A new study has examined the clinical and genetic features of patients with Alagille syndrome (ALGS) and found that one-third were jaundice free and had favorable outcomes.

The study, published in JHG Open, also found that patients with ALGS had less cirrhosis and more problems with growth than patients with biliary atresia.

“One of the most intriguing aspects is the wide variety of hepatic manifestations in ALGS patients,” the authors wrote. “The present study aimed to identify the clinical course and genetic features of ALGS patients with different hepatic-outcome groups. The indication for liver transplant and liver histopathology of ALGS patients were compared with age-matched BA (biliary atresia) patients.”


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The research team conducted a retrospective study of 25 patients with ALGS in Taiwan between 1990 and 2021. Their medical records were analyzed for clinical and demographic data and disease characteristics, and the patients were followed up every 3 to 6 months or more often as needed for a median of 7.3 years. They were divided into two groups: jaundice free and progressive disease.

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Genetic analyses were also performed on 23 of the 25 patients included. An age-matched, 1:2 ratio of patients with biliary atresia was selected and used for comparison.

The result showed that one-third of patients in the jaundice-free group progressed favorably and had longer native liver survival than patients with progressive disease. Fourteen of the patients with progressive disease died or had liver transplantation. Among 22 patients with genetic analyses, there were 18 JAG1 mutations, demonstrating the heterogeneity of this disease.

The authors concluded that for improved patient monitoring, it is essential to identify those patients with ALGS who are at risk of progressive disease and poorer outcomes, which entails genetic analyses and further investigations into the JAG1 mutation and its associated outcomes.

Reference

Chiang C, Jeng Y, Ho M, et al. Different clinical and genetic features of Alagille patients with progressive disease versus a jaundice-free course. JHG Open. Published online October 31, 2022. doi:10.1002/jgh3.12830