Comprehensive overview of progressive familial intrahepatic cholestasis type 3 and the importance of pruritus as a diagnostic clue.

Abstract

This case report illustrates a rare case of progressive familial intrahepatic cholestasis type 3. Pruritus was the predominant symptom that led to the diagnosis of this condition in an otherwise healthy adolescent. The onset of symptoms can happen at any age, and the diagnosis may be delayed due to a lack of severe symptoms. Genetic testing confirms the diagnosis. Therapy with ursodeoxycholic acid is recommended, and other anti-pruritic medications can be adjuvant. Disease progression should be monitored.