Paediatric acute liver failure: A prospective, nationwide, population-based surveillance study in Germany
Dominic Lenz1, Muhammad Abdulaziz1,2, Bianca Peters1
1Department I, Medical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg University, Heidelberg, Germany.
Insights
This study reveals that paediatric acute liver failure (PALF) in Germany affects 3.7 per million children annually, with metabolic/genetic and infectious causes being most common. Mortality is highest in neonates, highlighting the need for improved diagnostics and management.
Area of Science:
- Hepatology
- Paediatric Gastroenterology
- Epidemiology
Background:
- Paediatric acute liver failure (PALF) is a rare, life-threatening condition with limited epidemiological data in Germany.
- Understanding PALF incidence, causes, and outcomes is crucial for improving patient care.
Purpose of the Study:
- To systematically analyze the incidence, aetiology, and outcomes of PALF in Germany.
- To provide comprehensive epidemiological data on PALF in the German paediatric population.
Main Methods:
- A nationwide, population-based surveillance study was conducted from 2016 to 2018.
- Data on demographic, clinical, laboratory, therapeutic, and outcome variables were collected via the German Paediatric Surveillance Unit (ESPED).
- Whole exome and virus sequencing were utilized for unexplained aetiologies.
Main Results:
- An estimated incidence of 3.7 PALF cases per 1 million children per year was reported.
- Metabolic/genetic diseases (23%) and infectious causes (17%) were the most frequent aetiologies.
- Overall mortality was significant, particularly in neonates (42%), with liver transplantation in 22% of cases.
Conclusions:
- This study offers critical insights into PALF epidemiology in Germany, identifying key causes and age-specific outcomes.
- Enhanced diagnostic methods improved diagnostic yield, but substantial mortality, especially in neonates, persists.
- Further research is essential to enhance diagnostic accuracy, therapeutic strategies, and overall management of PALF.
Objectives:
Paediatric acute liver failure (PALF) is a rare but life-threatening condition, yet comprehensive epidemiological data in Germany are lacking. Our study aimed to systematically analyse incidence, aetiology, and outcome of PALF in Germany.
Methods:
In a nationwide, population-based surveillance study, cases of PALF (defined following the PALF study group inclusion criteria) were queried from 2016 to 2018 through the German Paediatric Surveillance Unit (ESPED). Demographic, clinical, laboratory, therapeutic, and outcome data were collected and analysed. In case of unexplained aetiology, whole exome and virus sequencing was offered as a complementary diagnostic.
Results:
Over the 3-year period, 148 cases were reported, yielding an estimated incidence of 3.7 per 1 million children per year. Neonates and infants were predominantly affected (45% of the cases); median age at PALF was 1.2 years (range: 0-17.9 years). Metabolic/genetic diseases were the most common cause (23%), followed by infectious causes (17%). The overall diagnostic yield was 73%, diagnosis remained unknown in 40 cases. Clinical outcome was age-dependent: new-borns showed a significant higher lethality (42%), followed by infants (29%), toddlers (15%), and school children (12%). Liver transplantation was reported in 22% of cases.
Conclusions:
This study provides comprehensive insights into PALF epidemiology in Germany. Metabolic/genetic causes and infectious diseases were most common. Advances in standardised diagnostic work-up and genetic analysis have enhanced diagnostic yield, yet mortality remains substantial, particularly among neonates. Further research is warranted to improve diagnostic accuracy, therapeutic outcomes, and overall management of PALF.
