Telling our 4-year-old that she has familial ‘tummy trouble’
I’ve often wondered how and when we’ll tell our daughter Eva that she has progressive familial intrahepatic cholestasis (PFIC), a rare liver disease. Most…
Cholestasis
Focus of World Liver Day this April 19 is role of diet in liver health
Supporters are gearing up for World Liver Day on April 19 — marked by a global campaign to raise awareness about liver health and…
FDA approves Livmarli oral tablets for PFIC, Alagille
The U.S. Food and Drug Administration (FDA) has approved an oral tablet formulation of Livmarli (maralixibat) to treat progressive familial intrahepatic cholestasis (PFIC)…
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,…
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…
