P444 Successful allogeneic haematopoietic stem cell transplantation (HSCT) for refractory Paediatric Crohn's Disease without an identifiable genetic mutation - A case report
A. Chebar Lozinsky*, B. Huggett, S. Sider, S. Chadokufa, J. Kammermeier, M. Elawad, F. Kiparissi, N. Shah
Great Ormond Street Hospital, Paediatric Gastroenterology, London, United Kingdom
Remission in several autoimmune diseases has been reported after allogeneic haematopoietic stem cell transplantation (HSCT). There are only a few cases in the literature of curing IBD, following HSCT for coexisting conditions. We report a case of a male patient with severe early-onset Crohn's disease (CD) with no known genetic mutation, who underwent a successful matched unrelated HSCT.
A 9 year old boy born to non-consanguineous parents, diagnosed with ileo-colonic CD aged 4 years. He was initially treated with steroids, Azathioprine and Aminosalicylates over a 2 year period with only partial clinical response. There was no evidence of mucosal healing and the patient remained steroid dependent. At aged 6 year he underwent an emergency right hemi-colectomy with ileostomy formation with no improvement of his symptoms. Additionally his ileostomy prolapsed and ulcerated, causing him severe pain and bleeding. Infliximab was prescribed with some clinical response, but anaphylaxis led to a switch to Adalimumab. Although there was again some improvement, his symptoms persisted. The chronic use of steroids led to the development of severe hypertension, with extremely poor quality of life and poor to no school attendance. He additionally developed arthritis and debilitating pyoderma gangrenosum. Immune deficiencies and exclusions of known genetic mutations for early onset IBD were made. A multidisciplinary team meeting (Immunology, Gastroenterology and BMT) decided to proceed with a HSCT. Pre-transplant endoscopic assessment showed ongoing severe active oesophagitis and chronic colitis.
The patient's pyoderma gangrenosum had healed 3 months post HSTC, an endoscopic assessment revealed only minor increase of intraepithelial cells in the lamina propria in the colon. 9 months post-transplant he was weaning Ciclosporin started for skin graft versus host disease (GvHD). 18 months post-transplant the patient had reconnection surgery with stoma closure. He is clinically well and his last endoscopy assessment showed no significant histological abnormalities. All his immunosuppression medication has been stopped; he has excellent energy levels and is eating a normal diet.
We report a successful allogeneic HSCT for severe refractory CD in a child, with no major complications of HSCT, now being off immunosuppression. We suggest that HSCT is a valid treatment option for patients with refractory CD presenting with poor quality of life, IBD-related complications, immunosuppressive treatment related complications and have exhausted conventional medical therapy. Careful selection of patients and discussion in multi-disciplinary teams is crucial to the success of this intensive treatment.