SIGN IN YOUR ACCOUNT TO HAVE ACCESS TO DIFFERENT FEATURES

FORGOT YOUR PASSWORD?

FORGOT YOUR DETAILS?

AAH, WAIT, I REMEMBER NOW!
24/7 HELPLINE (903) 212-7500
  • PATIENT PORTAL LOGIN

PhyNet Health PhyNet Health

  • Home
  • Find a Clinic
    • Hughes Springs, TX
    • Longview, TX
    • Jefferson, TX
    • Kilgore, TX
    • Lindale, TX
    • Linden, TX
    • Gladewater, TX
    • Lone Star, TX
    • Tatum, TX
    • Marshall, TX
  • Health Services
    • Primary Care Services
    • Physical Therapy / Rehab
    • Allergy Testing & Treatment
    • Chronic Care Management
    • Remote Monitoring Program
    • Virtual Visit
  • Resources
    • MedlinePlus Wiki
      • Health Topics
    • Home Health Coordination
    • Transitions of Care
    • Insurance Help
  • About Phynet
    • About Phynet
    • PhyNet News
    • Better Together Stories
    • Careers
  • Billing

Health Topics

Skip navigation

An official website of the United States government

Here’s how you know

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( Lock Locked padlock icon ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

National Institutes of Health National Library of Medicine
MedlinePlus Trusted Health Information for You
  • Health Topics
  • Drugs & Supplements
  • Genetics
  • Medical Tests
  • Medical Encyclopedia
  • About MedlinePlus
  • About MedlinePlus
  • What's New
  • Site Map
  • Customer Support
  • Health Topics
  • Drugs & Supplements
  • Genetics
  • Medical Tests
  • Medical Encyclopedia
You Are Here:
Home →
Genetics →
Genetic Conditions →
Benign recurrent intrahepatic cholestasis
URL of this page: https://medlineplus.gov/genetics/condition/benign-recurrent-intrahepatic-cholestasis/

Benign recurrent intrahepatic cholestasis

Description

Benign recurrent intrahepatic cholestasis (BRIC) is characterized by episodes of liver dysfunction called cholestasis. During these episodes, the liver cells have a reduced ability to release a digestive fluid called bile. Because the problems with bile release occur within the liver (intrahepatic), the condition is described as intrahepatic cholestasis. Episodes of cholestasis can last from weeks to months, and the time between episodes, during which there are usually no symptoms, can vary from weeks to years.

The first episode of cholestasis usually occurs in an affected person's teens or twenties. An attack typically begins with severe itchiness (pruritus), followed by yellowing of the skin and whites of the eyes (jaundice) a few weeks later. Other general signs and symptoms that occur during these episodes include a vague feeling of discomfort (malaise), irritability, nausea, vomiting, and a lack of appetite. A common feature of BRIC is the reduced absorption of fat in the body, which leads to excess fat in the feces (steatorrhea). Because of a lack of fat absorption and loss of appetite, affected individuals often lose weight during episodes of cholestasis.

BRIC is divided into two types, BRIC1 and BRIC2, based on the genetic cause of the condition. The signs and symptoms are the same in both types.

This condition is called benign because it does not cause lasting damage to the liver. However, episodes of liver dysfunction occasionally develop into a more severe, permanent form of liver disease known as progressive familial intrahepatic cholestasis (PFIC). BRIC and PFIC are sometimes considered to be part of a spectrum of intrahepatic cholestasis disorders of varying severity.

Frequency

BRIC is a rare disorder. Although the prevalence is unknown, this condition is less common than the related disorder PFIC, which affects approximately 1 in 50,000 to 100,000 people worldwide.

Causes

Mutations in the ATP8B1 gene cause benign recurrent intrahepatic cholestasis type 1 (BRIC1), and mutations in the ABCB11 gene cause benign recurrent intrahepatic cholestasis type 2 (BRIC2). These two genes are involved in the release (secretion) of bile, a fluid produced by the liver that helps digest fats.

The ATP8B1 gene provides instructions for making a protein that helps to control the distribution of certain fats, called lipids, in the membranes of liver cells. This function likely plays a role in maintaining an appropriate balance of bile acids, a component of bile. This process, known as bile acid homeostasis, is critical for the normal secretion of bile and the proper functioning of liver cells. Although the mechanism is unclear, mutations in the ATP8B1 gene result in the buildup of bile acids in liver cells. The imbalance of bile acids leads to the signs and symptoms of BRIC1.

The ABCB11 gene provides instructions for making a protein called the bile salt export pump (BSEP). This protein is found in the liver, and its main role is to move bile salts (a component of bile) out of liver cells. Mutations in the ABCB11 gene result in a reduction of BSEP function. This reduction leads to a decrease of bile salt secretion, which causes the features of BRIC2.

The factors that trigger episodes of BRIC are unknown.

Some people with BRIC do not have a mutation in the ATP8B1 or ABCB11 gene. In these individuals, the cause of the condition is unknown.

Learn more about the genes associated with Benign recurrent intrahepatic cholestasis

  • ABCB11
  • ATP8B1

Inheritance

Both types of BRIC are inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Some people with BRIC have no family history of the disorder. These cases arise from mutations in the ATP8B1 or ABCB11 gene that occur in the body's cells after conception and are not inherited.

