Clinical scenario: Hematemesis | portal hypertension | cause
A 12-year-old boy presents with his third episode of painless massive hematemesis. He has no history of jaundice, abdominal distension, or chronic liver disease. Examination reveals massive splenomegaly without hepatomegaly or ascites. Investigations show:
- Hemoglobin: 7.8 g/dL
- WBC: 2.9 × 10⁹/L
- Platelets: 72 × 10⁹/L
- ALT: 30 U/L
- AST: 28 U/L
- Albumin: 4.1 g/dL
- INR: 1.0
Doppler ultrasonography demonstrates non-visualization of the portal vein with multiple serpiginous collateral vessels at the porta hepatis (portal cavernoma).
What is the most likely cause of his portal hypertension?
A. Budd–Chiari syndrome
B. Cirrhosis
C. Extrahepatic portal vein obstruction
D. Congenital hepatic fibrosis
E. Sinusoidal obstruction syndrome
Correct answer & Explanation:
Correct answer: C. Extrahepatic portal vein obstruction
Explanation: portal hypertension due to extrahepatic portal vein obstruction (EHPVO)
This child has portal hypertension due to extrahepatic portal vein obstruction (EHPVO), the most common cause of portal hypertension in children.
The diagnosis is suggested by:
- Massive painless variceal bleeding
- Marked splenomegaly
- Normal liver function tests
- Normal albumin and INR, indicating preserved hepatic synthetic function
- Cavernous transformation of the portal vein on Doppler ultrasound, which is diagnostic of chronic portal vein thrombosis.
Why the other options are incorrect
A. Budd–Chiari syndrome
- Characterized by hepatic vein obstruction, painful hepatomegaly, ascites, and abnormal liver function.
B. Cirrhosis with portal hypertension
- Usually presents with impaired liver synthetic function (low albumin, prolonged INR) and often ascites.
D. Sinusoidal obstruction syndrome
- Typically occurs after chemotherapy or hematopoietic stem cell transplantation and presents with painful hepatomegaly, jaundice, and fluid retention.
E. Wilson disease
- May cause cirrhosis and portal hypertension but is usually associated with abnormal liver function and does not cause cavernous transformation of the portal vein.
High-yield pearl
In children, the combination of recurrent painless upper gastrointestinal bleeding, splenomegaly, normal liver function tests, and cavernous transformation of the portal vein is highly suggestive of extrahepatic portal vein obstruction, the leading cause of presinusoidal portal hypertension. Endoscopic therapy controls acute bleeding, while long-term management may include shunt surgery in selected patients.
