Cholestasis- benign recurrent intrahepatic 2
Overview
A rare liver disorder characterized by intermittent episodes of cholestasis (impaired bile flow within the liver) that doesn't involve obstruction of bile ducts outside the liver. The jaundice tends to disappear in weeks or months without treatment and the condition does not lead to liver failure. Type 2 is caused by a defect on the ABCB11 gene on chromosome 2q24
Symptoms
* Increased serum bile acids * Jaundice * Yellow skin * Itchy skin * Enlarged liver
Causes
"Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11."
Treatment
* Pruritus is a devastating symptom in BRIC patients and responds poorly to cholestyramine, UDCA (14) or SAMe (15). * Some (16) but not all patients (10) respond to enzyme induction with rifampicin. * I have maintained one patient in remission for years with the combination of rifampicin and UDCA * Plasmapheresis (12) or MARS (17) should be considered in refractory cases. The latter will also improve the renal impairment occasionally seen in BRIC (18). * Biliary diversion – successful in alleviating the pruritus in PFIC – has been tried with not very convincing results in BRIC. In one case, nasobiliary drainage via ERCP provided long-lasting relief