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These clonal disorders arise from mutated hematopoietic stem cells, often involving JAK2, CALR, or MPL genes, disrupting normal blood cell regulation. Common types include polycythemia vera (erythrocytosis), essential thrombocythemia (thrombocytosis), and primary myelofibrosis (bone marrow scarring). They develop slowly, affecting older adults primarily, with risks of thrombosis, bleeding, splenomegaly, and transformation to acute myeloid leukemia.?
Symptoms and Diagnosis
Early symptoms like fatigue, itching, headaches, or night sweats may appear years later; severe cases involve anemia or gout. Diagnosis relies on blood tests showing elevated counts, bone marrow biopsy revealing hypercellularity, and genetic testing for mutations.?
Treatment Options
Management includes watchful waiting, phlebotomy for polycythemia vera, aspirin for clotting prevention, and drugs like hydroxyurea or JAK inhibitors (e.g., ruxolitinib). Stem cell transplant offers cure potential in high-risk cases, while supportive care addresses complications. Prognosis varies, with myelofibrosis being most aggressive.