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polycythemia

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polycythemia

  1. 1. Done by : Ala’a Abdullah Polycythemia Supervised by : Dr.Tariq Aladily
  2. 2. Polycythemia • Polycythemia or erythrocytosis is characterized by an increase in the red cell mass, measured as increased hemoglobin and hematocrit above the upper limit of normal for the patient’s age and sex. • Polycythemia is classified into:  Absolute polycythemia (red cell mass (volume) is raised), which is subdivided into primary and secondary polycythemia.  Relative or pseudopolycythemia (red cell volume is normal but the plasma volume is reduced ).
  3. 3. Causes of polycythemia veraCauses of absolute polycythemia Primary Polycythemia ( rubra ) vera Secondary Caused by physiologically appropriate erythropoietin increase in :  High altitudes  Pulmonary disease and alveolar hypoventilation (sleep apnea)  Cardiovascular disease , especially congenital with the cyanosis  Increased affinity haemoglobin Familial (congenital) polycythemia  Heavy cigarette smoking Caused by inappropriate erythropoietin increase in :  Renal cancer  Tumors such as uterine , hepatocellular carcinoma
  4. 4. Secondary polycythemia • Secondary polycythemia is an increase in red cell mass due to some other conditions. It resolves when the underlying cause is treated. • It is due to increased erythropoietin effect, which may be either physiologically appropriate (due to tissue hypoxemia) or physiologically inappropriate (due to neoplasms, renal cysts, exogenous erythropoietin, androgen excess). • Causes of secondary polycythemia:  High altitudes  Pulmonary disease and alveolar hypoventilation  Cardiovascular disease , especially congenital with the cyanosis  Increased affinity haemoglobin (familial polycythaemia)  Heavy cigarette smoking  Renal cancer  Tumors such as uterine , hepatocellular carcinoma
  5. 5. • This is a rare autosomal dominant condition. • Caused by mutations in the EPO receptor gene which result in hypersenstivity to erythropoiten. • This hematological disorder is present at birth but the clinical symptoms, if they develop, can be discovered at any time during childhood or adulthood. familial (congenital) polycythemia
  6. 6. Relative polycythemia • It is the result of plasma volume contraction, which means a normal TRCV (Total Red Cell Volume). • It is far more common than Polycythemia vera. • Patients with chronic relative erythrocytosis have been described as having Gaisböck syndrome, stress erythrocytosis, pseudopolycythemia (In this syndrome, primarily occurring in obese men, hypertension causes a reduction in plasma volume, resulting in a relative increase in red blood cell count). • Causes of relative polycythemia:  Stress  Cigarette smoking  Dehydration: water deprivation, vomiting  Plasma loss: burns, enteropathy
  7. 7. Primary Polycythemia (rubra) vera • Polycythaemia rubra vera (PRV), also known as polycythaemia vera and primary proliferative polycythaemia, is a myeloproliferative disorder in which there is increased production of red cells and sometimes also of granulocytes and platelets. • In PRV, the increase in red cell volume is caused by a clonal malignancy of marrow stem cell. • The disease results from somatic mutation of a single haemopoietic stem cell which gives it’s progeny a proliferative advantage . • The JAK2 mutation is present in haemopoietic cells in almost 100% of patients. • Polycythaemia vera is a rare chronic disease diagnosed in an estimated 2 to 3 people per 100,000 population. Although it can occur at any age, polycythaemia vera usually affects older people, with most patients diagnosed over the age of 55 years. Polycythaemia vera is rare in children and young adults. It occurs more commonly in males than in females.
  8. 8. Clinical Findings Clinical features are the result of hyperviscosity , hypervolaemia or hypermetabolism: • reddening, swelling, and pain in the digits. • Headaches, dyspnea, numbness or tingling in the fingers. • Blurred vision and night sweats. • Redness of the skin especially the face, may look red, ruddy cyanosis. • Weight loss. • Hypertension.
  9. 9. Complications Possible complications of polycythemia vera include:  Blood clots - Polycythemia vera causes an increase in blood thickness and decrease in blood flow, as well as abnormalities in the platelets, and this increase the risk of blood clots. Blood clots can cause a stroke, a heart attack, or blockage of an artery in the lungs (pulmonary embolism) or in a vein deep within a muscle (deep vein thrombosis). It is the major cause of death in 10-40% of patients.  Blood clots may also block blood vessels that drain blood from the liver (Budd-Chiari syndrome).
  10. 10. Complications (cont.)  Skin problems - Polycythemia vera may cause the skin to itch, especially after a warm bath or shower, due to releasing histamine from basophiles. A burning or tingling sensation in the skin may be experienced. The skin may also appear red, especially on the face, palms and ear lobes.  Problems due to high levels of RBCs – this may cause open sores on the inside lining of the stomach, upper small intestine or esophagus (peptic ulcers), inflammation in the joints (gout), and uric acid stones in the kidneys.  Enlarged spleen (splenomegaly) - The increased number of blood cells caused by polycythemia vera makes the spleen work harder than normal, which causes it to enlarge. If the spleen becomes too large, it may need to be removed.
