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Polycythemia

Polycythemias

Polycythemia is a clinical disorder characterized by a relative increase in the number of red blood cells in the peripheral blood. In this condition, there is an increase in the hemoglobin content, red blood cell count and hematocrit.


Presentation

Polycythemia can present with the following signs and symptoms:

Palpable Spleen
  • Most patients had non-palpable spleen (284, 87.7%) and no phlebotomies during the past 6 months (197, 57.4%).[ncbi.nlm.nih.gov]
  • A 50% palpable spleen length reduction was observed at any time during therapy in 20/32 evaluable patients.[ncbi.nlm.nih.gov]
  • spleen N (%) 16 (55) 14 (42) 0.316 Cardiovascular risk factors N (%) 16 (53) 20 (57) 0.758 Previous thrombosis N (%) 5 (17) 9 (26) 0.376 Globally, 87% of the patients treated with peg-INF responded (26/30), with a CR rate of 70% (21/30).[jhoonline.biomedcentral.com]
Flushing
  • As the disease progresses, symptoms include: Shortness of breath Dizziness Itchy or flushed skin Fatigue Headaches A tingling or burning sensation in the hands and feet Causes What causes PV? PV begins in the bone marrow.[familydoctor.org]
  • Symptoms Symptoms of PV may include: Fatigue and/or weakness Headache Dizziness Shortness of breath and difficulty breathing while lying down Visual disturbance, such as double vision, blurred vision, and blind spots Inability to concentrate Night sweats Flushed[hopkinsmedicine.org]
  • If the skin is flushed or itchy, particularly after a hot bath, it may indicate a diagnosis of polycythemia. The doctor may also check for a history of smoking or alcohol abuse or a family history of kidney disease.[chealth.canoe.com]
  • […] of energy (fatigue) or weakness Headache Dizziness Shortness of breath and trouble breathing while lying down Vision problems, such as double vision, blurred vision, and blind spots Inability to concentrate Night sweats Face and becomes red and warm (flushed[hopkinsmedicine.org]
Peripheral Neuropathy
Neglect
  • Aquagenic pruritus seems to be an important, but frequently neglected, symptom in patients with polycythemia vera.[ncbi.nlm.nih.gov]

Workup

Polycythemia is diagnosed on the basis of clinical features and laboratory findings. The following tests are used in the work up of patients with polycythemia:

  • Complete blood count (CBC): This determines the red cell mass, red cell count and hematocrit among suspected patients. Thrombocyte count and leukocyte count can also be derived from this laboratory test.
  • Leukocyte alkaline phosphatase level: The leukocyte alkaline phosphatase level is generally elevated up to 100U/L in almost 70% of patients of polycythemia. 
  • Routine coagulation tests: Prothrombin time (PT) and activated partial thromboplastin time (aPTT) are temporarily lengthened in polycythemic patients. 
  • Imaging studies: The use of ultrasonography and computed tomography (CT scan) reveals the presence of an splenomegaly in the patients of polycythemia.
Hypertriglyceridemia
  • Very common adverse reactions in PV ( 10%) include anemia, thrombocytopenia, hypercholesterolemia, hypertriglyceridemia, dizziness, alanine aminotransferase increased and aspartate aminotransferase increased.[novartis.com]
Creatinine Increased
  • The maximum-tolerated dose of gandotinib was 120mg daily, based on dose-limiting toxicities of blood creatinine increase or hyperuricemia at higher doses.[ncbi.nlm.nih.gov]

Treatment

Polycythemia can be treated symptomatically by reducing the red blood cell mass by phlebotomy or the physical drainage of blood from a given vein. Patients who have undergone phlebotomy have a decreased chance of developing a thrombosis in the near future [9]. In patients with polycythemia vera, regular phlebotomy may be indicated because of the chronic nature of the disease.

Patients with thicker blood viscosity benefit from the regular intake of low dose aspirin to prevent blood clots. The use of aspirin also addresses the burning sensation of the hands and feet felt by the patients suffering from polycythemia.

Patients are sometimes given hydroxyurea and interferon to control the overproduction of blood cells in the bone marrow [10].

Anti-itch medications like oral anti-histamines may be given to control the itching felt in the palms and soles of patients. Ultraviolet light (UV) has been arbitrarily used to relieve the itch symptoms in the skin.

Prognosis

Polycythemia is a type of chronic disease requiring long term treatment regimen. Individuals who strictly adhere to the treatment can live a healthy life without any complications. Patients with secondary polycythemia (like smokers and asthmatics) have a greatly reduced the risk for cardiovascular events when regular phlebotomy is done.

