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Fatty liver disease in children (MAFLD/PeFLD Type 2): unique classification considerations and challenges
Robert Hegarty1, Eirini Kyrana1, Emer Fitzpatrick2
1Paediatric Liver, GI and Nutrition Centre, and MowatLabs, King's College Hospital, London, UK.
Insights
Metabolic dysfunction-associated fatty liver disease (MAFLD) in children requires careful diagnosis, distinguishing it from inherited metabolic disorders (IMDs). An individualized approach is crucial due to the complexity of pediatric fatty liver disease management.
Area of Science:
- Pediatric Hepatology
- Metabolic Disorders
- Liver Disease
Background:
- Fatty liver disease in children frequently overlaps with inherited metabolic disorders (IMDs), necessitating precise diagnosis and management.
- Metabolic dysfunction-associated fatty liver disease (MAFLD), previously non-alcoholic fatty liver disease (NAFLD), is a liver manifestation of a multisystemic condition diagnosed by metabolic dysfunction criteria.
- In children, MAFLD diagnosis often involves excluding IMDs, with the possibility of future IMD identification even with initially negative investigations.
Purpose of the Study:
- To provide a clinical perspective on pediatric fatty liver disease, emphasizing its relationship with metabolic dysfunction.
- To highlight the diagnostic challenges and the need for individualized management strategies in pediatric fatty liver disease.
- To underscore the increasing prevalence of MAFLD in children and adolescents and the current gaps in understanding and awareness.
Main Methods:
- Review of current clinical perspectives on pediatric fatty liver disease.
- Analysis of diagnostic criteria differentiating MAFLD from IMDs in children.
- Discussion of the complexities in managing pediatric fatty liver disease, including genetic, epigenetic, and psychosocial factors.
Main Results:
- MAFLD is the most common cause of liver disease in children and adolescents, affecting approximately 7% of this population.
- Classification of pediatric fatty liver disease includes MAFLD (PeFLD type 2) and cases requiring consideration for undiagnosed IMDs (PeFLD type 3).
- The management of pediatric fatty liver disease is complex and requires a personalized approach due to various influencing factors.
Conclusions:
- Accurate differentiation between MAFLD and IMDs is critical for appropriate management in children.
- An individualized approach is essential for managing pediatric fatty liver disease, considering its multifaceted nature.
- Increased awareness and further research are needed to address the growing prevalence and complexities of MAFLD in pediatric populations.
Abstract:
In children, fatty liver disease is a group of disorders that often overlaps with inherited metabolic disorders (IMDs), which requires prompt diagnosis and specific management. Metabolic dysfunction-associated fatty liver disease (MAFLD) or, formerly, non-alcoholic fatty liver disease (NAFLD) is the hepatic component of a multisystemic disease that requires a positive criteria in metabolic dysfunction for diagnosis. However, in children, the diagnosis of MAFLD is one of the exclusions of an IMD [paediatric fatty liver disease (PeFLD) type 1] including the possibility that an IMD can be identified in the future following investigations that may be negative at the time. Therefore, while children with fatty liver with metabolic dysfunction could be classified as MAFLD (PeFLD type 2) and managed that way, those who do not fulfil the criteria for metabolic dysfunction should be considered separately bearing in mind the possibility of identifying a yet undiagnosed IMD (PeFLD type 3). This concept is ever more important in a world where MAFLD is the most common cause of liver disease in children and adolescents in whom about 7% are affected. The disease is only partially understood, and awareness is still lacking outside hepatology and gastroenterology. Despite its increasing pervasiveness, the management is far from a one-size-fits-all. Increasing complexities around the genetic, epigenetic, non-invasive modalities of assessment, psychosocial impacts, therapeutics, and natural history of the disease have meant that an individualised approach is required. This is where the challenge lies so that children with fatty liver are considered on their own merits. The purpose of this review is to give a clinical perspective of fatty liver disease in children with relevance to metabolic dysfunction.
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