  11. 11. Laboratory findings • The haemoglobin , haematocrit and red cell count are increased (The hemoglobin may range from ~18 to 24 g/dL in male and ~ 16 to 22 g/dl in female; the hematocrit is usually >60% in men and >55% in women). • A neutrophil leukocytosis is seen in over half of patients , and some have increased circulating basophils. a raised platelets count is present in about half of the patients. • The JAK2 mutation is present in the bone marrow and peripheral blood granulocytes in nearly 100% of patients. • The neutrophil alkaline phosphatase (NAP) score is usually increased.
  12. 12. Laboratory findings (Cont.) • The bone marrow is hypercellular with prominent megakaryocytes , best assessed by a trephine biopsy. • Serum erythropoietin usually low in polycythemia vera but high in erthrocytosis (secondry). • Blood viscosity is increased. • Plasma urate is often increased , the serum lactate dehydrogenase ( LDH) is normal to slightly increased. • Circulating erythroid progenitors ( erythroid colony –forming unit , CFU-E & erythroid burst – forming BFU-E) are increased.
  13. 13. Blood film • The peripheral blood film in polycythaemia of any etiology shows a ‘packed film’ appearance since the viscosity of the blood means that the film of blood is not spread as thinly as normal. • The WBC, neutrophil and basophil counts are increased in the majority of cases. Monocyte and eosinophil counts are much less often increased. • The platelet count is elevated in about two-thirds of cases and platelet size is increased. Giant platelets or megakaryocyte fragments may be present. Bone Marrow • The bone marrow is hypercellular. There is an increase in all cell lines, with a predominant increase in erythroid precursors, resulting in a decrease in the ratio of myeloid to erythroid cells (M:E ratio). • Mild fibrosis is present in ~10 to 15% of cases. • Absence of stainable iron in the marrow.
  14. 14. ‘packed film’ consequent on post-transplant polycythaemia. The Hb was 20 g/dl and the Hct 0.59. The MCV was increased to 114 fl.
  15. 15. The blood film of a patient with PRV complicated by iron deficiency, showing anaemia and thrombocytosis and some hypochromic and microcytic cells. There was an increased basophil count and there is one basophil in the field.
  16. 16. Polycythaemia Rubra Vera; hypercellular bone marrow trephine Polycythemia Vera; a giant platelet. Erythrocytes show signs of hypochromia
  17. 17. Criteria for diagnosis of polycythaemia (rubra) vera Category A ( major ) Category B ( minor ) Elevated red cell mass JAK2 mutation Hypercellular bone marrow Low erythropoietin ( EPO ) Splenomegaly
  18. 18. Treatment • Treatment is aimed at maintaining a normal blood count. • The haematocrit should be maintained at about 0.45 and the platelet count below 400*10^9/L. • Venesection or phlebotomy – to reduce the hematocrit to less than 0.45, useful when a rapid reduction of red cell volume is required. However, it does not control the platelet count. • Cytotoxic myelosuppression – considered if there is poor tolerance of venesection, progressive spleenomegaly, thrombocytosis, weight loss or night sweats.
  19. 19. • Hydroxyurea is valuable in controlling the blood count and may need to be continued for many years. • Phosphorus- 32 therapy – is the most effective myelosupressive agent, and is only used for older patients with severe disease. • Interferone - suppresses excess proliferation in the marrow, valuable in controlling itching and it is the first-line drug for patients less than 40 yrs old. • Aspirin – reduces thrombotic complications.
  20. 20. Polycythaemia in neonates • Most cases of polycythaemia occur in normal healthy infants and may result from a variety of reasons.  Causes of polycythaemia: 1. Placental red cell transfusion may be caused by : • delayed cord clamping which may increase blood volume and red cell mass • twin to twin transfusion syndrome, is a complication of unequal placental sharing ( single placenta ) 2. Placental insufficiency with increased fetal erythropoiesis secondary to intra-uterine hypoxia • Placental insufficiency may occur in association with : • Small for gestational age infants • post mature infants  Other causes of polycythaemia include: • maternal substance use eg. smoking • maternal diabetes • large for gestational age infant • chromosomal abnormality ( down syndrome )
  21. 21. A pair of newborn twins affected by TTTS. Both the recipient (left) and donor (right) survived
  22. 22.  Signs and symptoms • Many polycythaemic infants are asymptomatic. When present, the signs and symptoms of polycythaemia are non-specific and include: • feeding problem • plethora • laziness • cyanosis • respiratory distress • hypotonia • Hypoglycaemia • Jaundice • hypocalcaemia • Thrombocytopenia • Investigation for polycythaemia : The diagnosis of polycythaemia is made on central or peripheral venous blood with a haematocrit over 65%.
  23. 23. Treatment  Treatment for polycythaemia : • partial exchange transfusion (PET) to reduce the venous haematocrit below 60%. • PET using normal saline as the replacement fluid is recommended in symptomatic infants with a haematocrit above 70%. • PET is best performed thorugh peripheral arterial and venous lines.
  24. 24. Thank you

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