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Disease Profile

Intrahepatic cholestasis of pregnancy

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

Adult

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ICD-10

O26.6

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Familial intrahepatic cholestasis of pregnancy; ICP; Recurrent intrahepatic cholestasis of pregnancy;

Categories

Digestive Diseases; Female Reproductive Diseases; Lung Diseases

Summary

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, impairing 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 ICP 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.[1][2]

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
5%-29% of people have these symptoms
Autosomal recessive inheritance
0000007
Jaundice
Yellow skin
Yellowing of the skin

[ more ]

0000952
Percent of people who have these symptoms is not available through HPO
Abnormal liver function tests during pregnancy
0200148
Autosomal dominant inheritance
0000006
Elevated hepatic transaminase
High liver enzymes
0002910
Fetal distress
0025116
Increased serum bile acid concentration during pregnancy
0200150
Intrahepatic cholestasis
0001406
Premature birth
Premature delivery of affected infants
Preterm delivery

[ more ]

0001622
Pruritus
Itching
Itchy skin
Skin itching

[ more ]

0000989

Cause

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 orABCB4 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 theABCB11 or ABCB4 gene has a 50% chance with each pregnancy of passing along the altered gene to his or her child.[3][1][2]

Diagnosis

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.[3]

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.[1]

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

 

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

    Treatment

    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.[3]
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    Organizations

    Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

    Organizations Supporting this Disease

      Learn more

      These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

      Where to Start

      • The MayoClinic.com provides information about Intrahepatic cholestasis of pregnancy. Click on the above link to access this information.
      • MedlinePlus Genetics contains information on Intrahepatic cholestasis of pregnancy. This website is maintained by the National Library of Medicine.

        In-Depth Information

        • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
        • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
        • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
        • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
          Intrahepatic cholestasis of pregnancy type 1
          Intrahepatic cholestasis of pregnancy type 3
        • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
        • PubMed is a searchable database of medical literature and lists journal articles that discuss Intrahepatic cholestasis of pregnancy. Click on the link to view a sample search on this topic.

          References

          1. Intrahepatic cholestasis of pregnancy. Genetics Home Reference. May 2015; https://ghr.nlm.nih.gov/condition/intrahepatic-cholestasis-of-pregnancy.
          2. Rigby FB. Intrahepatic Cholestasis of Pregnancy. Medscape. February 24, 2016; https://emedicine.medscape.com/article/1562288-overview.
          3. Cholestasis of Pregnancy. Mayo Clinic. April 16, 2014; https://www.mayoclinic.org/diseases-conditions/cholestasis-of-pregnancy/basics/definition/con-20032985.

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