Liver cirrhosis in children and infants symptoms causes and effective treatment methods

Pediatric liver fibrosis is a rare but serious condition that can significantly affect a child’s life if not detected early. This disease occurs due to the accumulation of fibrous tissue in the liver, often caused by genetic defects or problems in liver development during pregnancy, which can also lead to complications in liver and kidney function. In this Dalily Medical article, we will explore the key symptoms of liver fibrosis in children, its causes, diagnostic methods, and treatment options, along with important tips for prevention and medical follow-up. Early awareness and understanding of warning signs help parents take prompt action to protect their child’s health.

What is Pediatric Liver Fibrosis?
Pediatric liver fibrosis is a chronic liver disease that occurs when scar tissue replaces healthy liver tissue. As the fibrous tissue accumulates, the liver becomes stiff, affecting its vital functions, such as nutrient processing and toxin filtration.

In severe cases, the liver may fail, and the child might require a liver transplant. Although the liver has remarkable self-repair capabilities, chronic liver diseases can still lead to permanent fibrosis.

In very young children, the cause is often genetic, such as biliary atresia. In older children, conditions like Wilson’s disease or autoimmune hepatitis can lead to liver fibrosis.

Long-term Impact of Liver Fibrosis
Liver fibrosis is a chronic condition. Children with this disease require lifelong medical monitoring and ongoing treatment.

Congenital Hepatic Fibrosis in Infants
Congenital hepatic fibrosis (CHF) is a rare genetic disorder present from birth. It is characterized by the accumulation of fibrous tissue in the liver, which affects liver function and blood flow. In some cases, it may also impact the kidneys if associated with hereditary kidney diseases.

Stages of Liver Fibrosis in Infants

Early Stage (Newborn – 1 year)
Most infants appear normal or show mild symptoms, such as:
- Enlarged liver or spleen
- Difficulty gaining weight
- Frequent vomiting or fatigue after feeding
Intermediate Stage (1 – 3 years)
Gradual decline in liver function may appear:
- Elevated liver enzymes in lab tests
- Mild jaundice (yellowing of skin or eyes)
- Blood clotting problems or low platelet count
Advanced Stage (After 3 years or depending on severity)
Fibrous tissue buildup affects blood flow in the liver, potentially causing:
- Portal hypertension
- Esophageal or gastric varices
- Gastrointestinal bleeding in some cases
- Progressive liver failure or kidney problems if linked to hereditary kidney disease
Chronic Stage (Long-term)
The disease persists throughout life, but symptoms may vary depending on treatment and monitoring.

Monitoring and Management of Pediatric Congenital Hepatic Fibrosis

Regular monitoring of the child’s growth and liver function.
Medications to reduce portal hypertension or prevent variceal bleeding.
In very severe cases, liver transplantation may be the definitive solution.

Causes of Congenital Hepatic Fibrosis in Infants
Congenital hepatic fibrosis (CHF) usually occurs due to genetic defects or developmental problems in the liver and kidneys during fetal growth. The condition is sometimes associated with hereditary kidney diseases, affecting liver function from birth.

Genetic Causes

Most cases are inherited due to gene mutations.
Typically, the disease follows an autosomal recessive pattern, meaning the child inherits the defective gene from both parents.
The affected genes are responsible for forming bile ducts in the liver, leading to fibrous tissue accumulation.
Sometimes linked with hereditary kidney diseases such as:
- Polycystic Kidney Disease (PKD)
- Autosomal Recessive Polycystic Kidney Disease (ARPKD)

Rare Birth-related Causes

Some infants are born with malformations in the bile ducts or liver cells.
Deficiency of certain enzymes or proteins during pregnancy may result in progressive liver fibrosis after birth.

Causes Related to Mosaic or Complex Genes

Some infants have partial chromosomal or gene defects, not complete mutations.
Symptoms are often milder or appear later compared to full genetic cases.

Symptoms of Congenital Hepatic Fibrosis in Infants
Symptoms vary depending on disease severity but often manifest as liver and kidney issues or complications from portal hypertension.

General Symptoms

Enlarged liver and spleen (Hepatomegaly & Splenomegaly)
Poor weight gain or growth delay
Fatigue or general weakness
Frequent vomiting or feeding difficulties

Skin Symptoms

Jaundice: yellowing of skin and eyes
Easy bruising or bleeding due to clotting issues

Digestive Symptoms

Bleeding from esophageal or gastric varices caused by portal hypertension
Abdominal swelling from enlarged spleen or fluid accumulation

Neurological or General Complications

Severe fatigue or muscle weakness at times
Irritability or difficulty sleeping
In severe cases, clotting problems may cause internal bleeding

Signs of Specific Complications

Esophageal or gastric varices: may cause vomiting blood or dark stool
Portal hypertension: leads to swelling in the feet or abdomen
Kidney-related issues: cystic kidneys or impaired kidney function

Important Notes

Some children may show mild symptoms for a long time before complications appear.
Early diagnosis is crucial to prevent gastrointestinal bleeding or liver and kidney failure.
Lifelong monitoring of growth, liver, and kidney function is essential.

