Intrahepatic cholestasis of pregnancy

What causes intrahepatic cholestasis of pregnancy?

Largely, the cause of intrahepatic cholestasis of pregnancy (ICP) is unknown. ICP is present in approximately 1% of pregnancies in the United States. It is thought to be caused by a mixture of genetic, hormonal, and environmental factors. Risk factors include:

  • A personal or family history of cholestasis of pregnancy
  • A history of liver disease
  • A multiple gestation pregnancy (twins, triplets, etc)

Approximately 15% of women with ICP have a mutation in either the ABCB11 or ABCB4 gene. Mutations within these genes increase the likelihood that a woman will develop ICP. Mutations within the ABCB11 and ABCB4 gene(s) are inherited in an autosomal dominant manner. This means that in order to be affected, a person only needs a change in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations within the gene. A person with a mutation in either the ABCB11 or ABCB4 gene has a 50% chance with each pregnancy of passing along the altered gene to his or her child.

Last updated on 05-01-20

How is intrahepatic cholestasis of pregnancy diagnosed?

Intrahepatic cholestasis of pregnancy (ICP) is suspected during pregnancy when symptoms of itching (pruritis) 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.

Last updated on 05-01-20

Is genetic testing available for intrahepatic cholestasis of pregnancy?

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.

The Genetic Testing Registry (GTR), a resource from the National Center for Biotechnology, offers a listing of laboratories that perform genetic testing for intrahepatic cholestasis of pregnancy. For more information, click on the link.

Last updated on 05-01-20

How might intrahepatic cholestasis of pregnancy be treated?

Treatment for intrahepatic cholestasis of pregnancy aims to relieve itching and prevent complications. Medications utilized to relieve itching might include ursodiol (Actigall, Urso), which helps decrease the level of bile in the mother's bloodstream, relieves itchiness and may reduce complications for the baby. To prevent pregnancy complications, close monitoring of the baby might be recommended. Even if prenatal tests appear normal, induction of early labor might be recommended.

Last updated on 05-01-20

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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