Introduction
As we observe Rare Disease Month, it’s crucial to highlight rare paediatric liver diseases—a group of conditions that, although individually uncommon, collectively have a significant impact on children’s health. Many of these conditions are underdiagnosed or misdiagnosed, leading to delays in treatment and, in some cases, preventable progression to end-stage liver disease or transplantation.
For paediatricians, gastroenterologists, and general practitioners, recognizing key signs and symptoms early can be life-changing for these children. This blog aims to increase awareness and emphasize the importance of early referral to a paediatric hepatologist.
Why Early Diagnosis is Critical
Paediatric liver diseases often present subtly before progressing to irreversible liver damage. Symptoms like persistent jaundice, pruritus, growth failure, coagulopathy, hepatosplenomegaly, or unexplained liver enzyme abnormalities should always prompt further investigation.
A timely diagnosis allows for:
✔ Targeted medical management to slow or prevent progression.
✔ Nutritional optimization to support growth and development.
✔ Monitoring and managing complications such as portal hypertension.
✔ Considering liver transplantation at the right time before a child deteriorates.
Key Rare Paediatric Liver Diseases Physicians Should Recognize
1. Alagille Syndrome (ALGS)
A multisystem genetic disorder affecting the bile ducts and heart amongst multiple systems.
🔹 Clues: Cholestasis, severe pruritus, characteristic facial features, vertebral anomalies, congenital heart defects.
🔹 Key Tests: Liver biopsy, cardiac evaluation, genetic testing (JAG1/NOTCH2 mutations).
2. Wilson’s Disease
A disorder of copper metabolism leading to hepatic and neurological dysfunction.
🔹 Clues: Acute liver failure with Coombs-negative haemolysis, unexplained neuropsychiatric symptoms in older children.
🔹 Key Tests: Serum ceruloplasmin, 24-hour urinary copper, slit-lamp examination, liver biopsy dry copper weight, ATP7B genetic testing.
3. Congenital Hepatic Fibrosis (CHF)
A fibropolycystic liver disease often associated with autosomal recessive polycystic kidney disease (ARPKD).
🔹 Clues: Portal hypertension (massive splenomegaly, varices), relatively well-preserved liver function, kidney involvement.
🔹 Key Tests: Ultrasound/MRI, kidney function tests, genetic testing for PKHD1 mutations.
4. Polycystic Liver Disease (PLD)
A genetic disorder due to ductal plate malformation resulting in numerous cysts spread throughout the liver parenchyma.
🔹 Clues: Enlarged cystic liver, abdominal distension, associated kidney cysts.
🔹 Key Tests: Imaging (MRI/CT/US), renal function tests, family history.
5. Hepatoblastoma
The most common liver cancer in children, usually diagnosed in the first three years of life.
🔹 Clues: Asymptomatic abdominal mass, weight loss, elevated alpha-fetoprotein (AFP).
🔹 Key Tests: Abdominal ultrasound, AFP levels, liver biopsy.
6. Progressive Familial Intrahepatic Cholestasis (PFIC)
A group of genetic disorders causing severe cholestasis and liver failure in childhood due to impaired bile acid transport.
🔹 Clues: Persistent pruritus, cholestatic jaundice, hepatomegaly, and progressive liver fibrosis despite medical treatment.
🔹 Key Tests: Serum bile acids, liver biopsy (canalicular cholestasis), genetic testing (ATP8B1, ABCB11, ABCB4 mutations).
When to Refer to a Paediatric Hepatologist?
📌 Persistent neonatal or prolonged cholestatic jaundice (>2 weeks in term infants) and new onset cholestatic jaundice in infants and children
📌 Unexplained hepatosplenomegaly or progressive liver dysfunction
📌 Recurrent or severe pruritus, especially in the absence of skin disease
📌 Features of portal hypertension (varices, splenomegaly, thrombocytopenia)
📌 Acute liver failure or rapidly deteriorating liver function
📌 Suspected metabolic/genetic liver disease based on family history
Final Thoughts
While these diseases are rare, early recognition and referral can improve outcomes and, in some cases, prevent liver transplantation. As part of Rare Disease Month, let’s increase awareness among healthcare providers and ensure that no child with a treatable or manageable liver disease is overlooked.
📣 If you suspect a rare liver disease in a child, refer early and investigate comprehensively!
#RareDiseaseMonth #PaediatricLiverDisease #EarlyDiagnosisSavesLives #LiverHealth #Hepatology
