Polycythemia (Elevated Red Blood Cell Count)

  • Medical Author:
    Siamak N. Nabili, MD, MPH

    Dr. Nabili received his undergraduate degree from the University of California, San Diego (UCSD), majoring in chemistry and biochemistry. He then completed his graduate degree at the University of California, Los Angeles (UCLA). His graduate training included a specialized fellowship in public health where his research focused on environmental health and health-care delivery and management.

  • Medical Editor: Charles Patrick Davis, MD, PhD
    Charles Patrick Davis, MD, PhD

    Charles Patrick Davis, MD, PhD

    Dr. Charles "Pat" Davis, MD, PhD, is a board certified Emergency Medicine doctor who currently practices as a consultant and staff member for hospitals. He has a PhD in Microbiology (UT at Austin), and the MD (Univ. Texas Medical Branch, Galveston). He is a Clinical Professor (retired) in the Division of Emergency Medicine, UT Health Science Center at San Antonio, and has been the Chief of Emergency Medicine at UT Medical Branch and at UTHSCSA with over 250 publications.

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When should I see a doctor about polycythemia?

In cases of unstoppable bleeding (hemorrhage), severe breathing difficulty, shortness of breath, or symptoms suggestive of a stroke (weakness on one side or difficulty speaking, for example), prompt evaluation by a physician or an immediate visit to the emergency room is advised.

People with polycythemia are seen routinely based on the recommendation of the treating doctor. Commonly these patients are seen by their primary care physicians, internists, lung doctors (pulmonologists), or blood specialists (hematology oncology).

How is polycythemia diagnosed?

Polycythemia may be diagnosed incidentally on routine blood work. Hemoglobin, hematocrit, and red blood cell concentration are typically found on a complete blood count (CBC). Repeating the laboratory tests (blood work) to confirm the diagnosis is usually advised to rule out possible laboratory or drawing errors.

More importantly, the cause of polycythemia needs to be determined. Medical history and physical examination are important components of the evaluation of polycythemia. The history usually includes questions about smoking history, living at high altitudes for extended periods, breathing difficulties, sleep disturbances, or chronic cough. Other parts of the history may focus on a prior diagnosis of lung disease, heart disease, kidney or liver cancer, bleeding or clotting problems.

A complete physical examination including the assessment of body habitus (stature), vital signs, oxygen saturation, heart and lung exams, and evaluating for an enlarged spleen (splenomegaly) are essential in the evaluation of people with polycythemia.

Evidence of a long standing low body oxygen level (chronic hypoxia) is an important clue in patients with polycythemia. Signs of long standing hypoxia may include cyanosis (blue or purple appearing finger, nail, earlobes, or lips), clubbing of the fingers (elevation of the nail beds outward), or pursed lip breathing. Redness of the palms and soles may be another sign of polycythemia.

A chest X-ray, electrocardiogram (EKG), and echocardiogram may be performed to screen for lung disease or heart disease. Hemoglobin analysis may be necessary if conditions with high affinity for oxygen or 2, 3-BPG deficiency are suspected. If carbon monoxide poisoning is in question, its level can be detected by a blood test.

Erythropoietin (EPO) blood levels may also be helpful, although the results need to be interpreted carefully as the level may be high in response to chronic hypoxia. In polycythemia vera, the EPO levels are low as a response to an increased production of red blood cells. In tumors secreting erythropoietin, the EPO levels may be abnormally high.

The diagnosis of polycythemia vera requires special attention. There have been traditional diagnostic criteria for this condition. However, in 2008, the world health organization (WHO) established the most recent guidelines. The guidelines include major and minor criteria.

  • The major criteria for polycythemia vera include a hemoglobin level of greater than 18.5 gram / deciliter in men or 16.5 gram / deciliter in women (or similar numbers based on the hematocrit) and the presence of JAK2 mutation.
  • The minor criteria include bone marrow evidence of increased red blood cell production and decreased EPO levels.
Medically Reviewed by a Doctor on 2/23/2016

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