Polycythemia can present with the following signs and symptoms:

• Feeling of malaise or general weakness
• Headache
• Vertigo and dizziness [7]
• Tinnitus
• Dyspnea
• Pruritus
• Weight loss
• Constipation
• Splenomegaly
• Arthritis
• Redness in skin in areas of hands, feet and face [8]
• High blood pressure
• Epistaxis

• Hemophilia A

  Treatment Center James L Harper, MD is a member of the following medical societies: American Society of Pediatric Hematology/Oncology, American Federation for Clinical Research, Council on Medical Student Education in Pediatrics, Hemophilia and Thrombosis [emedicine.com]

  QUESTION What is hemophilia? See Answer What Causes an Elevated Red Blood Cell Count? In primary polycythemia, inherent or acquired problems with red blood cell production lead to polycythemia. [emedicinehealth.com]

• Anemia

  Erythroblastosis, which indicates chronic anemia, is also a good diagnostic indicator of TAPS. [ncbi.nlm.nih.gov]

  ( D50 - D64 ) anemia of premature infant ( P61.2 ) benign (familial) polycythemia ( D75.0 ) congenital anemias ( P61.2- P61.4 ) newborn anemia due to isoimmunization ( P55.- ) polycythemia neonatorum ( P61.1 ) polycythemia NOS ( D75.1 ) polycythemia [icd10data.com]

• Plethora

  Convert to ICD-10-CM : 776.4 converts directly to: 2015/16 ICD-10-CM P61.1 Polycythemia neonatorum Applies To Plethora of newborn Polycythemia due to: donor twin transfusion maternal-fetal transfusion ICD-9-CM Coding Information 776.4 is only applicable [icd9data.com]

  Physical findings include plethora, splenomegaly, and, in 25% of cases, hepatomegaly as well as those associated with the complications. [annals.org]

  […] stenosis) hepatic lesions (hepatocellular carcinoma, cirrhosis) endocrine tumours (EPO secreting) other tumours (bronchial tumours) androgens Relative (decreased plasma volume) dehydration (diuretics and alcohol), stress polycythaemia CLINICAL FEATURES plethora [litfl.com]

  Physical examination reveals plethora and engorged retinal veins. The spleen is palpable in 75% of cases but is nearly always enlarged when imaged. [accessmedicine.mhmedical.com]

  Constitutional symptoms: weight loss, fatigue, sweating Hyperviscosity syndrome (triad of mucosal bleeding, neurological symptoms, and visual changes) Plethora Facial flushing Cyanotic lips Pruritus: Itching typically worsens when the skin comes into [amboss.com]

• Congestive Heart Failure

  […] disease like congestive heart failure Cyanotic heart disease (congenital) Sleep apnea Obesity (Pickwickian syndrome) Abnormally High Erythropoietin There may be various causes of inappropriately high erythropoietin (Epo) levels in the bloodstream. [healthhype.com]

  A small number may present with myocardial infarction, congestive heart failure, features of compression of the spinal column from extramedullary haematopoiesis or gout from increased cell turnover. [patient.info]

  Other therapies can be directed toward treating the cause of polycythemia (for example, appropriate treatment of heart failure or chronic lung disease). [emedicinehealth.com]

• Hypoxemia

  ‘Because in chronic pulmonary disease both hypoxemia and polycythemia are simultaneously present, their individual effects on the pulmonary circulation have been difficult to define.’ [en.oxforddictionaries.com]

  However, hypoxemia secondary to chronic pulmonary disease, sleep apnea, morbid obesity, cardiac shunts and high altitude also can cause physiological rise of hemoglobin levels to improve oxygen delivery to the tissues. [healio.com]

  […] defined as Hct >48 in females and >52 in males): Physiology of erythropoeisis: EPO is required for differentiation of erythroblasts into reticulocytes 90% of EPO is synthesized by the kidneys, with the primary driver being hypoxia This can be from true hypoxemia [errolozdalga.com]

  […] of all cell lines commonly seen with precursor cells confirms diagnosis baseline for assessing disease progression JAK2 mutation in peripheral blood – most accurate ↓ serum EPO ↑ RBC despite low EPO ↓ MCV SaO2 normal Sa O 2 EPO RBC mass Plasma Volume Hypoxemia [step2.medbullets.com]

