Why the study?
Heterozygous familial hypobetalipoproteinemia is usually asymptomatic and rarely leads to non-alcoholic steatohepatitis.
Familial hypobetalipoproteinemia can lead to non-alcoholic steatohepatitis despite very low LDL cholesterol levels, and may be managed with diet, exercise, and vitamin E supplementation.
Identifies NASH as rare pediatric FHBL complication; leaves open need for systematic screening and longitudinal studies.
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.
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Kondo et al. (2025) studied this question.
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