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Published on: November 5, 2019
[Chorea revealing a polycytemia vera]
I Ben Ghorbel1, T Ben Salem, M Lamloum
1Service de médecine interne, hôpital La Rabta, 1007 Tunis, Tunisia. benghorbelimed@yahoo.com
Insights
Chorea, an abnormal movement disorder, can be a key indicator of polycythemia vera (a blood disorder). Early diagnosis through blood tests in elderly patients is crucial for effective treatment and management.
Area of Science:
- Neurology
- Hematology
Background:
- Neurological symptoms are frequently observed in patients with polycythemia vera.
- Chorea, a type of hyperkinetic movement disorder, is a rare but significant neurological manifestation.
Observation:
- A 78-year-old male presented with headache and chorea.
- Laboratory results revealed elevated hemoglobin (20 g/dL) and hematocrit (62.3%), indicating absolute erythrocytosis.
- Genetic testing confirmed the presence of a JAK2 V617F mutation.
Findings:
- The patient was diagnosed with polycythemia vera-associated chorea.
- Treatment with therapeutic phlebotomy and hydroxyurea led to favorable clinical and biological outcomes.
Implications:
- This case highlights the importance of considering polycythemia vera in elderly patients presenting with chorea.
- A complete blood cell count is recommended for early detection of polycythemia vera in such cases.
- Prompt diagnosis and management can significantly improve patient outcomes.
Abstract:
Neurological manifestations in polycytemia vera are common. However, chorea is an exceptionally revealing feature of this disease. We report a 78-year-old man who presented with headache and an abnormal movement disorder corresponding to chorea. Laboratory findings showed increased levels of hemoglobin at 20 g/dl and hematocrit at 62.3%. An elevated erythrocyte mass to twice the normal value demonstrated the absolute erythrocytosis. A JAK2 V617F gene mutation was identified. A diagnosis of polycytemia vera-associated chorea was obtained. Clinical and biological outcomes were favorable after therapeutic phlebotomy and treatment with hydroxyurea. We recommend a complete blood cell count in elderly patient presenting with chorea to eliminate a diagnosis of polycytemia vera.
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