  Chronic pulmonary disease (e.g., emphysema—abnormal distension of the lungs with air) may produce chronic hypoxemia (reduced oxygen tension in the blood) and lead to absolute polycythemia. [britannica.com]

• Abdominal Fullness

  If a person has developed polycythemia as a result of liver cancer, kidney cancer, or other erythropoietin-secreting tumors, then symptoms include weight loss, abdominal fullness or pain and jaundice. [epainassist.com]

  If treatment is possible, the person should make a full recovery. In cases of PV, treatment will focus on managing the condition and symptoms, as there is currently no cure. [medicalnewstoday.com]

• Heart Disease

  […] bronchitis, emphysema Chronic heart disease like congestive heart failure Cyanotic heart disease (congenital) Sleep apnea Obesity (Pickwickian syndrome) Abnormally High Erythropoietin There may be various causes of inappropriately high erythropoietin [healthhype.com]

  Venesection is not performed in cyanotic heart disease except at the request of the cardiologist. Where testosterone replacement must be continued it is appropriate to refer for venesection. [rms.kernowccg.nhs.uk]

  Secondary polycythemia, which is caused by factors that reduce the amount of oxygen reaching the body's tissues, such as smoking, high altitude, or congenital heart disease. [dana-farber.org]

• Flushing

  Clinical features include facial flushing, pruritus, erythromelalgia, headaches, and dizziness. Severe complications such as thrombotic events (e.g., stroke, Budd-Chiari syndrome) may occur. [amboss.com]

  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 What causes polycythemia vera? PV begins in the bone marrow. [familydoctor.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. [medbroadcast.com]

  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]

• Skin Ulcer

  skin ulcers, hyperpigmentation, nail changes Leg ulcers, nausea, diarrhea, fever, elevated liver function test results Renal disease Recombinant interferon alfa-2b (Intron A) Myelosuppressive Influenza-like symptoms, fatigue, anorexia, weight loss, [aafp.org]

  However, HU-treated patients can eventually become resistant or experience unacceptable adverse effects (HU intolerance), including skin ulcers, a reduction in blood cells, gastrointestinal problems, oral ulcers, stomatitis, hyperkeratosis, or actinic [link.springer.com]

• Epistaxis

  Clinical features can include headache, dizziness, epistaxis and exertional dyspnea. Thrombotic events have been observed. [orpha.net]

  Epistaxis is probably related to engorgement of mucosal blood vessels in combination with abnormal hemostasis. Sixty percent of patients are men, and the median age at presentation is 60 years. [accessmedicine.mhmedical.com]

   Bleeding complications (1%) include epistaxis, gum bleeding, ecchymoses, and gastrointestinal (GI) bleeding.  Thrombotic complications (1%) include venous thrombosis or thromboembolism and an ↑prevalence of stroke and other arterial thromboses. [slideshare.net]

  Thrombotic complications Venous thrombosis Arterial thrombosis Hemorrhagic complications Petechiae Epistaxis Bleeding gums References:[2][4][10][16] We list the most important complications. The selection is not exhaustive. [amboss.com]

• Withdrawn

  As much as a pint may be withdrawn in one setting, as long as the patient can tolerate it. [copd.about.com]

  Replacement of the withdrawn blood with fluids (to help dilute the red blood cell concentration). Partial exchange transfusion (slowly removing and replacing a large portion of the baby's blood volume). [stanfordchildrens.org]

  LBH589) Combination Study and Are Judged by the Investigator to Benefit From Continued Treatment Recruiting NCT02386800 Phase 4 Ruxolitinib;Panobinostat 4 Glyburide Compared to Insulin in the Management of White's Classification A2 Gestational Diabetes Withdrawn [malacards.org]

  When phlebotomy is used, blood will be withdrawn in amounts of 300 mL to 500 mL every few days at first, then every few weeks, and then every few months. The treatment goal will be to keep the blood hemoglobin level within the low-to-normal range. [medbroadcast.com]

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.

