What is the diagnosis and management plan for a patient with upper GI bleeding, suspected portal hypertension syndrome, and splenomegaly?

Diagnosis: Extrahepatic Portal Vein Obstruction (EHPVO) with Acute Variceal Hemorrhage

This 16-year-old patient with massive upper GI bleeding, splenomegaly, and portal hypertension without liver disease most likely has extrahepatic portal vein obstruction (EHPVO), also known as non-cirrhotic portal hypertension, which commonly presents with variceal bleeding as the first manifestation in young patients. 1

Key Diagnostic Features Supporting EHPVO

• Age and presentation: EHPVO typically presents in younger patients with acute variceal bleeding as the initial manifestation, contrasting with the fortuitous findings more common in modern diagnosis 1
• Normal liver enzymes: The severity of portal hypertension contrasts sharply with normal transaminases, alkaline phosphatase, and gamma-glutamyl transferase, which is characteristic of EHPVO rather than cirrhosis 1
• Splenomegaly with hypersplenism: The combination of splenomegaly and suspected hypersplenism (platelets 173k, though not severely reduced) is consistent with portal hypertension from venous obstruction 1
• No stigmata of chronic liver disease: Absence of jaundice, ascites (initially), or encephalopathy despite massive bleeding strongly suggests non-cirrhotic portal hypertension 1

Critical Diagnostic Workup Required

Immediate imaging with CT or MRI with portal venous phase contrast is essential to confirm portal vein patency versus thrombosis/cavernomatous transformation. 1, 2

• Look for portal cavernoma: The hallmark finding is cavernomatous transformation—porto-portal collaterals that develop when the portal vein lumen obliterates after acute thrombosis 1
• Assess for prothrombotic conditions: Given the patient's young age, investigate for underlying prothrombotic disorders (personal/familial history of unprovoked DVT, inherited thrombophilias) 1
• Rule out splenic vein thrombosis: This can cause isolated left-sided (sinistral) portal hypertension with gastric varices and splenomegaly 1

Acute Management Protocol

1. Immediate Resuscitation and Pharmacologic Control

Restrictive transfusion strategy targeting hemoglobin 7-9 g/dL is superior to liberal transfusion, reducing mortality and rebleeding risk. 1

• Vasoactive drugs: Initiate immediately before endoscopy—terlipressin, octreotide, or somatostatin reduce splanchnic blood flow and portal pressure, improving 5-day hemostasis from 58% to 77% when combined with endoscopy 1
• Antibiotic prophylaxis: Start immediately upon admission—reduces mortality (RR 0.79), bacterial infections (RR 0.35), and rebleeding (RR 0.53) in all patients with cirrhosis and upper GI bleeding 1
  • Critical caveat: While evidence is strongest for cirrhotic patients, antibiotic prophylaxis should be administered in this case given the life-threatening nature of the bleed 1

2. Endoscopic Therapy

Endoscopic variceal ligation (EVL) is the treatment of choice for esophageal varices, achieving 85-90% initial hemostasis rates. 1, 3

• Timing: Perform after initial resuscitation when patient is stable and bleeding has slowed—early vasoactive agents facilitate endoscopy and improve outcomes 1
• Technique: EVL is preferred over sclerotherapy for esophageal varices due to fewer complications 1
• For gastric varices: If GOV2 or IGV1 varices are identified, cyanoacrylate injection is the endotherapy of choice 4
• Post-procedure PPI: Administer proton pump inhibitors to reduce post-EVL ulcer size and bleeding risk 1, 5

3. Rescue Therapy if Endoscopic Failure

TIPS (transjugular intrahepatic portosystemic shunt) is recommended for variceal bleeding refractory to combined pharmacologic and endoscopic therapy. 4

• Advantage in EHPVO: Unlike cirrhotic patients, those with EHPVO have preserved liver function, making TIPS safer with lower encephalopathy risk 1
• Pre-emptive TIPS: Consider in high-risk patients with active bleeding at endoscopy who fail initial control 1

Secondary Prophylaxis Strategy

Combination therapy with non-selective beta-blockers (NSBBs) plus repeat EVL is the standard approach for preventing rebleeding. 1

Pharmacologic Options:

• NSBBs (propranolol or nadolol): Titrate to resting heart rate 55-60 bpm, reducing portal pressure by >20% or to <12 mmHg 1
• Carvedilol: Alternative NSBB with additional alpha-blocking properties 1

Endoscopic Schedule:

• Repeat EVL every 2-8 weeks until variceal eradication (varices too small to ligate) 1
• Surveillance endoscopy: 1-6 months after eradication, then every 6-12 months 1

Long-term Management Considerations Specific to EHPVO

Anticoagulation should be strongly considered in EHPVO patients after acute bleeding is controlled, particularly if prothrombotic conditions are identified. 1

• Rationale: Prevents recurrent thrombosis (occurs in 40-42% of EHPVO patients) and may promote portal vein recanalization 1
• Timing: Assess at 6-12 months with CT to evaluate recanalization status 1
• Contraindications: Past history of intestinal ischemia is a relative contraindication 1

Surveillance Requirements:

• Screen for varices: If portal vein remains unrecanalised, continue variceal surveillance 1
• Monitor for biliary complications: Portal cholangiopathy (bile duct compression by cavernoma) occurs in some patients—perform MRCP if cholestasis develops 1
• Watch for recurrent bleeding: Most frequent complication in EHPVO, with previous bleeding and large varices as independent predictors 1

Critical Pitfalls to Avoid

• Do not assume cirrhosis: Normal liver enzymes and young age should prompt investigation for EHPVO rather than defaulting to cirrhosis diagnosis 1
• Avoid over-transfusion: Liberal transfusion increases portal pressure and worsens outcomes—target Hgb 7-9 g/dL 1
• Do not delay antibiotics: Start prophylactic antibiotics immediately, not after endoscopy 1
• Do not forget thrombophilia workup: Underlying prothrombotic conditions drive recurrent thrombosis risk and influence anticoagulation decisions 1