Cholestasis during pregnancy (Gentics)

Intrahepatic cholestasis of pregnancy (ICP) or pregnancy cholestasis is a liver disease that occurs in some women in late pregnancy. It manifests as severe itching, but without a visible rash.

ICP can cause a temporary decrease in liver function in pregnant women, causing bile to accumulate in the liver and bloodstream. Bile, a substance produced by the liver and stored in the gallbladder, helps break down fats to aid in digestion. Increased bile concentration in the blood can cause itching.

However, pregnancy cholestasis can also cause serious complications for both mother and fetus. To minimize the risk of such complications, the physician will closely monitor the expectant mother during the rest of her pregnancy.

This disease affects about 1-2 out of 1,000 pregnant women. The exact causes of ICP are not yet fully understood, but genetic predisposition, hormonal factors and environmental conditions play a role in its development. Genetic analysis enables early diagnosis of this rare, hereditary form of intrahepatic cholestasis so that appropriate monitoring and therapeutic measures can be initiated.

Genes studied
ABCB4, ABCB11, ATP8B1, ABCC2, NR1H4, TJP2, SLC25A13, TRMU.