PFIC caused by USP53 usually mild form of liver disease: Study
Progressive familial intrahepatic cholestasis (PFIC) caused by mutations in the USP53 gene results in a fairly mild form of the disease, with most of…
Cholestasis
Medical play specialists saved the day for our daughter
We had a breakthrough this week with our 4-year-old daughter, Eva, who has progressive familial intrahepatic cholestasis (PFIC). I think we’ve finally found the…
Early-onset pregnancy cholestasis increases risk of diabetes: Study
Women diagnosed with intrahepatic cholestasis of pregnancy (ICP) before 24 weeks of gestation, or about six months, are significantly more likely to develop gestational…
Excessive copper in PFIC3 may lead to misdiagnosis: Case report
Excessive copper levels in the body led to an initial misdiagnosis of Wilson disease, a rare condition marked by copper buildup in the liver and…
New ABCB11 mutation linked to PFIC2, hypothyroidism in boy
A new ABCB11 gene mutation was the likely cause of progressive familial intrahepatic cholestasis type 2 (PFIC2) in a boy who was also born with…
IVF linked to higher rates of cholestasis pregnancy complication
Women who conceive with the help of in vitro fertilization (IVF) — a commonly used assisted reproductive technology — are almost three times more likely…
Case study supports efficacy of biliary diversion surgery for PFIC4
Biliary diversion surgery — which can be used in patients with bile duct problems — successfully reduced markers of liver damage, lessened itching, and improved…
Abnormal blood lipid levels linked with ICP, pregnancy complications
Abnormal levels of certain fatty molecules, or lipids, in the blood appear to increase the risk of intrahepatic cholestasis of pregnancy (ICP) and its…
My daughter’s PFIC reminds me why organ donation is important
This year, the U.K.’s National Health Service is marking the 30th anniversary of the establishment of its Organ Donor Register, which was founded to…
New ABCB4 mutation deemed cause of PFIC3 in 2 unrelated girls
A new ABCB4 gene mutation was the likely cause of progressive familial intrahepatic cholestasis type 3 (PFIC3) in two unrelated Southeast Asian girls, a study…
