The clinical manifestations of Alagille syndrome (ALGS) in adults are usually atypical, according to a new study published in the Journal of Clinical and Translational Hepatology.

“Those who do not meet the criteria but are highly suspicious of having [ALGS] need further evaluation, especially genetic testing,” the authors said.

ALGS is rarely reported in adults mostly because the symptoms are mild. However, it is important to improve the understanding of the disease in adult patients.

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Here, a team of researchers conducted a descriptive case series study in 8 adult patients diagnosed with ALGS at the Third Affiliated Hospital of Sun Yat-sen University in Guangzhou, China between June 2016 and June 2019. The team analyzed patients’ clinical data, biochemical results, imaging results, liver histopathology, and genetic test results.

Read more about the diagnosis of ALGS

The results showed that 5 of the patients had adult-onset clinical manifestations and that abnormal liver function was the most common initial symptom. Half of the patients had cholestasis, 62.5% (5 out of 8) had butterfly vertebrae, 1 (12.5%) had systolic murmurs and 1 had typical facies.

Bile duct paucity was not present in some patients and none of them had posterior embryotoxon or renal abnormalities, symptoms that are common in children with the disease.

When they genetically analyzed the patients, the researchers found that they all had mutations either in the JAG1 (4 patients) or NOTCH2 genes (4 patients). Of these, 6 were substitutions, 1 was a deletion, and 1 was a splicing error. Of the mutations, 5 had already been reported in the past. However, 1 JAG1 mutation and 2 NOTCH2 mutations were new and have not been reported elsewhere previously.

Based on the clinical characteristics of the patients, traditional diagnostic criteria are not appropriate for adults with ALGS, the authors concluded. In these patients, the diagnosis should rely more on genetic testing than on clinical features.


Li J, Wu H, Chen S, et al. Clinical and genetic characteristics of Alagille syndrome in adults. J Clin Transl Hepatol. Published online March 17, 2022. doi:10.14218/JCTH.2021.00313