218. From Leeches to Personalized Medicine - Approaches to Polycythemia Vera and Essential Thrombocythemia
Dec 10, 2023
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From the rise and fall of bloodletting in the 19th century to the current use of precision medicine, this podcast explores polycythemia vera and essential thrombocytosis. It covers the prevalence, characteristics, and complications of polycythemia vera, along with the diagnostic criteria and treatment options. The podcast also delves into essential thrombocythemia, discussing its diagnosis, causes, and management. Risk stratification and historical treatment approaches are explored, including the use of bloodletting.
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Quick takeaways
Polycythemia vera is characterized by excessive production of red blood cells and the presence of Jack 2 mutation.
When diagnosing erythrocytosis, it is important to differentiate primary causes like PV from secondary causes and assess symptoms like pruritus and erythromelalgia.
Deep dives
History and diagnosis of polycythemia vera
Polycythemia vera (PV) is the most common form of myeloproliferative disorder, characterized by excessive production of red blood cells. Almost all patients with PV have a Jack 2 mutation, which leads to activation of the Jack/STAT pathway and increased cell proliferation. Diagnosis of PV requires meeting specific criteria including elevated hemoglobin levels, bone marrow biopsy findings, and the presence of Jack 2 mutation.
Secondary etiologies and clinical evaluation
When diagnosing erythrocytosis, it is important to differentiate primary causes like PV from secondary causes. Secondary etiologies can include hypoxia-driven factors, renal hypoxia, drug-associated factors, erythropoietin production, and miscellaneous causes. Clinical evaluation involves reviewing signs and symptoms related to smoking, lung disease, renal issues, medications, and oxygen saturation. In addition, examination for spleen enlargement and assessment of symptoms like pruritus and erythromelalgia are essential.
Treatment and approach to essential thrombocythemia
Essential thrombocythemia (ET) is another myeloproliferative disorder characterized by increased platelet count. The genetic mutations associated with ET include JAK2, CALR, and MPL mutations. The diagnosis is made based on specific criteria involving platelet levels, bone marrow examination, and genetic testing. Risk stratification for ET considers factors such as age, thrombosis history, and JAK2 status. Treatment aims to prevent thrombohemorrhagic events and may involve aspirin, cytoreductive agents, and targeted therapies like JAK2 inhibitors.