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In oncology, polycythemia vera (PV) is an uncommon myeloproliferative neoplasm in which the bone marrow makes too many red blood cells. [1] The majority of cases [2] are caused by mutations in the JAK2 gene, most commonly resulting in a single amino acid change in its protein product from valine to phenylalanine at position 617.
Treatment for polycythemia varies, and typically involves treating its underlying cause. [6] Treatment of primary polycythemia (see polycythemia vera) could involve phlebotomy, antiplatelet therapy to reduce risk of blood clots, and additional cytoreductive therapy to reduce the number of red blood cells produced in the bone marrow. [7]
Hyperviscosity syndrome is a group of symptoms triggered by an increase in the viscosity of the blood. Symptoms of high blood viscosity include spontaneous bleeding from mucous membranes , visual disturbances due to retinopathy , and neurologic symptoms ranging from headache and vertigo to seizures and coma .
Hematological values such as hemoglobin, hematocrit, and red blood cell counts are elevated in patients with myomatous erythrocytosis syndrome. [3]The diagnostic criteria for myomatous erythrocytosis syndrome includes polycythemia, uterine myoma, and return of hemoglobin levels to normal following fibroid excision surgery.
The most common therapies for secondary polycythemia are phlebotomies [9] and, for paraganglioma and/or somatostatinoma in this cohort of patients, surgery accompanied by antihypertensive medication. [1] HIF-2α inhibitor belzutifan led to substantial improvement of symptoms in a patient with Pacak–Zhuang syndrome. [10]
Facial plethora is an excessive blood flow to the face and is a hallmark sign of Cushing's syndrome.The blood flow is to the superficial capillaries of the skin. [2] The increased blood flow causes swelling of the facial tissue giving the appearance of a rounded moon face made red by the increased capillary blood flow.
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