A 15 yrs male presented with complaints of blood vomiting 1 time with

A 15 yrs male presented with complaints of blood vomiting 1 time with chest pain and head reeling with noramla vitals. Hb - 14.5 Mcv - 70.9 Rdw(cv) -17.4 Tlc - 6.85 Red blood cell count - 6.89 million Previously he had history of blood vomiting 3 times with chest pain and head reeling followed by loss of consciousness H e had history of cholelithiasis also seizure episode 2 times Investigation done NCCT head twith normal finding Cect abdomen normal finding , eeg normal finding ,ct angiography of abdomen with Normal findings Suggest possible differential diagnosis

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hematemesis chest pain syncope seizure cholelithiasis adolescent

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hereditary spherocytosis hematemesis cholelithiasis seizure

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sickle cell disease hematemesis cholelithiasis cerebrovascular

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hemolytic anemia cholelithiasis portal hypertension adolescent

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15 year old hematemesis chest pain syncope seizure cholelithiasis microcytic anemia high RBC count differential diagnosis

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thalassemia portal hypertension varices hematemesis

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Differential Diagnosis - 15-Year-Old Male with Recurrent Hematemesis, Chest Pain, Syncope, Seizures & Cholelithiasis

Clinical Summary & Key Clues

Before listing differentials, note the critical CBC pattern:

Hb 14.5 g/dL - normal (not anemic despite blood loss history!)
MCV 70.9 fL - microcytic
RDW(CV) 17.4% - elevated (significant anisocytosis)
RBC count 6.89 million/µL - markedly elevated (normal male 4.5-5.5 million)

This combination of normal/high Hb + microcytosis + elevated RBC count + high RDW is the classic fingerprint of thalassemia trait or thalassemia intermedia, NOT iron deficiency (which gives low/normal RBC count). The Mentzer Index = MCV/RBC = 70.9/6.89 = 10.3 (<13 = thalassemia, >13 = IDA) - strongly favoring thalassemia.

PRIMARY DIFFERENTIAL: Beta-Thalassemia Intermedia with Complications

This single unifying diagnosis explains virtually all findings:

Feature	Explanation
Microcytic anemia with high RBC	Ineffective erythropoiesis + compensatory erythrocyte proliferation
Cholelithiasis (pigment stones)	Chronic hemolysis → excess bilirubin → pigment gallstone formation (up to 63% of patients; - Bailey & Love's Surgery, p. 4069)
Hematemesis (recurrent)	Extramedullary hematopoiesis → hepatosplenomegaly → portal hypertension → esophageal/gastric varices
Chest pain	Variceal bleed, bone pain from marrow expansion, or pulmonary hypertension (seen in thalassemia intermedia)
Head reeling + syncope (loss of consciousness)	Acute variceal hemorrhage causing transient hypoperfusion, or cerebrovascular events from hypercoagulability
Seizures (2 episodes)	Cerebrovascular disease (ischemic stroke from hypercoagulability in thalassemia intermedia) - NCCT normal because early/lacunar
Normal vitals currently	Compensated state between bleeding episodes
CT angio abdomen normal	Vascular supply intact; varices typically need endoscopy/portal venous phase, not CT angio of arterial phase

DIFFERENTIAL DIAGNOSES (Ranked by Probability)

1. Beta-Thalassemia Intermedia (Most Likely)

Classic CBC: high RBC, low MCV, elevated RDW, normal or near-normal Hb
Complications: pigment cholelithiasis, splenomegaly, portal hypertension, esophageal varices, hypercoagulability with cerebral venous/arterial thrombosis
Confirm with: Hb electrophoresis (elevated HbA2 >3.5%, elevated HbF), peripheral smear (target cells, poikilocytes, nucleated RBCs), serum ferritin (elevated), reticulocyte count

2. Hereditary Spherocytosis (HS) with Portal Hypertension

Autosomal dominant; presents in adolescence
Pigment gallstones in up to 63% of cases (- Maingot's Abdominal Operations)
Hemolytic crises can cause severe jaundice and pigment stone formation
Portal hypertension from hepatic siderosis/cirrhosis → varices → hematemesis
CBC: usually normocytic (spherocytes are small but MCV borderline); splenomegaly prominent
Confirm with: osmotic fragility test, eosin-5-maleimide (EMA) flow cytometry, peripheral smear showing spherocytes

