The Liver Meeting 2019-Genetic Testing in Adults with Liver Disease: Improving Diagnostic Algorithms

Genetic Testing in Adults with Liver Disease: Improving Diagnostic Algorithms

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The speaker discussed a case of a 32-year-old woman with a heterozygous ABCB4 variant linked to abdominal pain, jaundice, and pruritus. ABCB4 gene mutations underlie various liver conditions, including intrahepatic cholestasis, gallstone disease, and familial cholestasis types. The impact of genetic variants on liver disease severity was explored. Genetic testing can aid diagnosis in severe or recurrent cholestasis cases. Different genes may contribute to diverse liver diseases, emphasizing the importance of identifying the ABCB4 gene. Surveillance and ursodeoxycholic acid therapy are recommended for patients with ABCB4 variants. The challenges of interpreting genetic testing results were highlighted, especially in adult patients. The potential for future therapies, such as ASBT inhibitors, was mentioned as a hopeful area for liver disease treatment advancements.

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Presenter: Verena Keitel

Keywords

ABCB4 variant

liver conditions

genetic testing

cholestasis

ursodeoxycholic acid therapy