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Rare Liver Disease PFIC Affects 1 in 100,000

3/7/2025

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Summary

Story summary

Progressive familial intrahepatic cholestasis (PFIC) is a rare genetic liver disease impacting 1 in 50,000 to 100,000 individuals worldwide. This condition leads to bile buildup, resulting in liver damage and cirrhosis. Symptoms emerge in infancy, often manifesting as jaundice and intense itching. While treatment primarily manages symptoms, many patients will eventually need a liver transplant.

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Story summary

Progressive familial intrahepatic cholestasis (PFIC) is a rare genetic liver disease impacting 1 in 50,000 to 100,000 individuals worldwide. This condition leads to bile buildup, resulting in liver damage and cirrhosis. Symptoms emerge in infancy, often manifesting as jaundice and intense itching. While treatment primarily manages symptoms, many patients will eventually need a liver transplant.