Intermittent cholestasis with spontaneous resolution.
Benign Recurrent Intrahepatic Cholestasis (BRIC);
Often autosomal recessive
(caused by mutations in a gene designated ATP8B1 on 18q21). Autosomal
dominant forms exist. The disease is perhaps allelic with Byler Disease
(Intrahepatic Cholestasis Syndrome).
Characterized by intermittent episodes of
cholestasis without extrahepatic bile duct obstruction. Initial elevation of
serum bile acids is followed by cholestatic jaundice; spontaneous resolution
in a few weeks or months. Biliary cirrhosis and intrahepatic cholestasis can
No specification with other
hepatobiliary diseases. Evaluate severity of liver lesion (clinical,
echography, CT scan, MRI). Laboratory investigations should include coagulation
test with factor V, bilirubin, serum glutamic-oxaloacetic transaminase
(SGOT), serum glutamic-pyruvic transaminase (SGPT), and albumin. Anesthesia
drugs requiring hepatic metabolism should be avoided.
Byler Disease (Progressive Familial Intrahepatic Cholestasis
Syndrome (PFIC); Fatal Intrahepatic Cholestasis Syndrome): Characterized by a variety of
intrahepatic cholestasis that lead to death in the first decade of life. It is has been
reported in the Old Order Amish. The clinical features include an early onset of loose,
foul-smelling stools, post-infection “attacks” of jaundice, hepatosplenomegaly,
dwarfism, and death between the first year and 8 years of age.
Floreani A, Molaro M, Mottes M, et al: Autosomal dominant benign
recurrent intrahepatic cholestasis (BRIC) unlinked to 18q21 and 2q24. Am J Med Genet
Summerskill WHJ, Walshe JM: Benign recurrent intrahepatic “obstructive”