82  Liver Disorders

82.1 Introduction

Liver diseases in children represent a significant component of paediatric morbidity and mortality worldwide, including in Ghana. The liver plays a central role in metabolism, detoxification, bile production, and immunity. Pediatric liver diseases range from transient biochemical abnormalities to severe chronic liver failure. Understanding the pathophysiology, clinical presentation, diagnosis, and management is essential for early intervention and improved outcomes.

82.2 Anatomy and Physiology of the Pediatric Liver

The liver is the largest solid organ in the body, comprising about 5% of the body weight in neonates. It performs vital functions, including:

  • Carbohydrate, protein, and lipid metabolism
  • Synthesis of coagulation factors and plasma proteins
  • Bile production and excretion
  • Detoxification of drugs and toxins
  • Immune surveillance through Kupffer cells

Due to its wide range of functions, liver dysfunction can present in multiple ways, ranging from jaundice to coagulopathy, growth failure, or encephalopathy.

82.3 Classification of Pediatric Liver Diseases

Pediatric liver diseases can be broadly classified into:

  1. Congenital/Genetic Disorders
  2. Infectious Causes
  3. Autoimmune Liver Diseases
  4. Metabolic Liver Diseases
  5. Toxic and Drug-Induced Hepatopathies
  6. Cholestatic Liver Diseases
  7. Liver Tumors

Each category encompasses specific diseases with unique features, although overlaps may exist.

Neonatal Cholestasis

Definition: Neonatal cholestasis is defined as prolonged conjugated hyperbilirubinemia (>1 mg/dL if total bilirubin is <5 mg/dL or >20% of total bilirubin if >5 mg/dL) lasting beyond 14 days of life in term infants.

Common Causes:

  • Biliary atresia
  • Neonatal hepatitis
  • Metabolic diseases (e.g., galactosemia, alpha-1 antitrypsin deficiency)
  • Infections (e.g., TORCH infections)

82.3.1 Biliary Atresia

  • Pathology: Progressive fibro-obliterative disease of the bile ducts.
  • Presentation: Jaundice, pale stools, dark urine, hepatomegaly.
  • Diagnosis: Ultrasound, hepatobiliary iminodiacetic acid (HIDA) scan, liver biopsy.
  • Treatment: Kasai portoenterostomy; liver transplant in advanced cases.

82.3.2 Neonatal Hepatitis

  • May be idiopathic or secondary to infections.
  • Histology shows giant cell transformation.
  • Management includes supportive care and treating underlying causes.

Acute Hepatitis

Acute hepatitis in children can be viral, drug-induced, or autoimmune.

Viral Hepatitis

  • Hepatitis A virus (HAV): Feco-oral transmission, self-limiting.
  • Hepatitis B virus (HBV): Perinatal transmission common in Ghana; can lead to chronic infection.
  • Hepatitis C virus (HCV): Less common; vertical transmission possible.
  • Other viruses: Epstein-Barr virus, cytomegalovirus.

Clinical Features

  • Jaundice
  • Anorexia
  • Vomiting
  • Fever
  • Tender hepatomegaly

Diagnosis

  • Liver function tests: Elevated AST, ALT, bilirubin
  • Serological markers: HBsAg, anti-HAV IgM, anti-HCV

Management

  • Supportive care in most cases
  • Antivirals in selected chronic HBV/HCV cases
  • Immunization for prevention (e.g., hepatitis B vaccine)

Chronic Hepatitis

Persistent liver inflammation >6 months is classified as chronic hepatitis.

Causes

  • Chronic HBV/HCV
  • Autoimmune hepatitis
  • Metabolic disorders (e.g., Wilson’s disease)

82.3.3 Autoimmune Hepatitis (AIH)

  • More common in adolescents
  • Autoantibodies: ANA, SMA, LKM-1
  • Associated with other autoimmune diseases
  • Requires immunosuppressive therapy (e.g., prednisolone and azathioprine)

82.3.4 Wilson’s Disease

  • Autosomal recessive disorder of copper metabolism
  • Presents with liver dysfunction, neuropsychiatric symptoms
  • Low ceruloplasmin, elevated 24-hour urinary copper
  • Treatment: Zinc, chelating agents (penicillamine)

Metabolic Liver Diseases

These are inherited disorders affecting liver metabolism.

Examples

  • Galactosemia: Deficiency of galactose-1-phosphate uridyl transferase; leads to liver failure, cataracts, E. coli sepsis.
  • Hereditary fructose intolerance
  • Tyrosinemia type 1: Presents with hepatomegaly, coagulopathy; managed with nitisinone and diet.

