What are the other Names for this Condition? (Also known as/Synonyms)

• Gravidic Intrahepatic Cholestasis
• Pregnancy-Related Cholestasis
• Recurrent Intrahepatic Cholestasis of Pregnancy (RICP)

What is Intrahepatic Cholestasis of Pregnancy? (Definition/Background Information)

• Intrahepatic Cholestasis of Pregnancy (ICP) is a disorder of the liver that occurs in women during pregnancy. Cholestasis is a condition that impairs the release of bile (a digestive juice) from liver cells. The bile then builds up in the liver, impaired liver function
• Symptoms typically become apparent in the third trimester of pregnancy and can include severe itching (pruritus). Occasionally, the skin and the whites of the eyes can have a yellow appearance (jaundice)
• ICP is additionally associated with risks to the developing baby such as premature delivery and stillbirth. The cause of ICP is largely unknown, although approximately 15% of cases are caused by mutations in either the ABCB11 or ABCB4 genes. Mutations within the ABCB11 and ABCB4 genes are inherited in an autosomal dominant manner
• Symptoms of Intrahepatic Cholestasis of Pregnancy are typically limited to pregnancy. Bile flow returns to normal after delivery and the signs and symptoms of the condition disappear, however, they can return during later pregnancies

(Source: Intrahepatic Cholestasis of Pregnancy; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

Who gets Intrahepatic Cholestasis of Pregnancy? (Age and Sex Distribution)

• Intrahepatic Cholestasis of Pregnancy is a rare disorder that may occur in pregnant women
• The presentation of symptoms may occur during the third trimester of pregnancy
• Worldwide, individuals of all racial and ethnic groups may be affected
• In the United States, about 1% of pregnant women develop this condition

What are the Risk Factors for Intrahepatic Cholestasis of Pregnancy? (Predisposing Factors)

The risk factors for Intrahepatic Cholestasis of Pregnancy may include:

• A positive family history of the condition, since ICP is inherited in about 15% of cases
• Personal history of ICP in a previous pregnancy
• Presence of liver diseases
• Multiple pregnancy (carrying more than one fetus)

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Intrahepatic Cholestasis of Pregnancy? (Etiology)

• Largely, the cause of Intrahepatic Cholestasis of Pregnancy is unknown. It is thought to be caused by a mixture of genetic, hormonal, and environmental factors
• Approximately 15% of women with ICP have a mutation in either the ABCB11 or ABCB4 gene. Mutations within the ABCB11 and ABCB4 gene(s) are inherited in an autosomal dominant manner

(Source: Intrahepatic Cholestasis of Pregnancy; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

Autosomal dominant mode of inheritance: Autosomal dominant conditions are traits or disorders that are present when only one copy of the mutation is inherited on a non-sex chromosome. In these types of conditions, the individual has one normal copy and one mutant copy of the gene. The abnormal gene dominates, masking the effects of the correctly function gene. If an individual has an autosomal dominant condition, the chance of passing the abnormal gene on to their offspring is 50%. Children, who do not inherit the abnormal gene, will not develop the condition or pass it on to their offspring.

What are the Signs and Symptoms of Intrahepatic Cholestasis of Pregnancy?

The signs and symptoms of Intrahepatic Cholestasis of Pregnancy may include:

• Abnormal liver function tests during pregnancy
• Fetal distress
• Increased serum bile acid concentration during pregnancy
• Intrahepatic cholestasis
• Jaundice
• Premature birth
• Pruritus

(Source: Intrahepatic Cholestasis of Pregnancy; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How is Intrahepatic Cholestasis of Pregnancy Diagnosed?

• Intrahepatic Cholestasis of Pregnancy is suspected during pregnancy when symptoms of itching (pruritus) present after 25 weeks of gestation with absence of a rash or underlying maternal liver disease. The diagnosis is typically confirmed with the finding of elevated serum bile acids
• In the presence of a family history of intrahepatic cholestasis of pregnancy (ICP) and/or known mutations in either the ABCB11 or ABCB4 genes, genetic testing is available

(Source: Intrahepatic Cholestasis of Pregnancy; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Intrahepatic Cholestasis of Pregnancy?

The complications of Intrahepatic Cholestasis of Pregnancy may include:

• Premature delivery
• Stillbirth

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Intrahepatic Cholestasis of Pregnancy Treated?

Treatment for Intrahepatic Cholestasis of Pregnancy aims to relieve itching and prevent complications. The treatment methods may include:

• Medications to relieve itching, which help decrease the level of bile in the mother's bloodstream, relieve itchiness and may reduce complications for the baby
• Close monitoring of the baby to prevent pregnancy complications

Even if prenatal tests appear normal, induction of early labor might be recommended.

(Source: Intrahepatic Cholestasis of Pregnancy; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How can Intrahepatic Cholestasis of Pregnancy be Prevented?

Currently, Intrahepatic Cholestasis of Pregnancy may not be preventable, if it is inherited.

• Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
• If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
• If there is a pre-existing liver condition, seeking medical attention for that disorder prior to planning a baby may be advisable
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders

Regular medical screening at periodic intervals with tests and physical examinations are recommended.

What is the Prognosis of Intrahepatic Cholestasis of Pregnancy? (Outcomes/Resolutions)

• The prognosis of Intrahepatic Cholestasis of Pregnancy is dependent upon the severity of signs and symptoms and associated complications, if any
• Generally, the symptoms in an affected woman resolve soon after the baby’s birth
• However, severe complications may lead to adverse outcomes for both mother and child, including premature labor and delivery as well as stillbirth

Additional and Relevant Useful Information for Intrahepatic Cholestasis of Pregnancy:

Intrahepatic Cholestasis of Pregnancy is also known by the following names:

• Familial Intrahepatic Cholestasis of Pregnancy
• Familial Recurrent Intrahepatic Cholestasis of Pregnancy

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/