progressive familial intrahepatic cholestasis type 2

PFIC type 2 (PFIC2) is due to primarily impaired bile acid transport. In these patients, high levels of serum bile acids, together with severe progressive liver disease, are found.

PFIC type 2 is caused by a mutation in the bile salt export pump (BSEP, gene symbol ABCB11), the main agent responsible for the ATP-dependent secretion of monoanionic bile acids across the canalicular membrane.

The less severe variant of PFIC type 2 is benign recurrent intrahepatic cholestasis (BRIC) type 2. This is a mild condition characterized by intermittent crises of cholestasis without permanent liver damage. BRIC type 2 is also caused by mutations in ABCB11.

Progressive familial intrahepatic cholestasis, type 2 (PFIC2), characterized by cholestasis in infancy that may progress to cirrhosis, is caused by mutation in ABCB11, which encodes bile salt export pump (BSEP).

Synopsis

 hepatocellular cholestasis
 canalicular bile plugs
 centrizonal/sinusoidal fibrosis
 periportal fibrosis
 neonatal hepatitis-like features (inflammation, giant cells, necrosis)
 lobular and portal fibrosis

Light microscopy and electron microscopy findings in clinical PFIC2 can support diagnosis, but are variable and nonspecific. Therefore, no correlation between specific mutations and histopathology is yet possible. (21490445)

See also

 anomalies of bile acid transport (HPID:15089)
 progressive familial intrahepatic cholestases (PFICs)

References

 Morphologic findings in progressive familial intrahepatic cholestasis 2 (PFIC2): correlation with genetic and immunohistochemical studies. Evason K, Bove KE, Finegold MJ, Knisely AS, Rhee S, Rosenthal P, Miethke AG, Karpen SJ, Ferrell LD, Kim GE. Am J Surg Pathol. 2011 May;35(5):687-96. PMID: 21490445