Against All Odds: The Unlikely Survival of a 62-year-old With Hermansky-Pudlak Syndrome

Abstract

62 year-old Puerto Rican female with 10-year history of Crohn's-like disease with fistulizing tracts, excessive bleeding with platelet dysfunction, and fibrotic lung disease presented with a 2-day history of diarrhea, bleeding per rectum, and left gluteal tenderness. She had multiple admissions over the past 5 years due to gastrointestinal infections and abscesses complicated by Clostridium difficile colitis. At her last admission 3 months prior, she was treated with multiple antibiotics for colitis but failed a course of Adalimumab, now currently maintained on a regimen of sulfasalazine and prednisone. Her symptomatology led to the diagnosis of HPS five years ago. Physical exam revealed a cachectic albino female with grossly bloody rectal exam. The right gluteus had fistulizing tracts with area of induration and tenderness consistent with an abscess. Significant labs included WBC of 26.4 k/mL with 25% bands and Hg 9.8mg/dL. Due to her history of recurrent C. difficile colitis, she was started on oral vancomycin and IV metronidazole, and cefepime for the abscess. Surgery service performed incision and drainage of the gluteal abscess. Leukocytosis, purulent drainage, and diarrhea improved post-op, however due to recurrent fistulas and high probability of infection, her oral feeds were held and temporarily replaced with TPN to maintain bowel rest. An exploratory laparotomy with diverting ileostomy was completed which led to remarkable clinical improvement. Due to the recurrence of fistulas exclusively in her large intestine and her already prolonged survival with HPS, it was determined that this procedure would greatly increase her quality of life. Patient was soon able to tolerate diet and discharged home without antibiotic treatment. HPS is a rare and progressively debilitating genetic illness that causes multiple pathologies including albinism, pulmonary fibrosis, platelet dysfunction, and granulomatous inflammatory bowel disease. Patients typically are diagnosed in their 3rd to 4th decade and in the absence of lung transplantation, patients generally die from complications of the disease between the ages of 40-50. This is a 62 year-old patient who presented with acute colitis, oculocutaneous albinism, platelet dysfunction, and lung fibrosis for greater than 10 years without undergoing lung transplantation and is currently in stable condition, making her a significant outlier for disease survival.