• Erythrocytosis

  Convert to ICD-10-CM : 289.0 converts directly to: 2015/16 ICD-10-CM D75.1 Secondary polycythemia Approximate Synonyms Erythrocytosis Erythrocytosis due to tobacco use or abuse Erythrocytosis secondary to tobacco use Erythrocytosis secondary to tobacco [icd9data.com]

  MIM number Inheritance Phenotype mapping key Gene/Locus Gene/Locus MIM number 9p24.1 Erythrocytosis, somatic 133100 3 JAK2 147796 12q24.12 Erythrocytosis, somatic 133100 3 SH2B3 605093 19p13.2 [Erythrocytosis, familial, 1] 133100 Autosomal dominant 3 [ncbi.nlm.nih.gov]

  […] vera from secondary causes of erythrocytosis. [mdedge.com]

  Heterozygosity for loss-of-function mutations of the PHD2 gene are associated with autosomal dominant erythrocytosis and increased hypoxia-inducible factors activity.[10][11] HIF2α erythrocytosis: Gain-of-function mutations in HIF2α are associated with [en.wikipedia.org]

• Thrombocytosis

  For example, isolated thrombocytosis, associated with a JAK2 mutation, can be the presenting manifestation of essential thrombocytosis, primary myelofibrosis, or polycythemia vera, while both essential thrombocytosis and primary myelofibrosis can evolve [cancertherapyadvisor.com]

  For patients with marked thrombocytosis the administration of anagrelide may be indicated. Although it is not a curable disease, it is, because of its chronic nature, usually effectively managed over long periods of time. [fcarreras.org]

  Polycythemia is frequently used synonymously with erythrocytosis; however, polycythemia may imply leukocytosis and thrombocytosis, as well as erythrocytosis. Erythrocytosis and Polycythemia Overview of Erythrocytosis and Polycythemia [msdvetmanual.com]

  Definition / general Also referred to as polycythemia rubra vera, primary polycythemia and essential polycythemia BCR-ABL1 negative myeloproliferative neoplasm (MPN) characterized by peripheral erythrocytosis with or without leukocytosis or thrombocytosis [pathologyoutlines.com]

  Alternative form: polycythaemia Synonyms: erythrocytosis erythrocythemia hypercythemia hypererythrocythemia Compare: anemia, leukocytosis, thrombocytosis. [biology-online.org]

• Hyperviscosity

  Diagnosis of hyperviscosity syndrome is clinical. [msdmanuals.com]

  The elevated blood cell mass results in hyperviscosity, which is associated with slow blood flow and an increased risk of thrombosis. The disorder typically initially has a long asymptomatic period, then assumes a chronic, insidious course. [amboss.com]

   Symptoms of PV are often insidious in onset, and they are often related to blood hyperviscosity.  Symptoms are related to 1. hyperviscosity 2. sludging of blood flow 3. thromboses  which lead to poor oxygen delivery and symptoms that include headache [slideshare.net]

  In the neonatal period, polycythemia-induced hyperviscosity can lead to altered blood flow and can subsequently affect organ function. [emedicine.com]

• Hypoglycemia

  The main symptoms and signs of neonatal polycythemia are nonspecific and include ruddy complexion, feeding difficulties, lethargy, hypoglycemia, hyperbilirubinemia, cyanosis, respiratory distress, and seizures. [msdmanuals.com]

  Infants with polycythemia are at increased risk for necrotizing enterocolitis, renal dysfunction, hypoglycemia, and increased pulmonary vascular resistance with resultant hypoxia and cyanosis. [emedicine.com]

• Hepatocellular Carcinoma

  […] either increased RBC mass or decreased plasma volume TYPES Primary polycythaemia rubra vera Secondary chronic hypoxaemia (cyanotic congenital heart disease, chronic pulmonary hypertension…) renal lesions (RCC, renal artery stenosis) hepatic lesions (hepatocellular [litfl.com]

  If the cause of polycythemia still remains elusive, abdominal imaging may be done to evaluate for EPO-producing tumors such as renal cell cancer and hepatocellular carcinoma. [clinlabnavigator.com]

  hepatocellular carcinoma, androgen therapy 2. [errolozdalga.com]

  Pathological EPO production is caused by the following tumours: hepatocellular carcinoma. renal cell carcinoma. cerebellar haemangioma. parathyroid tumours. uterine leiomyoma. pheochromocytoma. meningioma. [nasgp.org.uk]

  In hepatocellular carcinoma there is an increased erythropoietin in blood as hepatocellular carcinomal cells leads to erythropoietin production. [medicaljoyworks.com]

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.

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.

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].

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].

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.

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.

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].

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.

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2. Smith JR, Landaw SA. Smokers' polycythemia. N Engl J Med 1978; 298:6.
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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.
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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.