These conditions are often diagnosed early due to symptoms like hypoglycemia, hepatomegaly, and failure to thrive.

82.4 Liver Failure

Acute Liver Failure (ALF)

Defined by rapid deterioration in liver function with encephalopathy and coagulopathy in a previously healthy child.

Causes

  • Viral hepatitis (especially HBV)
  • Drugs (e.g., paracetamol overdose)
  • Metabolic diseases
  • Autoimmune hepatitis

Clinical Features

  • Jaundice
  • Confusion or irritability
  • Bleeding tendencies
  • Ascites

Management

  • Supportive care in ICU
  • Monitoring for cerebral edema, hypoglycemia
  • Specific treatment depending on etiology (e.g., N-acetylcysteine for paracetamol poisoning)
  • Liver transplant if unresponsive to therapy

82.5 Cirrhosis and Portal Hypertension

Cirrhosis refers to end-stage liver disease with fibrosis and regenerative nodules. In children, it can arise from:

  • Biliary atresia
  • Chronic viral hepatitis
  • Metabolic liver disease
  • Autoimmune hepatitis

Portal Hypertension

Leads to complications such as:

  • Splenomegaly
  • Esophageal varices
  • Ascites

Management

  • Beta-blockers to reduce portal pressure
  • Endoscopic variceal ligation
  • Diuretics for ascites
  • Consideration for liver transplant

82.6 Liver Tumors

Pediatric liver tumors are rare but important.

Hepatoblastoma

  • Most common malignant liver tumor in children <3 years
  • Presents with abdominal mass, weight loss
  • Alpha-fetoprotein (AFP) often elevated
  • Treatment includes surgery and chemotherapy

Hepatocellular Carcinoma (HCC)

  • More common in older children and those with chronic HBV
  • Often presents late with poor prognosis

82.7 Drug and Toxin-Induced Liver Injury

Numerous drugs and herbal preparations used in Ghana have hepatotoxic potential.

Common agents

  • Paracetamol overdose: Can cause acute liver failure.
  • Antituberculous therapy (e.g., isoniazid, rifampicin)
  • Herbal medications: Unregulated products may lead to hepatotoxicity.

Prevention and Management

  • Educating caregivers on safe medication use
  • Early recognition of hepatotoxicity
  • Withdrawal of offending agent
  • Use of antidotes where available (e.g., NAC for paracetamol)

82.8 Liver Transplantation in Children

In end-stage liver disease or irreversible acute liver failure, liver transplantation may be lifesaving.

Indications

  • Biliary atresia unresponsive to surgery
  • Metabolic liver disease
  • Acute liver failure not responsive to treatment
  • Liver tumors not resectable

Although liver transplantation is not widely available in Ghana, there are ongoing efforts to improve access through regional collaborations.

82.9 Clinical Evaluation of a Child with Suspected Liver Disease

82.9.1 History

  • Duration and progression of jaundice
  • Stool and urine color
  • Family history of liver or metabolic diseases
  • Drug and herbal intake
  • Birth and feeding history

82.9.2 Physical Examination

  • Jaundice
  • Hepatosplenomegaly
  • Ascites
  • Encephalopathy
  • Growth assessment

82.9.3 Laboratory Tests

  • Liver function tests: AST, ALT, ALP, GGT, bilirubin
  • Coagulation profile: PT, INR
  • Serum albumin
  • Viral markers
  • Autoimmune profile
  • Metabolic screens

82.9.4 Imaging

  • Abdominal ultrasound
  • Doppler studies of hepatic vasculature
  • CT or MRI in selected cases

82.9.5 Liver Biopsy

  • Helpful in diagnosing chronic hepatitis, metabolic and autoimmune diseases

82.10 Prevention and Public Health Implications

In Ghana, a major proportion of the liver disease burden is preventable through:

  • Universal hepatitis B vaccination at birth
  • Screening pregnant women for HBV
  • Avoiding unnecessary use of hepatotoxic drugs and herbs
  • Education on nutrition and infection prevention
  • Early detection and referral of children with jaundice, hepatomegaly, or growth faltering

82.11 Conclusion

Liver diseases in children vary in cause and symptoms. A high level of suspicion, early diagnosis, and prompt treatment are vital for better outcomes. For medical students and healthcare providers in Ghana, understanding these conditions—including the role of local infections and cultural practices—is important for effective care and preventing long-term problems. Focusing on vaccination, health education, and improving diagnostic tools is a key national priority for managing paediatric liver diseases.