Background/purpose: Progressive familial intrahepatic cholestasis (Byler's disease) is often characterized by pruritus-induced self-mutilation with minimal response to medical therapy. The causative cholestasis is likely to progress to cirrhosis necessitating transplantation. Partial external biliary diversion has been used with promising results for the jaundice and debilitating pruritus but all the potential complications and aesthetic concerns of long-term stomas attend this approach.
Methods: The authors describe a terminal ileal exclusion that was first developed for patients who had previously undergone cholecystectomy. Over a 3-year period, we identified for study seven children with liver histology characteristic of Byler's disease accompanying a clinical picture of chronic cholestasis without a defined metabolic or anatomic abnormality. The first two patients underwent a cholecystojejunal cutaneous stoma, until now, the recommended treatment for this condition. The third had previously undergone cholecystectomy so an ileocolonic anastomosis was performed excluding the distal 15% of the small bowel. This child had complete relief of pruritus without evidence of diarrhea. Two more terminal ileal exclusions were performed with similar results before standardizing this approach. The authors approximated small intestinal length using Siebert's graph relating crown-heel length to small intestinal length. The midpoint between the mean and one standard deviation below the mean was determined. Fifteen percent of the estimated small bowel length was measured back from the ileocecal valve and then divided using a linear stapling device. A stapled anastomosis was created between the proximal ileum and the cecum, bypassing the terminal ileum.
Results: Four of five children have had relief from their pruritus and self-mutilation with no evidence of diarrhea. Terminal ileal bypass offers a stoma-free, completely reversible "biliary diversion."
Conclusion: Early results on a few patients are promising, but long-term evaluation of growth, development, and liver function and histology is needed before advocating this as the primary therapy for Byler's disease.