ArticleFrontiers in medicine2026
Familial hypobetalipoproteinemia in pediatric patients with fatty liver: an under-recognized cause.
Article in Frontiers in medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Introduction: Fatty liver is a leading cause of chronic liver disease in children, most often due to metabolic dysfunction-associated steatotic liver disease (MASLD). Fatty liver in lean or younger children may indicate underlying metabolic or genetic disorders, such as familial hypobetalipoproteinemia (FHBL). We examined the importance of considering familial hypobetalipoproteinemia (FHBL) in children presenting with fatty liver. Methods: This case series includes seven patients with FHBL from three families, treated at two medical centers. Clinical, laboratory, imaging, and genetic data were collected from the medical records. Results: Four patients were male. The mean age at diagnosis was 15.3 years (range: 4-38). All the index patients were children or adolescents presenting with fatty liver. Genetic evaluation revealed biallelic variants in the microsomal triglyceride transfer protein ( Conclusion: FHBL should be considered a potential diagnosis in children with fatty liver and may coexist with other contributing etiologies such as obesity.
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