Complicated Crohn's-like colitis, associated with Hermansky-Pudlak syndrome, treated with Infliximab: a case report and brief review of the literature

Abstract

Introduction: Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive inherited disorder consisting of a triad of albinism, increased bleeding tendency secondary to platelet dysfunction, and systemic complications associated with ceroid depositions within the reticuloendothelial system. HPS has been associated with gastrointestinal (GI) complications related to chronic granulomatous colitis with pathologic features suggestive of Crohn's disease. This colitis can be severe and has been reported to be poorly responsive to medical therapies including antibiotics, corticosteroids, sulfasalazine, mesalamine and azathioprine.

Anesthetic Management of a Patient with Hermansky-Pudlak Syndrome

“…Renal impairment has been reported [13]. Furthermore, granulomatous colitis can be severe and refractory to corticosteroids and immunomodulators [16]. Cardiomyopathy has also been described in a small number of patients with HPS [17].…”

Gastrointestinal manifestations in primary immune disorders

“…Chronic infection can result in steatorrhea and villous flattening secondary to trophozoites effacing the mucosa and disrupting the absorptive capacity for lipids and carbohydrates. The extent of mucosal damage appears to Complete blood count!normal platelet count Granulomatous colitis [82][83][84] Coagulation studies!prolonged bleeding time, with abnormal platelet function assays be related to the duration of infection and some epithelial damage may be irreversible. Luminal IgA may play a role in the clearance of this parasite, as studies have shown trophozoites on jejunal biopsy specimens from infected patients that stain positively with fluorescein-conjugated anti-human IgA.…”

“…83 There are a few case reports demonstrating good results using repeated infusions of infliximab for treatment suggesting that TNF-a plays a role in this form of colitis; however, treatment should be used with caution as it may increase the risk for infection in primary immunodeficiency. 84,85 …”

“…82,83 Colitis usually manifests in the first and second decades of disease and can be severe and fatal. 84 It was initially thought that the colitis of HPS is a nonspecific reaction to the tissue deposition of ceroid causing tissue damage and fibrosis, but several other cases of HPS with GI complications related to colitis suggest that it is due to the development of true CD. [85][86][87] Cases reported in the literature are those that have failed medical treatment such as sulfasalazine, mesalamine, metronidazole, and corticosteroids.…”

Heŕmanský–Pudlák syndrome: A case report

“…Heřmanský-Pudlák syndrome colitis is refractory to standard treatment. Immunomodulatory such as infliximab-directed against tumor necrosis factor-a (TNF-a) is shown to be effective in HPS granulomatous colitis [29][30][31]. Heřmanský-Pudlák syndrome is differentiated from oculocutaneous albinism type 1 to 7-ocular albinism, both share skin and ocular manifestations.…”