A 65-Year-Old with Headache, Stroke, and Splenomegaly

 

🔹 INTERNAL MEDICINE CLINICAL CASE QUIZ

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📋 HISTORY

• 👨 65-year-old businessman
• ❌ Non-diabetic
• 🤕 Frequent headache for 4 months
• 👁️ Blurred vision for 4 months
• 😫 Fatigue for 4 months
• 👃 Episodic epistaxis
• 🧴 Generalized itching for 2 months
• 🧠 Acute ischemic stroke with left-sided hemiparesis 6 months ago

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🔍 EXAMINATION

• BP: 170/90 mmHg
• Pulse: 88 bpm, regular
• Spleen palpable 8 cm below left costal margin

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🧪 INVESTIGATIONS

Investigation	Result
Hemoglobin	20.5 g/dL
Hematocrit	65%
WBC	15,000/mm³
Platelet Count	650,000/mm³
Serum EPO	Low
JAK2 Mutation	Positive
Serum Uric Acid	Elevated
Bone Marrow	Panmyelosis

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❓ QUESTION

What is the most likely diagnosis?

A. Chronic Myeloid Leukemia (CML)
B. Secondary Polycythemia
C. Polycythemia Vera
D. Essential Thrombocythemia

✅ Click to Reveal Answer

✅ Answer: Polycythemia Vera

The patient has:

• Headache
• Blurred vision
• Aquagenic pruritus
• Epistaxis
• Prior ischemic stroke
• Splenomegaly
• Elevated Hb/HCT
• Low EPO level
• Positive JAK2 mutation

These findings are classic for Polycythemia Vera (PV).

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❌ WHY NOT OTHERS?

Option	Reason
CML	BCR-ABL positive, marked leukocytosis predominates
Secondary Polycythemia	High EPO level, JAK2 negative
Essential Thrombocythemia	Platelets elevated without marked erythrocytosis

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💎 PHYSICAL EXAMINATION PEARLS

• Plethoric facial appearance
• Hypertension common
• Splenomegaly in majority of patients
• Retinal venous engorgement
• Signs of thrombosis may be present
• Gouty tophi may occur

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🎯 INVESTIGATIONS: CHOOSING WISELY

1. CBC with hematocrit
2. Serum erythropoietin level
3. JAK2 mutation analysis
4. Bone marrow biopsy
5. Serum uric acid
6. Peripheral blood film
7. LDH level
8. Oxygen saturation
9. Abdominal ultrasonography
10. Exclude secondary causes of erythrocytosis

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💊 MANAGEMENT

• Low-dose aspirin
• Therapeutic phlebotomy
• Maintain hematocrit below 45%
• Hydroxyurea for high-risk patients
• Interferon-alpha when indicated
• Ruxolitinib in resistant disease
• Control cardiovascular risk factors
• Treat hyperuricemia

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📊 DIFFERENTIAL DIAGNOSIS

Disease	EPO	JAK2	Key Feature
Polycythemia Vera	Low	Positive	Panmyelosis
Secondary Polycythemia	High	Negative	Hypoxia/EPO excess
CML	Normal	Negative	BCR-ABL positive
Essential Thrombocythemia	Normal	Variable	Marked thrombocytosis

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⚠️ CLINICAL PITFALLS

• Ignoring aquagenic pruritus
• Missing PV in stroke patients
• Failure to measure hematocrit
• Confusing PV with dehydration
• Delayed JAK2 testing
• Not assessing thrombotic risk

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🌟 CLINICAL PEARLS

• Aquagenic pruritus is highly suggestive of PV.
• JAK2 mutation is present in over 95% of cases.
• Stroke may be the first presentation.
• Low EPO supports primary polycythemia.
• Thrombosis is the major cause of morbidity.
• Splenomegaly is common.
• Maintain hematocrit below 45%.

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❓ FAQ

1. What causes itching in PV?
2. Which mutation is most common?
3. Why does thrombosis occur?
4. What is the target hematocrit?
5. Is EPO high or low?
6. What is first-line treatment?
7. Can PV transform to leukemia?
8. What causes splenomegaly?
9. What is the major complication?
10. How is diagnosis confirmed?

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📚 KEY GUIDELINES & REFERENCES

1. WHO Polycythemia Vera Criteria
2. European LeukemiaNet Guidelines
3. British Society for Haematology Guidelines
4. NCCN MPN Guidelines
5. ESMO Clinical Practice Guidelines
6. ASH Recommendations
7. Harrison's Internal Medicine
8. Oxford Handbook of Clinical Medicine
9. UpToDate Review of PV
10. McMullin MF PV Management Update

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🔑 KEYWORDS

Polycythemia Vera, JAK2 Mutation, Myeloproliferative Neoplasm, Stroke and Polycythemia, Aquagenic Pruritus, Splenomegaly, Low EPO, Hematology MCQ, Internal Medicine Quiz, PV Case Challenge

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