Progressive familial intrahepatic cholestasis type 5 (PFIC5)

PFIC5 is a severe autosomal recessive liver disorder caused by a mutation in the NR1H4 gene.50
PFIC5 is rapidly progressive leading to liver failure and death in the absence or impossibility of liver transplant. Other features include abnormal liver enzymes, normal GGT activity and increased alpha-fetoprotein.50
Diagnosis
Diagnosis is confirmed by genetic sequencing of the NR1H4gene.3

3. Orphanet: The portal for rare diseases and orphan drugs. 2020. at https://www.orpha.net/consor/cgi-bin/Disease.php?lng=EN.)

50. Gomez-Ospina N, Potter CJ, Xiao R, et al. Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis. Nat Commun 2016;7:10713.