Benign recurrent intrahepatic cholestasis

Title

Other Names:

BRIC; Summerskill-Walshe-Tygstrup syndrome

Subtypes:

Benign recurrent intrahepatic cholestasis 1; Benign recurrent intrahepatic cholestasis 2

Summary Summary

Benign recurrent intrahepatic cholestasis (BRIC) is a rare condition that affects the liver. People with this condition experience episodes of cholestasis, during which the liver cells have a reduced ability to release bile (a digestive fluid). Episodes generally begin in the late teens or early twenties and may be accompanied by jaundice, severe itchiness, a vague feeling of discomfort (malaise), irritability, nausea, vomiting, and a lack of appetite. There are two forms of BRIC which are classified based on the genetic cause of the condition. BRIC1 is caused by changes (mutations) in the ATP8B1 gene and BRIC2 is caused by mutations in the ABCB11 gene. Both follow an autosomal recessive pattern of inheritance.^[1] Treatment of BRIC may include medications to manage symptoms and specialized therapies (i.e. nasobiliary drainage) to shorten episodes.^[2]^[3]

Last updated: 10/11/2016

Symptoms 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.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Acholic stools	Clay colored stools	0011985
Anorexia		0002039
Cholestatic liver disease		0002611
Elevated hepatic transaminase	High liver enzymes	0002910
Fatigue	Tired Tiredness [ more ]	0012378
Jaundice	Yellow skin Yellowing of the skin [ more ]	0000952
Pruritus	Itching Itchy skin Skin itching [ more ]	0000989
Weight loss		0001824
30%-79% of people have these symptoms
Nausea and vomiting		0002017
5%-29% of people have these symptoms
Abdominal pain	Pain in stomach Stomach pain [ more ]	0002027
Cholelithiasis	Gallstones	0001081
Chronic diarrhea		0002028
Cirrhosis	Scar tissue replaces healthy tissue in the liver	0001394
Hearing impairment	Deafness Hearing defect [ more ]	0000365
Hepatocellular carcinoma		0001402
Pancreatitis	Pancreatic inflammation	0001733

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Last updated: 2/1/2021

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Related Diseases Related Diseases

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnoses include drug-induced cholestatic disease as well as intrahepatic cholestasis of pregnancy, primary biliary cirrhosis and primary sclerosing cholangitis (see these terms). BRIC can be differentiated from PFIC on the basis of the disease course and liver histology. Visit the Orphanet disease page for more information.

Organizations 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

American Liver Foundation
39 Broadway, Suite 2700
New York, NY 10006
Toll-free: +1-800-465-4837
Telephone: +1-212-668-1000
E-mail: https://liverfoundation.org/for-patients/contact-us/
Website: https://liverfoundation.org/

Do you know of an organization? We want to hear from you.

Learn More 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

MedlinePlus Genetics contains information on Benign recurrent intrahepatic cholestasis. This website is maintained by the National Library of Medicine.
The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

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.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

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