{"title":"Pathological features of non-alcoholic steatohepatitis in a pediatric patient with heterozygous familial hypobetalipoproteinemia: A case report.","authors":"Kiwako Miyamoto, Sonoko Kondo, Takeo Kondo, Ryou Ishikawa, Ryosuke Tani, Tomoko Inoue, Keiji Matsunaga, Tetsuo Minamino, Takashi Kusaka","doi":"10.4254/wjh.v17.i2.103299","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>Heterozygous familial hypobetalipoproteinemia (FHBL) is a semi-autosomal disorder that is caused mainly by an <i>APOB</i> variant. It is usually asymptomatic and rarely leads to non-alcoholic steatohepatitis (NASH).</p><p><strong>Case summary: </strong>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 low-density 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 <i>APOB</i> variant, and the patient was treated successfully with vitamin E.</p><p><strong>Conclusion: </strong>It is important to assess family history and liver dysfunction severity in non-obese patients with hypolipidemia and fatty liver.</p>","PeriodicalId":23687,"journal":{"name":"World Journal of Hepatology","volume":"17 2","pages":"103299"},"PeriodicalIF":2.5000,"publicationDate":"2025-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11866159/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"World Journal of Hepatology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.4254/wjh.v17.i2.103299","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"GASTROENTEROLOGY & HEPATOLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
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 low-density 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.
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
