History to Ask in Pediatric Liver Disease
When evaluating a child for suspected liver disease, obtain a detailed perinatal and neonatal history, family history of liver disease or hepatocellular carcinoma, exposure history including medications and infections, and assess for symptoms of metabolic dysfunction or chronic liver complications.
Perinatal and Neonatal History
Document maternal hepatitis B status and whether the infant received timely immunoprophylaxis and vaccination, as approximately 90% of infants infected perinatally develop chronic HBV infection, particularly if maternal HBV DNA levels exceeded 20 million IU/mL 1
Ask about neonatal jaundice, particularly prolonged conjugated hyperbilirubinemia beyond 2 weeks of age, as this may indicate biliary atresia, alpha-1 antitrypsin deficiency, or progressive familial intrahepatic cholestasis 1
Inquire about failure to thrive, poor feeding, or hepatomegaly noted in infancy, as these are common presentations of metabolic liver diseases including alpha-1 antitrypsin deficiency and glycogen storage disorders 1, 2
Determine if the infant had cholestatic pruritus or hypercholesterolemia, which may indicate bile acid synthesis disorders or progressive familial intrahepatic cholestasis 1
Family History
Obtain detailed family history of liver disease, cirrhosis, or hepatocellular carcinoma in first-degree relatives, as this argues for early treatment consideration in children with chronic hepatitis B and indicates higher risk for severe outcomes 1
Ask about siblings with liver disease or early death from liver failure, particularly in alpha-1 antitrypsin deficiency where concordance of severe disease in siblings is increased 1
Screen for familial cases of neonatal hepatitis, as familial idiopathic neonatal hepatitis carries particularly poor prognosis with continuous progression to chronic liver disease or death 3
Document family history of NAFLD, as penetrance is demonstrated in first, second, and third-degree relatives of children with NAFLD, indicating genetic susceptibility 1
Metabolic and Nutritional History
Ask about episodes of hypoglycemia, particularly fasting hypoglycemia or hypoglycemia with illness, as this strongly suggests glycogen storage disease or fatty acid oxidation defects 2, 4
Document feeding patterns and tolerance, including frequency of feeds required to prevent symptoms, as children with glycogen storage diseases require frequent feedings every 2-4 hours 2
Assess for symptoms occurring with fasting or prolonged intervals between meals, such as lethargy, seizures, or altered mental status, which indicate metabolic liver disease 2
Inquire about growth parameters and weight gain patterns, as malnutrition is common in pediatric chronic liver disease and children require 20-80% more calories than healthy children 5
Exposure and Infection History
Determine country of birth and immigration status, as children from HBV-endemic areas are at particular risk for chronic infection 1
Document vaccination history, including whether the child was vaccinated against hepatitis B and response to vaccination 1
Ask about exposure to viral hepatitis, including household contacts with hepatitis B or C, though there is no causal relationship between viral hepatitis and childhood liver disease in alpha-1 antitrypsin deficiency 1
Obtain medication history, including over-the-counter medications, herbal supplements, and any hepatotoxic drugs 1
Inquire about parenteral nutrition exposure, as this is associated with liver disease in children 1
Symptoms of Chronic Liver Disease
Ask about pruritus, which is prominent in cholestatic diseases like progressive familial intrahepatic cholestasis but notably absent in bile acid synthesis disorders despite cholestasis 1
Document presence of jaundice, dark urine, or pale stools, indicating cholestatic liver disease 1
Inquire about abdominal distension or ascites, which may indicate portal hypertension or decompensated cirrhosis 1
Ask about easy bruising or bleeding, suggesting coagulopathy from liver synthetic dysfunction 1
Screen for gastrointestinal bleeding or hematemesis, which may indicate esophageal varices from portal hypertension 1
Age-Specific Considerations
For infants under 4 months, ask about cutaneous hemangiomas, as 5 or more cutaneous hemangiomas warrant screening for hepatic hemangiomas that can cause high-output cardiac failure 4
For obese children and adolescents (age 10 and older), screen for features of metabolic syndrome, including hypertension, insulin resistance, and dyslipidemia, as these increase risk for NAFLD 1
Document age at symptom onset, as children with NAFLD as early as age 2 and NASH-related cirrhosis by age 8 have been reported, indicating those with early onset may be at highest risk for complications 1
Additional Critical History Elements
Ask about diarrhea or short stature, particularly in children with suspected progressive familial intrahepatic cholestasis type 1 (FIC1 disease), as ATP8B1 expression in extrahepatic organs causes these symptoms that may worsen after liver transplantation 1
Inquire about developmental delays or neurological symptoms, as cytomegalovirus infection causing neonatal hepatitis is a frequent cause of brain damage despite benign liver disease 3
Document breast-feeding history, though evidence is conflicting regarding protective effects in alpha-1 antitrypsin deficiency 1
Critical Pitfalls to Avoid
Do not overlook family history of hepatocellular carcinoma, as this may argue for early treatment even in children with normal or mildly elevated ALT 1
Never assume normal growth excludes significant liver disease, as children may maintain weight through fluid retention (ascites) while having severe malnutrition 5
Do not dismiss mild or intermittent symptoms in young children, as severe liver disease during childhood is rare but children remain at risk for serious complications later in life including cirrhosis and hepatocellular carcinoma 1