Researchers ID mechanism behind severe ABCB11 mutations in PFIC2
Severe mutations in the ABCB11 gene cause progressive familial intrahepatic cholestasis type 2 (PFIC2) by destabilizing the resulting BSEP protein in a specific region,…
Cholestasis
Liver tissue analysis may help ID, distinguish PFIC types: Study
Analyzing the presence of different proteins in liver tissue under a microscope can be used to help diagnose progressive familial intrahepatic cholestasis (PFIC) and…
Livmarli approved in Japan as itching treatment for Alagille, PFIC
Livmarli (maralixibat) has been approved in Japan for the treatment of itching in people with Alagille syndrome and progressive familial intrahepatic cholestasis (PFIC),…
New ABCB4 mutation found to be cause of PFIC3 in young woman
A new mutation in the ABCB4 gene was found to cause progressive familial intrahepatic cholestasis (PFIC) type 3 in a young woman, a case…
Life as a PFIC caregiver is hectic, but I can still make an ‘IMPACT’
I have a confession to make: I’ve been a bad advocate for progressive familial intrahepatic cholestasis (PFIC). OK, maybe I haven’t been a bad…
ABCB4 mutation ID’d as cause of woman’s recurrent cholestasis
A young woman in the U.S. who experienced recurrent cholestasis was later found, with the help of genetic testing, to have a mutation in…
ICP incidence at nearly 3% worldwide, but varies by region
Intrahepatic cholestasis of pregnancy (ICP) is estimated to affect nearly 3% of pregnant women worldwide, with the highest incidence reported in Asia and the…
Researchers develop tool to predict drug-induced cholestasis
Researchers have developed a tool that can distinguish medications that result in cholestasis from those that don’t, based on their effects on key bile…
To test or not to test for PFIC3? Our families face the question.
The ripples of progressive familial intrahepatic cholestasis (PFIC) continue to spread throughout our family, as branches of the family tree are tested to see…
Combo of variants in ABCB4 gene could lead to ICP, study finds
A specific variant in the ABCB4 gene does not cause intrahepatic cholestasis of pregnancy (ICP) on its own, but it may increase the disease’s…
