Benign recurrent intrahepatic cholestasis 2

Other Names: BRIC2; Cholestasis, benign recurrent intrahepatic 2; Recurrent familial intrahepatic cholestasis 2; Mild ABCB11 deficiency

Benign recurrent intrahepatic cholestasis 2 (BRIC2) 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. 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. Most people with BRIC2 have their first episode of cholestasis in their teens or twenties.

Epidemiology

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.

Cause

Mutations in the ABCB11 gene cause benign recurrent intrahepatic cholestasis type 2 (BRIC2).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.

Inheritance

Autosomal recessive inheritance, a 25% chance

BRIC2 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 BRIC have no family history of the disorder. These cases arise from mutations in the ABCB11 gene that occur in the body's cells after conception and are not inherited.

Signs and symptoms

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.

NIH genetic and rare disease info

• NIH info on Benign recurrent intrahepatic cholestasis 2

Benign recurrent intrahepatic cholestasis 2 is a rare disease.

Benign recurrent intrahepatic cholestasis 2 Resources
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