Alagille syndrome (ALGS) is an autosomal dominant disorder which affects 1 in 30,000.  More information is available regarding the outcome of ALGS patients who have undergone liver transplantation (Liver Transpl 2012; 18: 940-48).

Using the SPLIT (studies of pediatric liver transplantation) database, the outcome of 91 ALGS patients was compared with 236 age-matched biliary atresia (BA) patients in a retrospective review (1995-2009).

• 1-year survival was 87% for ALGS and 96% for BA (p=0.002).  Most of the ALGS deaths occurred in the initial 30 days.  No pretransplant factors could be identified which were associated with mortality.
• Renal insufficiency worsened after liver transplantation in ALGS patients with 22% having glomerular filtration rate <90 mL/minute/1.73 meter squared; 8% of BA had similar renal insufficiency.
• ALGS patients were more likely to receive special education: 50% compared to 30% for BA patients.
• Increased mortality risk was not apparent after the 1st year following transplantation.  At 60 months post-transplantation, survival was 86% for ALGS group and 94.4% for BA group.
• One other interesting finding was that 21% of ALGS group had undergone Kasai procedure prior to liver transplantation which may have a detrimental effect on liver outcome.

Since ALGS is a systemic disorder, it is not surprising that outcomes are inferior.  These patients frequently have a wide range of heart disease, renal dysfunction, and vascular disorders, including risk for intracranial hemorrhage.  In this series, intracranial hemorrhage occurred in one patient in each group.  It is noted that chidren with ALGS did have a vascular complication in 21% in the first 30 days after transplantation.

Information on Alagille:

There is family-oriented information on the ChiLDREN website.
http://childrennetwork.org/

There is also an Alagille Syndrome Alliance website.
http://www.alagille.org/

Additional Alagille references:

• -JPGN 2010; 50: 11. Alagille Syndrome and Liver Transplantation
• -JPGN 2011; 52: 84. King’s College experience.n=117.  HIDA scan w/o excretion in 60%.
• -JPGN 2010;  51: 319.  Kasai procedure likely worsens outcome. N=19 out of 430 cohort.
• -JPGN 2010; 50: 526.  TB >6.5, DB >4.5 & cholesterol >520 indicate likely severe liver dz in infancy & should be referred.
• -JPGN 2010; 51:66.  Frequent bone fractures (esp LE), with peak age ~5yrs.
• -Gastorenterol Clin N Am; 2003; 32: 857-75.  “Heritable disorders of the bile ducts” Kamath BM, Piccoli DA
• -JPGN 2008; 47: 623. Urso may help c milder dz. n=42.
• -JPGN 2005; 41: 676.  Increased risk of HCC.
• -NASPGHAN 2003:  Can place peg-like tube in gallbladder for biliary diversion (done at CHOP)
• -Pediatrics 2003; 111: 167-70.  Increased bleeding episodes, 38 of 174pts had bleeding complication; lethal in 4 pts
• -Hepatology 2002; 35: 1501-6.  Review of partial biliary diversion for Alagille.
• NASPGHAN 2009, Postgraduate course, pg 51.  95% c JAG1mutation identifiable with commercial lab (others c NOTCH2 mutation can be identified in research lab)