To examine the importance of considering familial hypobetalipoproteinemia (FHBL) in children presenting with fatty liver and the implications of its potential underdiagnosis.
Key Findings:
Mean age at diagnosis was 15.3 years, with all patients presenting with fatty liver; demographic details should be included.
Genetic evaluation revealed biallelic variants in the MTTP gene in two siblings and heterozygous variants in the APOB gene in five patients.
Median follow-up time was 12 months; liver enzymes were elevated in three patients, with specific values provided.
Interpretation:
FHBL should be considered in pediatric patients with fatty liver, especially in lean or younger children, as it may coexist with other conditions like obesity, highlighting the need for awareness in clinical practice.
Limitations:
Small sample size of seven patients limits generalizability and may introduce selection bias.
Potential underdiagnosis of FHBL in the pediatric population due to lack of routine screening.
Conclusion:
Early diagnosis of FHBL can help prevent advanced liver disease in children with fatty liver, emphasizing the need for targeted screening in at-risk populations.
