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Alagille Syndrome

Study finds high prevalence of sarcopenia in children with genetic intrahepatic cholestasis

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A recent study conducted by the Childhood Liver Disease Research Network has found a high prevalence of severe sarcopenia in school-aged children with genetic intrahepatic cholestasis, particularly in those with chronic intrahepatic cholestasis (CIC) and Alagille syndrome (ALGS). The study found that the lack of correlation between estimated skeletal muscle mass (eSMM) and traditional markers of liver disease suggests that factors beyond cholestasis contribute to sarcopenia in this population.

Although sarcopenia did not predict transplant-free survival, the study emphasizes the need for further research to define the mechanisms of sarcopenia in genetic intrahepatic cholestasis, aiming to improve understanding and potentially develop interventions for affected children.

The research included 127 participants aged 5 to 18 years, encompassing various genetic intrahepatic cholestasis disorders such as bile acid synthesis disorders (BASD), alpha-1 antitrypsin deficiency (a1ATd), CIC and ALGS. Estimated skeletal muscle mass (eSMM) was calculated using dual-energy x-ray absorptiometry.

Children with CIC and ALGS exhibited lower eSMM z-scores compared to those with BASD and a1ATd. Sarcopenia, defined as an eSMM z-score of ≤ -2, was present in 33.3% of CIC and 41.5% of ALGS participants.

The study found correlations between eSMM and bone mineral density in all 4 disease groups. However, no significant correlations were observed between eSMM and traditional clinical markers of liver disease, including serum bile acids, bilirubin, aspartate aminotransferase/platelet ratio index, or clinically evident portal hypertension.

The study also investigated the impact of sarcopenia on transplant-free survival. While severe sarcopenia was identified in some children with ALGS and CIC, the researchers did not find a predictive relationship between eSMM z-scores and transplant-free survival. In addition, the occurrence of liver transplant and death was infrequent among the study participants.

Reference
Boster JM, Goodrich NP, Spino C, et al; Childhood Liver Disease Research Network (ChiLDReN). Sarcopenia is associated with osteopenia and impaired quality of life in children with genetic intrahepatic cholestatic liver disease. Hepatol Commun. 2023;7(11):e0293. doi: 10.1097/HC9.0000000000000293. PMID: 37902507; PMCID: PMC10617863.

Rare Disease 360® is the Official Media Partner and Official Publication of The Alagille Syndrome Alliance (Alagille.org).

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