Etiology

Polycythemia can either be congenital in nature or can be acquired. The primary type of polycythemia occurs when there is a overproduction of red blood cells by the bone marrow. The most common type of primary polycythemia is known as polycythemia vera. Secondary polycythemia occurs due to certain underlying diseases.

Various factors predispose individuals to developing relative polycythemia. These include obesity, smoking, dehydration and medications such as diuretics and excessive consumption of alcohol [2].

Epidemiology

Primary polycythemia is a rare occurrence. It has been estimated that in the United States, there are just about 45 - 57 cases per 100,000 population [3]. Individuals above 60 years of age are at an increased risk of contracting this blood condition. The incidence of primary polycythemia, in individuals younger than 20 years is estimated to be about 0.01%.
Studies have shown that males are more prone to contract this condition than females, with the male to female ratio being 1.2:2.2 [4].

Sex distribution
Age distribution

Pathophysiology

Mutations that are either acquired or inherited are the primary factors that favor the development of primary polycythemia. Polycythemia vera, which is the most common form of primary polycythemia, occurs as a result of excessive production of red blood cells (RBC's) due to certain abnormalities in the bone marrow [5]. It is a type of myoproliferative disease which is characterized by increased production of myeloid cells [6]. In such cases, excess production of RBC's is also accompanied by excessive production of white blood cells (WBC's) and platelets (thrombocytes). 

Secondary form of polycythemia usually occurs due to an underlying disease condition and is characterized by 6 - 8 million erythrocytes per cubic millimeter of blood. Another factor which greatly triggers the development of polycythemia is the state of reduced oxygen supply, typically seen among chronic smokers and asthmatics. Such conditions cause an increased production of RBC's causing the development of polycythemia.

Prevention

Patients diagnosed with polycythemia should have regular exercises to prevent blood clot formation and improve blood vessel circulation in the body. Tobacco should be strictly prohibited to prevent polycythemia from recurring. Polycythemic patients are prone to the development of sores in hands and feet. A good wound care is imperative to prevent complications especially in tissues with poor blood circulation.

Summary

The condition develops either due to increase in red blood cell count or decrease in plasma volume. In the former case, the condition is referred to as absolute polycythemia; whereas in the latter, it is referred to as relative polycythemia.

Absolute polycythemia is divided into 2 categories; namely, primary and secondary polycythemia. Both of these forms can either be congenital or acquired [1].

Patient Information

Polycythemia is a disorder characterized by an abnormally increased number of red blood cells in the blood. Polycythemia may either occur at birth or later in life secondary to conditions such as smoking, dehydration and obesity. Patients of polycythemia perennially complain of fatigue and disturbed balance. Itching is also a common feature. Headaches and dizziness due to frequent bouts of high blood pressure may also be observed. Blood is reguarly removed from the patients of polycthemia to keep the red cell counts at an acceptable level. Medicines are given to prevent the formation of blood clots and to relieve the symptoms of itching.

References

Article

  1. Lawrence JH, Berlin NI. Relative polycythemia; the polycythemia of stress. Yale J Biol Med 1952; 24:498.
  2. Smith JR, Landaw SA. Smokers' polycythemia. N Engl J Med 1978; 298:6.
  3. Ma X, Vanasse G, Cartmel B, Wang Y, Selinger HA. Prevalence of polycythemia vera and essential thrombocythemia. Am J Hematol. May 2008; 83(5):359-62.
  4. Streiff MB, Smith B, Spivak JL. The diagnosis and management of polycythemia vera in the era since the Polycythemia Vera Study Group: a survey of American Society of Hematology members' practice patterns.Blood. Feb 15 2002; 99(4):1144-9.
  5. Spivak JL. Polycythemia vera: myths, mechanisms, and management. Blood 2002; 100:4272.
  6. Landolfi R. Bleeding and thrombosis in myeloproliferative disorders. Curr Opin Hematol. Sep 1998; 5(5):327-31.
  7. Chustecka Z. First Drug for Polycythemia Vera Approved by FDA. Medscape Medical News.
  8. Mimouni FB, Merlob P, Dollberg S, Mandel D. Neonatal polycythaemia: critical review and a consensus statement of the Israeli Neonatology Association. Acta Paediatr. Oct 2011; 100(10):1290-6.
  9. Passamonti F. How to manage polycythemia vera. Leukemia. Dec 9 2011.
  10. Berk PD, Goldberg JD, Donovan PB, et al. Therapeutic recommendations in polycythemia vera based on Polycythemia Vera Study Group protocols. Semin Hematol. Apr 1986; 23(2):132-43.

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