Ileal exclusion for refractory symptomatic cholestasis in Alagille syndrome

Alagille syndrome (AGS) can result in pruritic self-mutilation and disabling or disfiguring xanthomas. Though external biliary diversion and transplantation have been described for AGS, few data exist for the use of ileal exclusion (IE) in this setting.

Three patients with AGS with symptomatic cholestasis despite maximal medical management underwent IE. In each case, small bowel length was measured and the terminal 15% of ileum was excluded using stapled division and ileocecal anastomosis. Symptom scores were collected after institutional review board approval and are presented here as mean (range). Pruritus and xanthomas were graded as follows: 0 = none, 1 = mild scratching/minimal, 2 = active scratching/moderate, 3 = abrasions/disfiguring, 4 = mutilation/disabling.

Mean follow-up was 30 months (4-45 months). Pruritus score decreased from 3.33 (3-4) to 0.33 (0-1). Xanthoma score decreased from 3.67 (3-4) to 1.67 (1-2). All patients were maintained on nutritional supplements pre- and postoperatively without a change in management. No patients experienced diarrhea or dehydration postoperatively. There were no complications.

Ileal exclusion effectively decreases refractory pruritus and xanthoma burden in AGS. This procedure offers the advantages of reversibility, avoidance of a stoma, and technical ease. Ileal exclusion should be considered for symptomatic AGS refractory to medical management as an alternative to external biliary diversion or liver transplantation.