Published online Feb 27, 2025. doi: 10.4254/wjh.v17.i2.103299
Revised: December 26, 2024
Accepted: January 21, 2025
Published online: February 27, 2025
Processing time: 98 Days and 1.9 Hours
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).
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.
It is important to assess family history and liver dysfunction severity in non-obese patients with hypolipidemia and fatty liver.
Core Tip: This report describes a 12-year-old boy with a prolonged history of liver dysfunction and low levels of low-density lipoprotein cholesterol (LDL-C) who was pathologically diagnosed with nonalcoholic steatohepatitis. His father also had a history of prolonged liver dysfunction and low LDL-C. Genetic testing identified a heterozygous mutation in APOB, which confirmed a diagnosis of familial hypobetalipoproteinemia (FHBL) with nonalcoholic steatohepatitis. Nonalcoholic steatohepatitis is well documented in adults with FHBL. This rare report of FHBL in a child indicates that nonalcoholic steatohepatitis can develop within a relatively short period but responded to treatment with vitamin E.