Related Experiment Videos
Copper-associated liver disease in childhood
A Baker1, S Gormally, R Saxena
1Variety Club Children's Hospital, King's College Hospital, London, UK.
Insights
Copper-associated liver disease in children presents with rapid liver failure. Early diagnosis and intervention are crucial for better outcomes in this severe pediatric liver condition.
Area of Science:
- Pediatric Hepatology
- Toxicology
- Medical Genetics
Background:
- Indian childhood cirrhosis (ICC) is a severe pediatric liver disease characterized by high copper levels and mortality.
- Early penicillamine treatment has shown promise in reducing mortality and reversing liver damage in ICC.
- The clinical spectrum and diagnosis of copper-associated liver disease outside the Indian subcontinent require further definition.
Background/Aims:
Indian childhood cirrhosis is associated with high liver copper concentrations and progressive liver disease with a high mortality. Early treatment with penicillamine was found to reduce mortality and reverse liver damage. We aimed to define the clinical features of copper-associated liver disease outwith the Indian subcontinent and encourage the earlier consideration of the syndrome in cryptogenic liver disease.
Methods:
Three European children presented between 10 and 29 months of age with abdominal distension, pyrexia and hepatosplenomegaly. Over 1-5 weeks their condition deteriorated rapidly due to liver failure. Two died within 2 months of onset and one received a successful liver transplant. In two cases consideration of the diagnosis occurred only on examination of the liver after orthotopic liver transplant or death. Light microscopy was used, with haematoxylin and eosin, reticulin and orcein stains. Tissue, plasma and water copper levels were measured by flame atomic absorption spectrometry.
Results:
All had micronodular cirrhosis and severe hepatocellular necrosis with Mallory bodies and copious-orcein positive material. Liver copper concentrations ranged from 1100-1310 micrograms/g dry weight. For two patients domestic water with high copper content had been used for the preparation of feeds. No environmental source of excess copper could be identified in the third case.
Conclusions:
We suggest that the above condition, which is called Indian childhood cirrhosis in the Indian subcontinent and Copper Storage Disease elsewhere, would be better named 'Copper-Associated Liver Disease in Childhood', emphasising the need to consider this disorder in unexplained liver disease and to seek possible sources of excessive copper intake.