Cholestasis associated with
Alagille syndrome may, in a few cases, be extremely severe and result in major impairment in the quality of life during early childhood and end up in
cirrhosis eventually. We report the results of
liver transplantation in 12 children with a severe hepatic form of
Alagille syndrome. All children presented with
cholestatic jaundice from birth, peculiar
facies,
stenosis of the peripheral pulmonary artery, and posterior embryotoxon; butterfly-like vertebrae were present in 9 children. At the time of
transplantation (mean age 7 years 10 months) refractory
pruritus was present in 9 children,
xanthoma in 11, and height and weight retardation in 11. Total serum
bilirubin ranged from 116 to 322 mumol/L and total serum
cholesterol from 3.5 to 29 mmol/L. Systolic right ventricular pressure was moderately raised (36 to 48 mmHg) in 5 children; mean
creatinine clearance was 99 ml/min/1.73 m2. Histologic examination of the removed livers showed
cirrhosis, severe annular
fibrosis, and moderate portal
fibrosis in 4 children each. Follow-up in the 11 survivors has ranged from 14 months to 5 1/2 years. All lead normal lives.
Pruritus and
xanthomas disappeared. Increase in height was observed in 8 of the 10 survivors who had growth retardation prior to
transplantation. School level is normal in 4 (median age at LT: 5 yr 9 mo) and below normal in 6 (median age at OLT: 9 yr 9 mo). Liver function tests are normal in 10 children. Mean
creatinine clearance is 101 ml/min/1.73 m2. These results indicate that the quality of life can be considerably improved after
liver transplantation in children with a severe hepatic form of
Alagille syndrome and suggest that it could be carried out before these children attend elementary school.