3. Sickle Cell Disease / Sickle-Thalassemia

Causes pigment cholelithiasis, vaso-occlusive crises (chest pain = acute chest syndrome), cerebrovascular accidents (explaining seizures)
However: Hb would typically be lower (7-9 g/dL in SS disease); the high RBC count here favors thalassemia over SS disease
Sickle-beta-thalassemia (HbS/β-thal) can present with milder anemia and a higher RBC
Confirm with: Hb electrophoresis (HbS band), sickle solubility test

4. Non-Cirrhotic Portal Hypertension (NCPH) / Extrahepatic Portal Vein Obstruction (EHPVO)

A major cause of recurrent hematemesis with variceal bleeding in young patients in South Asia
Child presents with upper GI bleed, splenomegaly, but preserved liver function
EHPVO (portal vein thrombosis) can cause portal hypertension with varices even with normal liver
The normal CECT abdomen is unusual but possible if done without proper portal venous phase or if varices are submucosal
Seizures could be coincidental febrile seizures or unrelated epilepsy
Cholelithiasis would be incidental here
Confirm with: Upper GI endoscopy (esophageal varices grade?), Doppler ultrasound of portal vein, liver biopsy

5. Mallory-Weiss Tear / Peptic Ulcer Disease

Less likely given the recurrent nature over multiple episodes with syncope
Mallory-Weiss: mucosal tear at GE junction from forceful vomiting/retching
Would not explain cholelithiasis or seizures
Could be a secondary diagnosis contributing to bleeding on a background of portal hypertension

6. Hereditary Hemorrhagic Telangiectasia (HHT / Osler-Weber-Rendu)

Autosomal dominant; causes mucocutaneous telangiectasias, GI AVMs, pulmonary AVMs (chest symptoms), cerebral AVMs (seizures), and upper GI bleeds
Look for: nasal telangiectasias on skin/lips/mucosa, family history of nosebleeds/GI bleed
Cholelithiasis would be incidental
Confirm with: clinical criteria (Curacao criteria), contrast echocardiogram, CT for pulmonary/cerebral AVMs

7. Dieulafoy Lesion

Large caliber aberrant submucosal artery, usually in proximal stomach
Causes massive recurrent GI bleeds without other findings
No explanation for cholelithiasis, seizures, or the CBC pattern
Only possible if the hematemesis is isolated - less likely here

Recommended Investigations (Priority Order)

Peripheral blood smear - target cells, spherocytes, sickling, poikilocytes
Hb electrophoresis (HPLC) - diagnose thalassemia, sickle cell trait/disease
Upper GI endoscopy - identify varices, peptic ulcer, Dieulafoy, Mallory-Weiss
Doppler USG portal vein - portal vein thrombosis, spleen size, hepatic blood flow
Serum ferritin, TIBC, iron - differentiate thalassemia from iron deficiency
Serum bilirubin (indirect), LDH, reticulocyte count - confirm hemolysis
Osmotic fragility / EMA test - if spherocytosis suspected
Coagulation profile (PT, aPTT) - assess liver synthetic function, hypercoagulability
MRI brain - more sensitive than NCCT for cerebral venous thrombosis/ischemic stroke (explains seizures)
EEG was done and normal - reduces likelihood of primary epilepsy

Summary

The most likely unifying diagnosis in this adolescent is Beta-Thalassemia Intermedia causing:

Pigment cholelithiasis from chronic hemolysis
Esophageal varices from portal hypertension (extramedullary hematopoiesis/hepatic involvement) → recurrent hematemesis
Cerebrovascular events from hypercoagulability → seizures and syncope
Chest pain from pulmonary hypertension, variceal bleed, or chest crisis

The "normal vitals" and Hb of 14.5 g/dL are consistent with thalassemia intermedia, where patients compensate well between crises. The key next step is Hb electrophoresis by HPLC and urgent upper GI endoscopy.

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