Other Names for This Condition

  • ABCB11-related intrahepatic cholestasis
  • ATP8B1-related intrahepatic cholestasis
  • BRIC
  • Low gamma-GT familial intrahepatic cholestasis
  • Recurrent familial intrahepatic cholestasis

Additional Information & Resources

Genetic Testing Information

  • Genetic Testing Registry: Benign recurrent intrahepatic cholestasis type 2 From the National Institutes of Health

Genetic and Rare Diseases Information Center

  • Benign recurrent intrahepatic cholestasis type 1 From the National Institutes of Health
  • Benign recurrent intrahepatic cholestasis type 2 From the National Institutes of Health

Patient Support and Advocacy Resources

  • National Organization for Rare Disorders (NORD)

Catalog of Genes and Diseases from OMIM

  • CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 1; BRIC1
  • CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2; BRIC2

Scientific Articles on PubMed

  • PubMed From the National Institutes of Health

References

  • Folmer DE, van der Mark VA, Ho-Mok KS, Oude Elferink RP, Paulusma CC. Differential effects of progressive familial intrahepatic cholestasis type 1 and benign recurrent intrahepatic cholestasis type 1 mutations on canalicular localization of ATP8B1. Hepatology. 2009 Nov;50(5):1597-605. doi: 10.1002/hep.23158. Citation on PubMed
  • Kagawa T, Watanabe N, Mochizuki K, Numari A, Ikeno Y, Itoh J, Tanaka H, Arias IM, Mine T. Phenotypic differences in PFIC2 and BRIC2 correlate with protein stability of mutant Bsep and impaired taurocholate secretion in MDCK II cells. Am J Physiol Gastrointest Liver Physiol. 2008 Jan;294(1):G58-67. doi: 10.1152/ajpgi.00367.2007. Epub 2007 Oct 18. Citation on PubMed
  • Klomp LW, Vargas JC, van Mil SW, Pawlikowska L, Strautnieks SS, van Eijk MJ, Juijn JA, Pabon-Pena C, Smith LB, DeYoung JA, Byrne JA, Gombert J, van der Brugge G, Berger R, Jankowska I, Pawlowska J, Villa E, Knisely AS, Thompson RJ, Freimer NB, Houwen RH, Bull LN. Characterization of mutations in ATP8B1 associated with hereditary cholestasis. Hepatology. 2004 Jul;40(1):27-38. doi: 10.1002/hep.20285. Citation on PubMed
  • Lam P, Pearson CL, Soroka CJ, Xu S, Mennone A, Boyer JL. Levels of plasma membrane expression in progressive and benign mutations of the bile salt export pump (Bsep/Abcb11) correlate with severity of cholestatic diseases. Am J Physiol Cell Physiol. 2007 Nov;293(5):C1709-16. doi: 10.1152/ajpcell.00327.2007. Epub 2007 Sep 13. Citation on PubMed
  • Luketic VA, Shiffman ML. Benign recurrent intrahepatic cholestasis. Clin Liver Dis. 2004 Feb;8(1):133-49, vii. doi: 10.1016/S1089-3261(03)00133-8. Citation on PubMed
Enlarge image

Related Health Topics

  • Genetic Disorders
  • Jaundice
  • Liver Diseases

MEDICAL ENCYCLOPEDIA

  • Cholestasis
  • Genetics

Understanding Genetics

  • What is the prognosis of a genetic condition?
  • How can gene variants affect health and development?
  • What does it mean if a disorder seems to run in my family?
  • What are the different ways a genetic condition can be inherited?
  • How are genetic conditions treated or managed?

Disclaimers

MedlinePlus links to health information from the National Institutes of Health and other federal government agencies. MedlinePlus also links to health information from non-government Web sites. See our disclaimer about external links and our quality guidelines.

The information on this site should not be used as a substitute for professional medical care or advice. Contact a health care provider if you have questions about your health.

  • About MedlinePlus
  • What's New
  • Site Map
  • Customer Support
  • Subscribe to RSSRSS
  • Connect with NLM
  • NLM Web Policies
  • Copyright
  • Accessibility
  • Guidelines for Links
  • Viewers & Players
  • HHS Vulnerability Disclosure
  • MedlinePlus Connect for EHRs
  • For Developers
National Library of Medicine 8600 Rockville Pike, Bethesda, MD 20894 U.S. Department of Health and Human Services National Institutes of Health
Last updated April 1, 2012
Return to top

Patients

  • Find a Clinic
  • Health Services
  • Complex Case Management
  • MA / Medicare Assistance

Quick Links

  • Billing Information
  • Careers
  • About Phynet
  • PhyNet News

Network Links

  • PrimeCareHomeHealth.com
  • PrimeCareNet.com
  • PrimeCareManagers.com
  • Core-Rehab.com

Home Office

4002 Technology Center Longview TX 75605
Phone: (903) 247-0484
Fax: (903) 247-0485
[email protected]
  • PrimeCareHomeHealth.com
  • PrimeCareNet.com
  • PrimeCareManagers.com
  • Core-Rehab.com
  • GET SOCIAL

© 2021 PhyNet Health • All rights reserved
YOUR LIFE. YOUR CHOICE.

TOP