Abuse suspected for skin bruising in case of PFIC2 liver disease
An 8-month-old girl with type 2 progressive familial intrahepatic cholestasis (PFIC2) who was seen at a hospital emergency department with extensive skin bruising was suspected…
Cholestasis
Intrahepatic cholestasis of pregnancy risks mothers, newborns
Pregnant women with intrahepatic cholestasis of pregnancy (ICP) have an increased risk of other pregnancy-related problems, including gestational diabetes and preeclampsia, or sudden high…
EMA committee favors approval of Livmarli for PFIC in EU
Note: This story was updated July 9, 2024, to clarify Livmarli is approved in the U.S. for all PFIC forms, but not recommended for a…
Benefits of Livmarli for cholestasis sustained up to 2 years: Trial data
Up to two years of daily treatment with Livmarli (maralixibat) controlled itch and reduced blood levels of bile acids and bilirubin, two markers of…
Blood scores may help with ICP diagnosis, management: Study
Two scores calculated from blood biomarkers can accurately discriminate between pregnant women with intrahepatic cholestasis of pregnancy (ICP) and those without, and predict ICP-associated…
Livmarli benefits seen across PFIC types, trial data show
Treatment with Livmarli (maralixibat) leads to significant clinical benefits for people with progressive familial intrahepatic cholestasis (PFIC) across a wide range of disease…
New mutations tied to rapidly progressing intrahepatic cholestasis
Researchers in China have identified five new mutations in the NR1H4 gene in three boys with progressive familial intrahepatic cholestasis type 5 (PFIC5) and…
Low-dose soybean emulsion may avoid newborn cholestasis: Study
A reduced dose of soybean fat emulsion seems to be better than the standard dose at preventing parenteral nutrition-associated cholestasis in newborns undergoing surgery…
Type of intrahepatic cholestasis shows abnormal cellular processes
The levels of more than 250 proteins are abnormal in lab-grown liver organoids, or mini-livers, derived from a mouse model of progressive familial intrahepatic…
Navigating the unknowns after a diagnosis of PFIC
One difficult thing about a rare disease is that there are so many unknowns, and it’s not always obvious where the answers can be found.
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