Non-alcoholic steatohepatitis-related cirrhosis in a patient with APOB L343V familial hypobetalipoproteinaemia

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• 作者：Liesl V. Heeks^a ; Amanda J. Hooper^a ; ^b ; ^c ; Leon A. Adams^b ; ^d ; Peter Robbins^e ; P. Hugh R. Barrett^b ; ^f ; Frank M. van Bockxmeer^a ; ^g ; John R. Burnett^a ; ^b ; ^c ; ^{john.burnett@health.wa.gov.au}
• 关键词：Familial hypobetalipoproteinaemia ; Non-alcoholic steatohepatitis ; Cirrhosis ; Apolipoprotein B ; LDL-cholesterol
• 刊名：Clinica Chimica Acta
• 出版年：2013
• 出版时间：5 June, 2013
• 年：2013
• 卷：421
• 期：Complete
• 页码：121-125
• 全文大小：1140 K

文摘

Familial hypobetalipoproteinaemia (FHBL) is a rare monogenic cause of hypocholesterolaemia. Increased liver transaminase concentrations and hepatic steatosis are a common occurrence in FHBL. Although FHBL subjects are protected against atherosclerotic cardiovascular disease, consequences of fatty liver in FHBL over the longer term are not known. We describe a case in which an obese woman with APOB L343V FHBL developed non-alcoholic steatohepatitis-related cirrhosis of the liver. Given the potential for progression to cirrhosis, it would seem prudent to serially monitor the livers of these individuals using biochemical and imaging techniques, particularly in the presence of known risk factors that lead to further liver injury, such as alcohol and caloric excess.