Abstract
Alagille syndrome (ALGS) is an autosomal dominant disorder, with multisystem involvement, which usually occurs due to Notch signaling pathway defects, mostly due to JAG1 mutation (ALGS type 1), but rarely due to neurogenic locus notch homolog protein (NOTCH2) mutation (ALGS type 2). It was suspected in cases having at least three out of five major clinical criteria: cholestasis with a paucity of the bile duct, congenital cardiac defects, ocular posterior embryotoxon, typical facial features, and skeletal malformation. Till date, no early predictive marker for hepatic outcome in ALGS has found. No genotypic or, phenotype features or correlation could predict the development of endstage liver disease, which poses a unique management challenge. Cases with progressive liver damage, unremitting cholestasis and intractable pruritus often depend on liver transplantation as last resort. The cardiac, and renal status should be well accessed before liver transplant for the better post-transplantation outcome. Most of the clinical manifestations usually improve the following transplant, except any change in stature. The post liver transplantation outcome was usually comparable with other conditions which require liver transplantation as a last resort, but in this disease the effect of long term immunosuppression on other affected systems not evaluated well till date. Therefore long term post transplant prospective study is required to address these issues.How to cite this article: Singh SP, Pati GK. Alagille Syndrome and the Liver: Current Insights. Euroasian J Hepatogastroenterol, 2018;8(2):140-147
Highlights
Alagille syndrome (ALGS) is an autosomal dominant disorder, which may variably involve multiple systems.[1]
Detailed assessment should be done by treating pediatrician or, physician or, gastroenterologist or by all of them and evaluated by doing regular liver function tests, serum lipid profile, coagulation profile, ultrasound abdomen and pelvis, Scintiscan, and liver biopsy in selected cases; detailed cardiac assessment should be done from time to time; regular ophthalmic assessment; renal color Dopplor ultrasound, renal function tests and vertebral X-ray
Cases with ALGS classically presents with intractable pruritus
Summary
Alagille syndrome (ALGS) is an autosomal dominant disorder, which may variably involve multiple systems.[1] One out of 30,000 subjects may have ALGS.[1] In 1969, Alagille et al first reported Alagille syndrome.[2] In 1973, Watson and Miller reported the similar type of cases.[3] Alagille et al once again reported a similar type of cases in 1975.4 it is known as AlagilleāWatson syndrome or arteriohepatic dysplasia due to preferential hepatic and vascular involvement It is usually caused by genetic mutations. In Indian subcontinent only six cases of ALGS reported so far.[15,16] A recent case report from India highlighted the fact that case with ALGS, may have early onset dermatological manifestations and chronic liver disease (CLD), which is an unusual presentation not described in the literature.[16]
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