Makindo Medical Notes

⚠️ Early diagnosis of biliary atresia is crucial to enable surgical correction and prevent secondary biliary cirrhosis. 🍼 Presents as persistent neonatal jaundice lasting >2 weeks, more common in Asian populations. ⏳ Kasai procedure ideally within 60 days gives best outcomes.

🧬 Aetiology

• 🌏 More prevalent among Asian populations; exact cause unknown.
• 🔥 Believed to result from progressive, inflammatory obliteration of the bile ducts.

🩺 Clinical Presentation

• 👶 Onset 2–8 weeks of age with neonatal cholestasis.
• 🚫 Pale (acholic) stools, 🟤 dark urine, persistent jaundice 🌕.
• 📈 Hepatomegaly early; splenomegaly may develop with disease progression.

🔎 Investigations

• 🧪 Direct Hyperbilirubinaemia: Elevated conjugated bilirubin → cholestasis.
• 🖼️ Imaging:
  • Ultrasound (USS) + MRCP to visualise biliary tree.
  • 🎯 Intraoperative cholangiography may confirm diagnosis.

💊 Management

• ✂️ Kasai Portoenterostomy: Creates new bile drainage route to intestine. Best if <8 weeks old ⏳.
• 🩸 Orthotopic Liver Transplant (OLT): Needed if Kasai fails or biliary cirrhosis develops.

🧑‍🏫 Exam Tip

Persistent neonatal jaundice >2 weeks + pale stools + dark urine = 🚨 Biliary atresia until proven otherwise. Always mention the Kasai procedure (timing within 60 days!) in exams.

Cases — Biliary Atresia

• Case 1 — Classic presentation 🚼: A 6-week-old girl is brought in with persistent jaundice since birth. Parents report pale stools and dark urine. Exam: hepatomegaly. Bloods: conjugated hyperbilirubinaemia, raised GGT. Ultrasound: absent gallbladder. Diagnosis: extrahepatic biliary atresia. Managed with urgent referral for Kasai portoenterostomy.
• Case 2 — Delayed recognition ⏳: A 10-week-old boy presents with prolonged jaundice and poor weight gain. Stools are clay-coloured, liver firm on palpation. Bloods: direct bilirubin elevated, coagulopathy. Diagnosis: biliary atresia diagnosed late, with early cirrhosis. Managed with supportive care (fat-soluble vitamin supplementation, nutrition) and assessment for liver transplantation, as Kasai success declines after 8 weeks.
• Case 3 — Syndromic association 🧬: A 7-week-old girl with polysplenia and congenital heart disease is investigated for jaundice. She has acholic stools and hepatomegaly. Cholangiogram: absent extrahepatic bile ducts. Diagnosis: biliary atresia with polysplenia syndrome. Managed with Kasai portoenterostomy, though long-term transplant is likely.

Teaching Point 🩺: Biliary atresia = progressive fibro-obliterative disease of extrahepatic bile ducts, leading to obstructive jaundice in infancy. Clues: persistent jaundice >14 days, pale stools, dark urine, hepatomegaly, raised conjugated bilirubin. Definitive treatment: Kasai portoenterostomy before 8 weeks for best outcomes, though many progress to cirrhosis and liver transplantation. Always supplement fat-soluble vitamins (A, D, E, K) and optimise nutrition.