Homozygous MTTP and APOB mutations may lead to hepatic steatosis and fibrosis despite metabolic differences in congenital hypocholesterolemia
M Di Filippo, P Moulin, P Roy, ME Samson-Bouma… - Journal of …, 2014 - Elsevier
Background & Aims Non-alcoholic steatohepatitis leading to fibrosis occurs in patients with
abetalipoproteinemia (ABL) and homozygous or compound heterozygous familial
hypobetalipoproteinemia (Ho-FHBL). We wanted to establish if liver alterations were more
frequent in one of both diseases and were influenced by comorbidities. Methods We report
genetic, clinical, histological and biological characteristics of new cases of ABL (n= 7) and
Ho-FHBL (n= 7), and compare them with all published ABL (51) and Ho-FHBL (22) …
abetalipoproteinemia (ABL) and homozygous or compound heterozygous familial
hypobetalipoproteinemia (Ho-FHBL). We wanted to establish if liver alterations were more
frequent in one of both diseases and were influenced by comorbidities. Methods We report
genetic, clinical, histological and biological characteristics of new cases of ABL (n= 7) and
Ho-FHBL (n= 7), and compare them with all published ABL (51) and Ho-FHBL (22) …