Introduction: Advances in genetic sequencing have transformed the understanding of cholestatic liver diseases. Conditions once considered exclusive to children are now recognized in adolescents and adults, with genetic variants increasingly explaining unexplained cholestasis, recurrent pruritus, and gallstone disease.
Introduction:
Advances in genetic sequencing have transformed the understanding of cholestatic liver diseases. Conditions once considered exclusive to children are now recognized in adolescents and adults, with genetic variants increasingly explaining unexplained cholestasis, recurrent pruritus, and gallstone disease.
Why was this review needed?
The widespread availability of affordable genetic testing has uncovered pathogenic variants in adults with cholestatic liver disease. Identifying these variants has important implications for diagnosis, prognosis, family screening, and selection of emerging targeted therapies.
What did the review show?
Clinical Impact:
Genetic evaluation is becoming an essential component of adult cholestatic liver disease rather than a test reserved for rare pediatric disorders. Integrating genomic information into routine hepatology practice enables earlier diagnosis and more individualized therapy.
Take-Home Message:
Adult cholestatic liver disease is increasingly recognized as a spectrum of inherited disorders. Genetic testing can identify the underlying cause, guide precision treatment, and improve patient outcomes, making genomics an integral part of modern hepatology.
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Introduction: Advances in genetic sequencing have transformed the understanding of cholestatic liver diseases. Conditions once considered exclusive to children are now recognized in adolescents and adults, with genetic variants increasingly explaining unexplained cholestasis, recurrent pruritus,...
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