, lower gastrointestinal bleeding can occur even without evidence of endoscopic or histological findings of colitis.
Case Description/Methods: A 20-year-old Puerto Rican male with history of HPS presented with 3 to 5 episodes of bright red blood per rectum for the past one week. The patient has been experiencing intermittent hematochezia since the age of 7 years. Previous work-up with double balloon enteroscopy 4 years ago showed small bowel erosions. Colonoscopy performed during that time showed normal findings, however biopsy was not performed. Meckel’s scan did not show any evidence of Meckel’s diverticulum. He did not experience any bleeding for 2 years before this presentation.
His vital signs on presentation were stable. Laboratory findings showed hemoglobin of 13 gm/dl, platelet count of 330,000/ul and white blood cell count of 8,900/µL. International normalized ratio (INR) was 1.1, prothrombin time (PT) 14.6 seconds and partial thromboplastin time (PTT) 32.3 seconds. The patient was started on intravenous fluids, pantoprazole infusion and was given one dose of aminocaproic acid. Following the dose of amino-caproic acid, the patient’s hematochezia resolved and he did not have any recurrent bleeding episodes. He was discharged after 3 days, and followed up one month later, when he did not report of recurrent bleeding episodes.
Discussion: Previous studies have shown that mucosal inflammation can occur in absence of endoscopic abnormalities in symptomatic patients. The likely cause of hematochezia in our patient was mucosal inflammation along with platelet dysfunction. Patients with mild intermittent episodes of hematochezia can be managed conservatively. For acute bleeding episodes, desmopressin acetate (DDAVP) or aminocaproic acid can be used and in case of severe bleeding, platelet transfusion should be performed.
Citation: Ajay Tambe, MBBS; Anuj Sharma, MD; Divey Manocha, MD. P0442 - RECURRENT LOWER GASTROINTESTINAL BLEEDING SECONDARY TO HERMANSKY-PUDLAK SYNDROME. Program No. P0442. ACG 2019 Annual Scientific Meeting Abstracts. San Antonio, Texas: American College of Gastroenterology.