Chorea, Pruritus and Polycythemia: Looking for Clues

Area of Science:

• Neurology
• Hematology
• Genetics

Background:

• Chorea is a movement disorder with diverse etiologies, including vascular, hereditary, metabolic, and drug-induced causes.
• Polycythemia vera (PV) is an uncommon cause of chorea, predominantly affecting elderly women.
• Identifying PV as a cause of chorea is crucial as it is a treatable condition.

Purpose of the Study:

• To report a case of chorea secondary to polycythemia vera in an elderly woman.
• To highlight the importance of considering PV in the differential diagnosis of chorea in the elderly.
• To demonstrate the efficacy of PV treatment in resolving chorea.

Main Methods:

• Case report of a 75-year-old woman presenting with chorea.
• Hematological evaluation revealing attributes of PV.
• Genetic testing for Janus Kinase 2 (JAK2) gene mutation.
• Treatment with hydroxyurea.

Main Results:

• The patient exhibited involuntary movements characteristic of chorea.
• Hematological findings confirmed PV with a JAK2 mutation.
• Treatment with hydroxyurea resulted in significant reduction of chorea symptoms.
• Improvement in hematological parameters was observed post-treatment.

Conclusions:

• Polycythemia vera is a treatable myeloproliferative disorder that can cause chorea.
• Early diagnosis and management of PV are essential for chorea resolution.
• Treatment strategies for PV include hydroxyurea for high-risk cases and aspirin/phlebotomy for low-risk cases.