In the current era, Liver Diseases are not only restricted to Adults and Alcohol; on the contrary, due to advanced medical care, diverse causes of Liver disease are being diagnosed in children and successfully treated. As a Liver Specialist, people have become more vigilant, but I still feel that the awareness of Liver diseases in children is still lacking and deserves more awareness and education.
Types and Manifestations of Liver Diseases in Children
Hereditary - The majority of Pediatric Liver patients are born with it, primarily caused by genetic mutations affecting the liver's ability to process proteins, nutrients, or remove toxins. It manifests at different life stages—within weeks of birth, some may develop in adolescence & others in adulthood.
• Biliary Atresia is a condition seen in 1 per 10000 babies where bile ducts are blocked or malformed, preventing bile from the Liver to reach the intestine. Symptoms begin to appear within the first month after birth, mostly severe jaundice. The Kasai operation was commonly performed earlier where doctors used to bypass the blocked bile ducts by connecting the liver directly to the intestine. It was a temporary solution until a liver transplant could be performed. However, with advancements in transplant techniques, liver transplants can now be performed on very young children, making the Kasai operation less preferred option.
• Hemochromatosis incidence is more common in West 1:3000 and is characterized by excessive iron deposition in the liver and other body parts, causing organ dysfunction. Skin shows bronze colour discoloration due to increased hemoglobin. Despite treatment, the condition can worsen and lead to liver cirrhosis, where a liver transplant becomes necessary in severe cases.
• Glycogen storage diseases (GSD) such as Type 1 &4 are caused by recessive mutations, meaning a child must inherit the defective gene from both parents. This condition gradually damages the liver, requiring a liver transplant. Patients with severe GSD types 3 & 4 can also be managed with Liver Transplants.
• Alpha-1 antitrypsin deficiency is more common in the West, accounting for 1 per 3000 live births. This results from a lack or deficiency of the alpha-1 antitrypsin protein in the blood, which is crucial for lung function and often results in respiratory symptoms. Over time, the deficiency also affects the liver, causing liver shrinkage from a normal of 1kg approx. to 250 to 500 grams. In severe cases, when the liver becomes cirrhotic, a liver transplant may be carried out to treat the condition.
• Wilson's disease affects 1 in 40,000 children, where it involves excessive copper deposition in the body due to a deficiency in the ATP7B gene, impairing the body's ability to excrete copper. This copper buildup, especially in the liver, can lead to cirrhosis. Wilson's disease often manifests in nonspecific symptoms, making early diagnosis extremely challenging. Common symptoms can be copper rings in the eyes (known as Kayser-Fleischer rings) and higher copper levels in the urine. Despite this, the disease is diagnosed late in most cases, when significant liver damage has already occurred and a liver transplant becomes the only solution.
• Alagille Syndrome is prevalent in 1 per 50,000 live births, affecting both sexes equally. In this condition, the child has fewer than the normal number of small bile ducts inside the liver.
• Progressive familial intrahepatic cholestasis (PFIC) and other lysosomal disorders incidence is 1:50000. It also impacts liver function and can necessitate liver transplants. As treatment options are often limited for these hereditary conditions, the focus relies mainly on symptom management and complications. But when the liver gets damaged extensively, then a Liver Transplant is the only option.
NAFLD/ MASLD- This problem occurs mainly due to obesity & diabetes and is exceedingly seen in the younger age group due to lack of exercise, unhealthy lifestyle, and some genetic and environmental factors.
Liver Malignancy- Hepatoblastoma & Hepatocellular Carcinoma are another group of conditions in children, where they will need liver surgery or even Liver Transplant.
Acute Liver Failure – Many of the above conditions and some conditions like hepatitis, drug intake (Paracetamol / Alternative medicine), and accidental intake of substances like rat poison result in acute liver failure in children, requiring urgent care and even Transplant in some cases.
Prevention and Management
Reducing the risk of liver disease in adulthood is very much talked about these days, but there are still some gaps in conditions affecting children. Parents should be vigilant for early signs of liver disease in children, such as delayed milestones, jaundice, or increasing girth of the abdomen. Early detection through regular check-ups is invaluable, and genetic testing is confirmatory. For families with a history of hereditary liver diseases, genetic counseling can help understand risks and take preventive actions. Avoiding consanguineous marriages and testing potential partners can further prevent transmission of these genetic conditions.
