The genetic and symptomatic link of polycythemia vera. narrative review
Keywords:
Polycythemia vera, JAK2, myeloproliferative neoplasmAbstract
Myeloproliferative neoplasms (MPNs), such as essential thrombocythemia (ET), primary myelofibrosis (PMF), and polycythemia vera (PV), are clonal hematologic disorders. PV is characterized by erythrocytosis, thrombophilia, and hemorrhagic diathesis, primarily attributed to the JAK2V617F mutation in the JAK2 gene, which is present in 90.7% of cases. This mutation induces hematopoietic proliferation, leading to thrombotic and hemorrhagic complications. The disease progresses slowly and may remain asymptomatic for years; however, the most common symptoms include: asthenia, aquagenic pruritus, skin redness, headache, hypertension, dizziness, dyspnea, peripheral neuropathy, idiopathic bruising, splenomegaly, hepatomegaly, and unexplained weight loss.
This narrative review aimed to analyze advances in the understanding of PV from a molecular-biological perspective to aspects of medical care, in order to establish the relationship between phenotype and the identified genetic variations, thus allowing clinical correlations to be made and facilitating differential diagnosis with other hematologic conditions. The topics included in this review were: (1) Description of myeloproliferative neoplasms, (2) Epidemiology of PV, (3) Advances in the genetic and molecular understanding of PV, (4) Clinical manifestations and differential diagnosis, and (5) Therapeutic options and emerging therapies under investigation. Additionally, the importance of genetic diagnosis was emphasized to optimize therapeutic strategies and improve patient prognosis.
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