Familial Hypobetalipoproteinemia as a Frequently Overlooked Factor in Pediatric Fatty Liver Disease - Takeaways - MDSpire

Familial Hypobetalipoproteinemia as a Frequently Overlooked Factor in Pediatric Fatty Liver Disease

  • By

  • Nurit Loberman Nachum

  • Eyal Shteyer

  • Hofit Cohen

  • Odelia Chorin

  • Maya Granot

  • Batia Weiss

  • April 22, 2026

  • 0 min

Share

  • 1

    Familial hypobetalipoproteinemia (FHBL) is a significant genetic factor in pediatric fatty liver disease, often overlooked in lean children.

  • 2

    The study involved seven patients with FHBL, revealing a mean diagnosis age of 15.3 years and elevated liver enzymes in three patients.

  • 3

    Genetic evaluations identified biallelic variants in the MTTP gene and heterozygous variants in the APOB gene among the patients.

  • 4

    FHBL is characterized by low LDL and ApoB levels, increasing the risk for liver steatosis, fibrosis, and cancer despite a lower cardiovascular risk.

  • 5

    Early diagnosis of FHBL is crucial for preventing advanced liver disease, especially in pediatric patients with fatty liver.

Original Source(s)

Familial Hypobetalipoproteinemia as a Frequently Overlooked Factor in Pediatric Fatty Liver Disease

  • by Nurit Loberman Nachum, Eyal Shteyer, Hofit Cohen, Odelia Chorin, Maya Granot, Batia Weiss

  • April 22, 2026

Related Content

Targeting macrophages in liver fibrosis

Parity, body mass index, smoking and risk of rheumatoid arthritis: data from the Australian Longitudinal Study on Women’s Health

Schisandra chinensis Fructus and its active metabolites for the treatment of metabolic dysfunction-associated steatotic liver disease