Diagnosis: Non-Cirrhotic Portal Hypertension with Esophageal Varices
This 15-16 year old patient most likely has extrahepatic portal vein obstruction (EHPVO) or splenic vein thrombosis causing non-cirrhotic portal hypertension, presenting with acute variceal hemorrhage. The combination of splenomegaly, high-risk esophageal varices, recent malaria treatment (which can be associated with portal vein thrombosis), absence of chronic liver disease symptoms, and lack of liver dysfunction strongly suggests a vascular etiology rather than cirrhosis 1.
Key Diagnostic Features Supporting Non-Cirrhotic Portal Hypertension
The clinical presentation is classic for EHPVO in a young patient:
Splenomegaly with preserved liver function - The enlarged spleen without jaundice, ascites, or encephalopathy indicates portal hypertension without significant hepatocellular dysfunction, which is characteristic of EHPVO 1.
Age and absence of chronic liver disease - EHPVO commonly presents in children and adolescents, whereas cirrhotic portal hypertension typically occurs in adults with known liver disease 1, 2.
Variceal bleeding as presenting feature - While gastrointestinal bleeding has become less common as the initial presentation of EHPVO due to earlier diagnosis, it remains a significant mode of presentation, particularly in resource-limited settings 1.
Recent infection as potential trigger - Malaria and other infections can precipitate portal vein thrombosis, especially in patients with underlying prothrombotic conditions 1.
Immediate Management Already Initiated (Appropriate)
The endoscopic intervention with variceal ligation and cyanoacrylate injection was the correct acute management:
Endoscopic variceal ligation (EVL) is the treatment of choice for acute esophageal variceal bleeding 3, 4, 5.
Cyanoacrylate glue injection suggests treatment of gastric varices, which is appropriate as this is the recommended therapy for gastric variceal bleeding 1, 5.
Blood transfusion - The 2-unit transfusion was appropriate, though a restrictive strategy targeting hemoglobin 7-9 g/dL should be maintained to avoid increasing portal pressure 3, 4.
Current Medical Regimen to Prevent Re-bleeding
The patient should be on the following medications:
Vasoactive agents (octreotide or terlipressin) should have been started immediately upon presentation and continued for 2-5 days 3, 4.
Prophylactic broad-spectrum antibiotics (such as ceftriaxone) for 7 days to prevent bacterial infections, which occur in 20-50% of patients with variceal bleeding 3, 4.
Proton pump inhibitor therapy to promote healing of any mucosal injury 3.
Essential Diagnostic Workup Required
Immediate vascular imaging is critical to confirm the diagnosis:
Doppler ultrasound followed by CT or MR angiography to evaluate for portal vein thrombosis, splenic vein thrombosis, or cavernous transformation of the portal vein 1.
Look for absence of visible portal vein lumen and presence of serpiginous collateral vessels (cavernoma) on imaging, which confirms EHPVO 1.
Thrombophilia workup including JAK2 mutation, paroxysmal nocturnal hemoglobinuria (PNH) testing, and inherited thrombophilic factors should be performed to identify underlying prothrombotic conditions 1.
Liver function tests - Normal or near-normal transaminases, alkaline phosphatase, and bilirubin would support non-cirrhotic portal hypertension rather than cirrhosis 1.
Long-Term Management Plan
Secondary prophylaxis to prevent re-bleeding requires combination therapy:
Repeat EVL every 2-8 weeks until variceal eradication is achieved 3.
Non-selective beta-blockers (propranolol or nadolol) should be initiated once acute bleeding is controlled and continued long-term 6, 3, 5.
Combination of EVL plus beta-blockers is superior to either modality alone for preventing variceal re-bleeding 3, 4.
Critical Pitfalls to Avoid
Do not assume cirrhosis in a young patient with varices - The absence of stigmata of chronic liver disease, normal liver function, and presence of isolated splenomegaly should prompt investigation for non-cirrhotic causes of portal hypertension 1, 2.
Do not over-transfuse - Targeting hemoglobin >9 g/dL increases portal pressure and rebleeding risk; maintain restrictive strategy with goal 7-9 g/dL 3, 4.
Do not delay vascular imaging - Identifying portal or splenic vein thrombosis is essential as it changes long-term management and may require anticoagulation if acute thrombosis is identified 1.
Screen for splenic vein thrombosis specifically - Isolated gastric varices (suggested by cyanoacrylate use) should raise suspicion for splenic vein thrombosis, which may require splenectomy rather than TIPS 1.
Prognosis and Follow-up
The prognosis for non-cirrhotic portal hypertension is generally better than cirrhotic portal hypertension:
Bleeding risk remains equivalent to cirrhotic patients and requires identical prophylactic management 6.
Long-term survival is superior due to preserved liver function, but variceal bleeding remains the most frequent complication requiring lifelong surveillance 1, 6.
Regular endoscopic surveillance every 1-2 years after variceal eradication to monitor for recurrence 3.
Growth monitoring is essential in pediatric/adolescent patients as growth failure can occur with chronic portal hypertension 1.