BA is a rare orphan newborn liver disease that involves a rapid and progressive inflammatory and fibrotic process causing partial or complete obliteration of the extrahepatic –and often intrahepatic –bile ducts. Initiation of the injury occurs before or soon after birth and is recognised as one of the most rapidly progressive liver diseases known to man. Without intervention all infants with BA will die by 3 years of age.
This blog explores the basics of biliary atresia, its management, and why specialized care is critical for affected infants.
Understanding Biliary Atresia
Key Facts About BA:
- Affects approximately 0.55 – 1.3 in 10,000 live births worldwide. Data for South Africa is incomplete and the exact incidence in our population is unknown.
- Responsible for 25 –40 % of all cholestasis within the first few months of life
- Symptoms typically appear within the first few weeks of life and are often detected during well baby visits but misinterpreted.
- Without timely treatment, liver scarring (cirrhosis) develops rapidly.
- Optimal intervention with Kasai is within 60 days of life.
- The most frequent reason for liver transplantation in childhood and the leading cause of liver related death in children
Signs and Symptoms
Early identification is critical for successful treatment. Doctors should be vigilant for the following signs in newborns:
- Persistent Jaundice: Jaundice lasting beyond 2 weeks of age, especially with conjugated hyperbilirubinemia.
- Pale or Clay-Coloured Stools: Indicative of reduced bile flow into the intestines. One third of physicians and 2/3 of parents are unable to accurately assess stool colour, therefore a stool colour chart should always be consulted.
- Dark Urine: Suggesting excess bilirubin excretion through the kidneys.
- Poor Weight Gain or Failure to Thrive: Due to malabsorption and liver dysfunction. This may be a later clinical feature of the condition and a thriving child should not give the attending Doctor a false sense of security in excluding liver disease.
- Hepatomegaly: Enlarged, firm liver detectable on physical examination.
Management and Importance of Early Intervention
The Kasai Procedure:
- A surgical intervention where the damaged bile ducts are replaced with a loop of the intestine to restore bile flow.
- Optimal timing is before 60 days of age for the best chance of success.
Liver Transplantation:
- For infants who fail the Kasai procedure or present with advanced liver disease, liver transplantation is the definitive treatment.
Role of the Doctor:
- Early Diagnosis: Doctors play a pivotal role in identifying signs of BA and initiating appropriate investigations, including:
- Serum bilirubin including conjugated fraction. Conjugated bilirubin measurements are critically important to exclude a conjugated hyperbilirubinemia.
- Liver function tests.
- Abdominal ultrasound. However, a present gallbladder does not definitively exclude the diagnosis of BA.
- Referral for a on table cholangiogram or liver biopsy.
- Timely Referral:
- Infants suspected of having BA must be referred to a centre with paediatric hepatology and surgical expertise.
- Delays in referral reduce the efficacy of the Kasai procedure and limit treatment options.
The Need for Specialized Care
Biliary atresia requires multidisciplinary expertise that is often unavailable in general paediatric settings. Specialized care ensures:
- Accurate Diagnosis:
- Differentiating BA from other causes of neonatal jaundice requires advanced diagnostic tools and experienced clinicians.
- Surgical Expertise:
- The Kasai procedure is complex and best performed by surgeons with experience in paediatric hepatobiliary surgery.
- Comprehensive Management:
- Specialized centres provide long-term monitoring, nutritional support, and management of complications such as portal hypertension and infections.
- Access to Transplant Services:
- Paediatric liver transplant centres offer life-saving options for children with end-stage liver disease.
Challenges in South Africa
In South Africa, biliary atresia care is complicated by:
- Limited Specialized Centres: Only a few institutions, such as the Wits Donald Gordon Medical Centre and Red Cross Children’s Hospital, offer paediatric hepatology and transplant services.
- Delayed Referrals: Late presentation due to lack of awareness among primary care providers.
- Resource Constraints: Geographic and financial barriers to accessing care.
Improving Outcomes: What Doctors Can Do
- Raise Awareness:
Educate parents about the importance of monitoring jaundice and stool colour in newborns. - Monitor Newborn Jaundice:
Persistent jaundice should always prompt further investigation, especially in the presence of pale stools or dark urine. - Advocate for Specialized Care:
Work with families to navigate referral pathways to specialized centres for timely diagnosis and treatment. - Support Organ Donation Campaigns:
Liver transplantation depends on the availability of donor organs, highlighting the need for robust organ donation awareness.
Conclusion
Biliary atresia is a challenging but treatable condition when managed promptly and appropriately. Doctors are the first line of defence, playing a critical role in early identification and referral to specialized care. By prioritizing awareness, timely intervention, and collaboration with paediatric hepatology centres, we can significantly improve the outlook for children with biliary atresia in South Africa.
Together, we can give these children the chance to thrive.
For more information or referral pathways, contact your nearest paediatric hepatology centre or liver transplant program.
