Pathological features of non-alcoholic steatohepatitis in a pediatric patient with heterozygous familial hypobetalipoproteinemia:A case report  

作　　者：Kiwako Miyamoto Sonoko Kondo Takeo Kondo Ryou Ishikawa Ryosuke Tani Tomoko Inoue Keiji Matsunaga Tetsuo Minamino Takashi Kusaka 

机构地区：[1]Department of Pediatrics,Faculty of Medicine,Kagawa University,Miki 761-0793,Kagawa,Japan [2]Department of Diagnostic Pathology,Faculty of Medicine,Kagawa University,Miki 761-0793,Kagawa,Japan [3]Department of Cardiorenal and Cerebrovascular Medicine,Faculty of Medicine,Kagawa University,Miki 761-0793,Kagawa,Japan

出　　处：《World Journal of Hepatology》2025年第2期286-292,共7页世界肝病学杂志(英文)

摘　　要：BACKGROUND Heterozygous familial hypobetalipoproteinemia(FHBL)is a semi-autosomal disorder that is caused mainly by an APOB variant.It is usually asymptomatic and rarely leads to non-alcoholic steatohepatitis(NASH).CASE SUMMARY A 12-year-old boy was referred to our hospital after prolonged elevation of liver enzymes was observed during health checkups in Kagawa Prefecture.Abdominal ultrasound showed a bright liver,and laboratory investigations revealed low lowdensity lipoprotein cholesterol and apolipoprotein B protein levels.His family history included fatty liver and hypolipidemia in his father,which led to a clinical diagnosis of FHBL.A liver biopsy was performed on suspicion of liver fibrosis based on biomarkers.The liver tissue showed fatty steatosis,inflammation,hepatocyte ballooning,and fibrosis,indicating NASH.Genetic testing detected the APOB variant,and the patient was treated successfully with vitamin E.CONCLUSION It is important to assess family history and liver dysfunction severity in non-obese patients with hypolipidemia and fatty liver.

关 键 词：Nonalcoholic steatohepatitis Familial hypobetalipoproteinemia HYPOLIPIDEMIA APOB variant Vitamin E Case report 

分 类 号：R575.5[医药卫生—消化系统]