LewisGale Medical Center Roanoke, VA, United States
Richard Hargrove, DO1, Jane Lindsay, MD1, Roy Meyers, MD2 1LewisGale Medical Center, Roanoke, VA; 2LewisGale Medical Center, Salem, VA
Introduction: Hermansky-Pudlak Syndrome (HPS) is a triad of albinism, platelet dysfunction and the accumulation of a ceroid-like substance in tissue3. It is an extremely rare, autosomal recessive disease with an incidence between 1/500,000-1/1,000,000 person years2. There are 10 known subtypes of HPS with 1, 4, 6 presenting with a granulomatous colitis resembling Crohn’s both clinically and microscopically1. Similar to Crohn’s, the colitis of HPS appears around the second decade of life with colonoscopy revealing many superficial and deep ulcers (Fig. 1)1. Understanding this important disease is crucial for its successful diagnosis and management.
Case Description/Methods: A 36-year-old albino female presented to the ED with worsening, severe abdominal pain for six weeks. She described the pain as constant and sharp with nausea, vomiting and changing bowel characteristics. The reported pain was reminiscent of what she experienced prior to undergoing exploratory surgery in 2017 with omentectomy. Conversation revealed that in her mid-twenties she developed abdominal distress concerning for possible IBD. However, after multiple examinations including colonoscopy, no definitive diagnosis of Crohn’s or UC was made. The patient said at that point, “The only thing left was to try medicine for Crohn’s disease.” She was prescribed Budesonide and Biologics with limited improvement. GI and General Surgery agreed that a second exploratory surgery was appropriate prior to colonoscopy. Adhesion lysis was completed with patient tolerating the procedure well with improvements of her presenting abdominal symptoms.
Discussion: HPS is an extremely rare disease; a physician may manage once in a lifetime. It presents as a unique seditious bowel disorder that macroscopically suggests Ulcerative Colitis but microscopically resembles Crohn’s1. This patient was diagnosed with HPS-1 after genetic testing to identify an etiology for her abdominal distress. The colitis of HPS, having no set management course, was only recently recognized as a manifestation of the disease. Guideline Crohn’s therapy is the attempted option for many HPS patients, but is limited at reaching reemission and is now considered inadequate for many HPS patients. Unfortunately, this therapy remains the best course of treatment due to the similarities of HPS to Crohn’s.
1El-Chemaly et al.,Clin Crest Med,2016,505-511
2Girot et al.,World Journal of Gastroenterology,2019,1031-1036
3Schinella et al.,Annals of Internal Medicine,1980,20-23
Figure: Granulomatous colitis of HPS (El-Chemaly et al)
Richard Hargrove indicated no relevant financial relationships.
Jane Lindsay indicated no relevant financial relationships.
Roy Meyers indicated no relevant financial relationships.
Richard Hargrove, DO1, Jane Lindsay, MD1, Roy Meyers, MD2. P0610 - The Crohn’s Con Artist You’ve Never Heard Of: Hermansky-Pudlak Syndrome, ACG 2021 Annual Scientific Meeting Abstracts. Las Vegas, Nevada: American College of Gastroenterology.