Original Contribution
The American Journal of Gastroenterology (2006) 101, 2090–2095; doi:10.1111/j.1572-0241.2006.00733.x
Granulomatous Enterocolitis Associated with Hermansky-Pudlak Syndrome
Alexis L Grucela MD*,1, Pruthvi Patel MD, MPH*,2, Eric Goldstein MD3, Ron Palmon MD3, David B Sachar MD3 and Randolph M Steinhagen MD4
- 1Departments of Surgery, Mount Sinai Medical Center, New York, New York
- 2Departments of Internal Medicine, Mount Sinai Medical Center, New York, New York
- 3Divisions of Gastroenterology, Mount Sinai Medical Center, New York, New York
- 4Divisions of Colon and Rectal Surgery, Mount Sinai Medical Center, New York, New York
Correspondence: Randolph M Steinhagen, MD, Chief, Division of Colon and Rectal Surgery, Box 1259, Mount Sinai Medical Center, One Gustave L. Levy Place, New York, NY 10029.
*Co-authors
Received 18 January 2006; Accepted 13 April 2006.
Abstract
BACKGROUND:
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder. It consists of a triad of tyrosinase-positive oculocutaneous albinism (Ty-pos OCA), bleeding diathesis resulting from platelet dysfunction, and systemic complications associated with accumulation of ceroid lipofuscin. Many patients are from a small area in northwestern Puerto Rico. HPS has been associated with granulomatous enterocolitis in up to 20% of affected patients. It is not known whether this granulomatous colitis is a part of the syndrome, or represents an independent but associated process, such as Crohn's disease. This colitis can be severe, and has been reported to be poorly responsive to medical therapies including sulfasalazine, mesalamine, steroids, and metronidazole.
CASE REPORT:
We report a series of four patients with refractory enterocolitis in the setting of HPS who were treated at Mount Sinai Hospital between 1998 and 2005. A trial of infliximab was attempted in all four, and produced a complete response in two.
CONCLUSIONS:
Many phenotypic and pathologic similarities exist between granulomatous enterocolitis in HPS and Crohn's disease. However, it is unclear whether the granulomatous enterocolitis in HPS is because of ceroid deposition or reflects the coexistence of Crohn's disease and HPS. The occurrence of ileal involvement and perianal fistulization in our cases suggests that in at least some instances, HPS and Crohn's disease are truly associated.
