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Genetic and Rare Diseases Information Center (GARD)

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Benign recurrent intrahepatic cholestasis 1


Other Names for this Disease

  • BRIC1
  • Cholestasis, benign recurrent intrahepatic 1
  • Recurrent familial intrahepatic cholestasis 1
  • Summerskill syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

What is benign recurrent intrahepatic cholestasis 1?

What are the symptoms of benign recurrent intrahepatic cholestasis 1 (BRIC1)?

What causes benign recurrent intrahepatic cholestasis 1 (BRIC1)?

How is benign recurrent intrahepatic cholestasis 1 (BRIC1) inherited?

What is benign recurrent intrahepatic cholestasis 1?

Benign recurrent intrahepatic cholestasis 1 (BRIC1) is characterized by episodes of liver dysfunction called cholestasis, during which the liver cells have a reduced ability to release a digestive fluid called bile. These episodes can last from weeks to months, and the time between them, during which there are usually no symptoms, can vary from weeks to years. Most people with BRIC1 have their first episode of cholestasis in their teens or twenties. Symptoms often present with severe itchiness, followed by yellowing of the skin and whites of the eyes (jaundice) a few weeks later. BRIC1 is caused by mutations in the ATP8B1 gene. This condition is inherited in an autosomal recessive pattern.[1]   

BRIC1 generally does not cause lasting damage to the liver. However, in rare cases, episodes of liver dysfunction may 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.[1]

Last updated: 1/14/2013

What are the symptoms of benign recurrent intrahepatic cholestasis 1 (BRIC1)?

Most people with BRIC1 have their first episode of cholestasis in their teens or twenties. Symptoms often present with severe itchiness, 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, irritability, nausea, vomiting, and a lack of appetite. A common feature of BRIC1 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.[1]
Last updated: 1/14/2013

What causes benign recurrent intrahepatic cholestasis 1 (BRIC1)?

Mutations in the ATP8B1 gene cause BRIC1. 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 factors that trigger episodes of BRIC are unknown.[1]
Last updated: 1/14/2013

How is benign recurrent intrahepatic cholestasis 1 (BRIC1) inherited?

BRIC1 is 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 BRIC1 have no family history of the disorder. These cases arise from mutations in the ATP8B1 gene that occur in the body's cells after conception and are not inherited.[1]
Last updated: 1/14/2013

References
  1. Benign recurrent intrahepatic cholestasis. Genetics Home Reference (GHR). April 2012; http://ghr.nlm.nih.gov/condition/benign-recurrent-intrahepatic-cholestasis. Accessed 1/14/2013.


Other Names for this Disease
  • BRIC1
  • Cholestasis, benign recurrent intrahepatic 1
  • Recurrent familial intrahepatic cholestasis 1
  • Summerskill syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.