Erythremia

Description of the disease

This is a clonal myeloproliferative disorder characterized by proliferation of all blood cell lines (abnormal growth due to cell division), with a predominance of erythropoiesis (production of red blood cells). The etiology of the disease is unknown, with a peak incidence at 60 years of age. Men are more commonly affected than women.

Symptoms

Often asymptomatic, the disease is diagnosed incidentally through a blood test. When symptoms occur, they may include: itching (especially after a hot bath), headaches and dizziness, ringing in the ears, fatigue, abdominal pain, blurred vision, nosebleeds/digestive tract bleeding.

These individuals may have higher blood pressure than normal. Facial flushing, known as plethora (increased blood volume), limb redness, and cyanosis of the lips may be observed. Complications may include thromboembolism, especially in internal organs. Hemorrhagic diathesis, recurrent internal or external bleeding, can also occur.

Diagnosis

Diagnosis is based on medical history, clinical symptoms, and blood tests (increased hematocrit – increased blood viscosity, which is dangerous due to impaired oxygen transport in the blood and the development of thromboembolisms; increased levels of red blood cells, hemoglobin, decreased erythropoietin, increased leukocytes and platelets, as well as increased uric acid in the urine).

Cardiac, pulmonary, and other internal organ examinations are performed to rule out other possible causes of erythrocytosis (e.g., congenital heart defects, primary pulmonary arterial hypertension, renal adenocarcinoma, ovarian cancer, familial erythrocytosis, etc.)

Treatment

To reduce hematocrit levels, phlebotomies are performed – the removal of blood – causing iron deficiency, which is beneficial as it slows down the recovery of excess red blood cells. Phlebotomies do not affect platelets – they remain in the blood, increasing the risk of thromboembolism. Alpha-interferon is also prescribed.

Myelosuppressive treatment with cytostatics, radioactive substances, beta-radiation is prescribed, taking into account platelet count, and the enlargement of the liver and spleen.

Symptomatic treatment includes, for example, prescribing antihistamines for itching or allopurinol for hyperuricemia.

Source | Author Doctor Nikas Samuolis, reviewed by Prof. Virginijus Šapoka | Vilnius University | Faculty of Medicine | Head of the Department of Internal Medicine, Family Medicine, and Oncology