Diagnosis of Pediatric Liver Fibrosis

Diagnosing liver fibrosis in children requires precision and a comprehensive evaluation, as the disease may be chronic and symptoms can develop gradually. Diagnosis relies on the child’s medical history, clinical examination, laboratory tests, imaging, endoscopy, and sometimes liver biopsy.

Medical History
The doctor asks about:

Symptoms observed in the child, such as vomiting, loss of appetite, or weight changes.
Past medical history, previous medications, and nutritional supplements.
Family history of liver diseases.

Clinical Examination
Includes:

Checking for jaundice (yellowing of skin and eyes).
Assessing for edema or ascites.
Using a stethoscope to examine the heart and chest.
Checking for liver or spleen enlargement.

Laboratory Tests
Include:

a. Liver Function Tests

Measuring liver enzymes (ALT, AST, alkaline phosphatase, Gamma GT).
Blood bilirubin levels.
Blood protein levels (albumin, immunoglobulin).

b. Complete Blood Count (CBC)

Detects anemia or signs of infection.

c. Electrolytes and Minerals

Sodium, potassium, calcium, magnesium, phosphorus, bicarbonate, chloride, urea, creatinine.

d. Special Tests

Serum transferrin and ferritin measurement.
Ceruloplasmin and copper in blood and urine (if age >3 years).
Alpha-1-antitrypsin assay.
Viral hepatitis tests (HBV, HCV).
Autoimmune liver disease tests (ANA, SMA, AMA).

Imaging
a. Ultrasound

Determines liver size, shape, bile duct cysts, and gallstones.
Estimates spleen size and indirectly assesses portal hypertension.
Doppler techniques evaluate blood flow in the portal vein and hepatic artery.

b. CT Scan and MRI

Essential before liver transplantation to assess congenital abnormalities or fibrosis-related changes.
Helps detect thrombosis or systemic portal alterations.

Endoscopy

Evaluates the presence and extent of esophageal and gastric varices, and occasionally duodenal varices.

Liver Biopsy

The gold standard for diagnosing liver fibrosis.
A small liver tissue sample is taken and examined under a microscope.
Accuracy can be affected by sample size or the biopsy technique.

Medical Treatment of Congenital Hepatic Fibrosis in Infants

The goal of medical therapy is to:

Control symptoms.
Reduce complications.
Protect the liver from further damage.

Medical Treatment for Congenital Hepatic Fibrosis in Infants

There is no definitive cure that removes liver fibrosis, but medications help the child live a better life.

Medications to Reduce Portal Hypertension

Beta-blockers: such as Propranolol, to lower pressure in the portal veins.
Goal: Prevent bleeding from esophageal and gastric varices.

Medications to Treat or Prevent Gastrointestinal Bleeding

Proton Pump Inhibitors (PPI): such as Omeprazole, to reduce stomach inflammation and protect varices.
Vasoconstrictors: used in severe bleeding cases in the hospital.

Medications to Manage Liver Complications

Fat-soluble vitamins (A, D, E, K): to compensate for deficiencies caused by fat malabsorption.
Medications to improve blood clotting if platelet deficiency or protein issues exist.

Medications to Support Liver Function

Hepatoprotective drugs: such as Ursodeoxycholic Acid, to improve bile flow and reduce liver cell damage.

Medications for Infections or Kidney-Related Problems

Some children may need antibiotics or kidney-protective drugs if fibrosis is associated with hereditary kidney diseases.

Important Notes:

Most medications aim to manage symptoms and complications, not to remove fibrosis.
Regular follow-up with a pediatrician or pediatric hepatologist is essential to monitor drug effects on the child’s growth and liver function.
In severe cases, if medications are insufficient, the child may require a liver transplant.

Surgical Treatment for Congenital Hepatic Fibrosis in Infants

In congenital hepatic fibrosis, surgery does not cure the fibrosis itself but addresses disease complications that may threaten the child’s life or growth.

Esophageal/Gastric Varices Surgery

Reason: Accumulated pressure in the portal veins can cause bleeding from varices.
Procedures:
- Endoscopic Band Ligation (tying off varices with a band)
- Sclerotherapy (injecting adhesive substances into varices)
Goal: Prevent severe bleeding and ensure the child’s safety.

Shunt Surgery (Portosystemic Shunt)

Used in children with severe portal hypertension not controlled by medications.
Goal: Reduce pressure on veins in the esophagus and stomach and prevent recurrent bleeding.

Liver Transplantation

Last resort for severe cases:
- Advanced liver failure
- Recurrent variceal bleeding or complications unresponsive to medications or minor surgeries
Goal: Replace the diseased liver with a healthy one containing normal cells to reduce complications and improve liver function.
Note: After transplantation, lifelong follow-up and immunosuppressive medications are required.

Important Notes

Surgical treatment is reserved for cases with severe complications not manageable by medications.
Most children are closely monitored by a pediatric hepatologist before and after surgery to ensure the best outcomes.
The main goal of surgery is to protect the child from bleeding or liver failure, not to remove the fibrosis itself.