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Progressive Familial Intrahepatic Cholestasis (PFIC)

Progressive Familial Intrahepatic Cholestasis (PFIC)

Contact: Melanie Karakaidos
Tel: 0415887414
Email: melanie@pficrdaustralia.org
Website Click here
More info: PFIC (Progressive Familial Intrahepatic Cholestasis) sometimes referred to as BRIC (Benign Recurrent Intrahepatic Cholestasis). PFIC and BRIC are the same genetically. Intrahepatic: involves disease inside the liver
Cholestasis: means poor bile flow and build-up of substances in the liver that would normally be carried out of the liver into bile and then the intestines
FIC can present episodically and sometimes these patients are given the diagnosis of BRIC (Benign Recurrent Intrahepatic Cholestasis)
The hallmark feature of PFIC is an incessant and unbearable itch
There are six and counting ‘types’ of PFIC
Type 1 (FIC1, ATP8B1)
Type 2 (BESP, ABCB11)
Type 3 (MDR 3, ABCB4)
Type 4 (TJP2)
MYO5B
FXR

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