(Dr Sanjeev Rohatgi, Consultant - Surgical Gastroenterology & Multi-Organ Transplantation, Manipal Hospital Whitefield.)
Types and Manifestations of Liver Diseases in Children
Hereditary - The majority of Pediatric Liver patients are born with it, primarily caused by genetic mutations affecting the liver's ability to process proteins, nutrients, or remove toxins. It manifests at different life stages—within weeks of birth, some may develop in adolescence & others in adulthood.
• Biliary Atresia is a condition seen in 1 per 10000 babies where bile ducts are blocked or malformed, preventing bile from the Liver to reach the intestine. Symptoms begin to appear within the first month after birth, mostly severe jaundice. The Kasai operation was commonly performed earlier where doctors used to bypass the blocked bile ducts by connecting the liver directly to the intestine. It was a temporary solution until a liver transplant could be performed. However, with advancements in transplant techniques, liver transplants can now be performed on very young children, making the Kasai operation less preferred option.
• Hemochromatosis incidence is more common in West 1:3000 and is characterized by excessive iron deposition in the liver and other body parts, causing organ dysfunction. Skin shows bronze colour discoloration due to increased hemoglobin. Despite treatment, the condition can worsen and lead to liver cirrhosis, where a liver transplant becomes necessary in severe cases.
• Glycogen storage diseases (GSD) such as Type 1 &4 are caused by recessive mutations, meaning a child must inherit the defective gene from both parents. This condition gradually damages the liver, requiring a liver transplant. Patients with severe GSD types 3 & 4 can also be managed with Liver Transplants.
• Alpha-1 antitrypsin deficiency is more common in the West, accounting for 1 per 3000 live births. This results from a lack or deficiency of the alpha-1 antitrypsin protein in the blood, which is crucial for lung function and often results in respiratory symptoms. Over time, the deficiency also affects the liver, causing liver shrinkage from a normal of 1kg approx. to 250 to 500 grams. In severe cases, when the liver becomes cirrhotic, a liver transplant may be carried out to treat the condition.
• Wilson's disease affects 1 in 40,000 children, where it involves excessive copper deposition in the body due to a deficiency in the ATP7B gene, impairing the body's ability to excrete copper. This copper buildup, especially in the liver, can lead to cirrhosis. Wilson's disease often manifests in nonspecific symptoms, making early diagnosis extremely challenging. Common symptoms can be copper rings in the eyes (known as Kayser-Fleischer rings) and higher copper levels in the urine. Despite this, the disease is diagnosed late in most cases, when significant liver damage has already occurred and a liver transplant becomes the only solution.
• Alagille Syndrome is prevalent in 1 per 50,000 live births, affecting both sexes equally. In this condition, the child has fewer than the normal number of small bile ducts inside the liver.
• Progressive familial intrahepatic cholestasis (PFIC) and other lysosomal disorders incidence is 1:50000. It also impacts liver function and can necessitate liver transplants. As treatment options are often limited for these hereditary conditions, the focus relies mainly on symptom management and complications. But when the liver gets damaged extensively, then a Liver Transplant is the only option.
NAFLD/ MASLD- This problem occurs mainly due to obesity & diabetes and is exceedingly seen in the younger age group due to lack of exercise, unhealthy lifestyle, and some genetic and environmental factors.
Liver Malignancy- Hepatoblastoma & Hepatocellular Carcinoma are another group of conditions in children, where they will need liver surgery or even Liver Transplant.
Acute Liver Failure – Many of the above conditions and some conditions like hepatitis, drug intake (Paracetamol / Alternative medicine), and accidental intake of substances like rat poison result in acute liver failure in children, requiring urgent care and even Transplant in some cases.
Prevention and Management
Reducing the risk of liver disease in adulthood is very much talked about these days, but there are still some gaps in conditions affecting children. Parents should be vigilant for early signs of liver disease in children, such as delayed milestones, jaundice, or increasing girth of the abdomen. Early detection through regular check-ups is invaluable, and genetic testing is confirmatory. For families with a history of hereditary liver diseases, genetic counseling can help understand risks and take preventive actions. Avoiding consanguineous marriages and testing potential partners can further prevent transmission of these genetic conditions.
(Dr Sanjeev Rohatgi, Consultant - Surgical Gastroenterology & Multi-Organ Transplantation, Manipal Hospital Whitefield.)
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