What is the management approach for a non-alcoholic patient presenting with hematemesis (vomiting blood) and splenomegaly (enlarged spleen) with a normal liver size and echo texture?

Management of Hematemesis with Splenomegaly and Normal Liver in a Non-Alcoholic Patient

This presentation strongly suggests non-cirrhotic portal hypertension (presinusoidal), most likely from extrahepatic portal vein obstruction or a myeloproliferative disorder, and requires urgent upper endoscopy to identify and treat variceal bleeding, followed by investigation of the underlying cause of portal hypertension. 1, 2

Immediate Management

Resuscitation and Stabilization

• Establish two large-bore IV cannulae and initiate aggressive fluid resuscitation with normal saline (1-2 liters initially) to achieve hemodynamic stability (pulse <100 bpm, systolic BP >100 mmHg, urine output >30 ml/hour). 1
• Transfuse red blood cells when hemoglobin is <100 g/L or if bleeding is extreme with hemodynamic instability. 1
• Insert urinary catheter for hourly urine output monitoring in severe cases. 1
• Do NOT attempt to correct abnormal coagulation parameters (INR, APTT, platelet count) prophylactically with blood products, as this does not prevent bleeding and lacks evidence of benefit. 1

Urgent Endoscopy

• Perform upper endoscopy urgently (within 12-24 hours) once hemodynamically stable to identify the bleeding source - most likely esophageal or gastric varices given the splenomegaly. 1
• Endoscopy should be performed by experienced endoscopists capable of therapeutic interventions including variceal band ligation or sclerotherapy. 1
• Consider endotracheal intubation for airway protection in patients with massive ongoing bleeding. 1

Diagnostic Evaluation for Underlying Cause

The Key Clinical Distinction

Normal liver size and echo texture with splenomegaly and hematemesis indicates presinusoidal (non-cirrhotic) portal hypertension - this is critical because patients with presinusoidal portal hypertension rarely develop ascites unless there is an acute insult like gastrointestinal hemorrhage. 1

Essential Investigations

• Complete blood count with peripheral smear to evaluate for cytopenias (thrombocytopenia, anemia) and abnormal cells suggesting myeloproliferative disorders or lymphoproliferative disease. 2, 3
• Abdominal Doppler ultrasound to assess portal vein patency, direction of flow, and splenic vein thrombosis - this is the preferred initial imaging modality. 1
• Liver function tests, including bilirubin, AST, ALT, alkaline phosphatase, GGT, albumin, and prothrombin time. 1, 2
• CT or MRI with contrast if Doppler ultrasound is inconclusive, to better characterize vascular anatomy and exclude masses. 1

Specific Testing Based on Findings

• If portal/splenic vein thrombosis identified: Investigate for hypercoagulable states (JAK2 V617F mutation, protein C/S deficiency, antiphospholipid antibodies, paroxysmal nocturnal hemoglobinuria). 1, 2
• If blood counts show cytopenias with leukocytosis/lymphocytosis: Consider bone marrow aspiration and biopsy with molecular testing for JAK2, CALR, and MPL mutations to evaluate for myeloproliferative neoplasms (primary myelofibrosis, polycythemia vera, essential thrombocythemia). 1, 2, 3
• Upper GI endoscopy will also help exclude peptic ulcer disease or gastric varices as bleeding source. 1

Differential Diagnosis Priority

Most Likely Causes in This Context

1. Extrahepatic portal vein obstruction (EHPVO) - the most common cause of non-cirrhotic portal hypertension with normal liver parenchyma. 1
2. Myeloproliferative neoplasms (primary myelofibrosis, polycythemia vera, essential thrombocythemia) - these commonly cause splanchnic vein thrombosis leading to portal hypertension and splenomegaly. 1, 2
3. Non-cirrhotic portal fibrosis (idiopathic portal hypertension) - less common but presents identically. 1
4. Congenital hepatic fibrosis - rare but causes presinusoidal portal hypertension. 1

Less Likely Given Normal Liver

• Cirrhosis is essentially excluded by normal liver size and echo texture. 1
• Budd-Chiari syndrome (hepatic vein thrombosis) typically causes hepatomegaly and ascites acutely. 1

Ongoing Management

Portal Hypertension Management

• Beta-blockers (propranolol or carvedilol) for secondary prophylaxis after variceal bleeding is controlled, to reduce portal pressure and prevent rebleeding. 1
• Endoscopic variceal ligation should be repeated at intervals until varices are eradicated. 1
• Monitor for development of ascites, though this is uncommon in presinusoidal portal hypertension unless there is ongoing bleeding or infection. 1

Splenomegaly-Specific Management

• For myeloproliferative disorders with symptomatic splenomegaly: Hydroxyurea is first-line cytoreductive therapy (effective in ~40% of patients), or JAK inhibitors (ruxolitinib) for more severe cases. 1, 2, 4
• Splenectomy should be avoided unless absolutely necessary due to 5-10% perioperative mortality and high complication rates (50%), including thrombosis, bleeding, and accelerated hepatomegaly. 1
• Partial splenic embolization is an alternative to splenectomy for refractory symptomatic splenomegaly but carries significant morbidity. 1, 4

Thrombocytopenia Management

• Platelet transfusion is NOT routinely indicated for low platelet counts alone in the absence of active bleeding or high-risk procedures. 1
• Thrombopoietin receptor agonists (avatrombopag, lusutrombopag) can be considered before planned procedures if platelet count is critically low. 1

Critical Pitfalls to Avoid

• Do not assume alcoholic liver disease even in patients with alcohol history - the normal liver excludes cirrhosis. 1
• Do not delay endoscopy for "complete workup" - hematemesis requires urgent endoscopic evaluation once stable. 1
• Do not empirically correct coagulation abnormalities with FFP or platelets before procedures - this is not evidence-based and may cause harm. 1
• Recognize that splenomegaly is an insensitive sign - up to 48% of patients with portal hypertension may not have palpable splenomegaly, but its presence with hematemesis strongly suggests varices. 5
• Be aware that presinusoidal portal hypertension behaves differently than cirrhotic portal hypertension - ascites is rare, liver function is preserved, and prognosis is generally better. 1

Follow-Up Monitoring

• Regular endoscopic surveillance for variceal recurrence (typically every 1-3 months initially, then annually). 1
• Serial imaging to monitor spleen size and portal vein patency. 2
• If myeloproliferative disorder diagnosed, hematology follow-up for disease-specific management and monitoring for transformation. 1, 2