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Laboratory features

12

POLYCYTHAEMIA RUBRA VERA
oBone marrow is hypercellular with prominent megakaryocytes, iron stores are depleted because of excessive iron incorporation into red cells and the trephine biopsy may show mildly increased reticulin.oSecondary or reactive polycythaemia may occur in conditions where arterial oxygen saturation is reduced, leading to a physiological rise in serum EPO, or when EPO levels are inappropriately raised (e.g. caused by secretion of EPO by a renal neoplasm or other turmour).Differential diagnosis

14

POLYCYTHAEMIA RUBRA VERA
oThrombosis is the main cause of morbidity and mortality and its incidence can be reduced by maintaining the PCV below 0.45 and platelets below 600 x 109 /L.oCulture of peripheral blood cells shows spontaneous formation of erythroid colonies in the absence of exogenous EPO.


Original text

Laboratory features


12


POLYCYTHAEMIA RUBRA VERA
•Bone marrow is hypercellular with prominent megakaryocytes, iron stores are depleted because of excessive iron incorporation into red cells and the trephine biopsy may show mildly increased reticulin.
•Abdominal ultrasound excludes renal disease and assesses spleen size.
•Culture of peripheral blood cells shows spontaneous formation of erythroid colonies in the absence of exogenous EPO.


Laboratory features


13


POLYCYTHAEMIA RUBRA VERA
•The JAK2 mutation is absent in all other forms of polycythaemia.
•Secondary or reactive polycythaemia may occur in conditions where arterial oxygen saturation is reduced, leading to a physiological rise in serum EPO, or when EPO levels are inappropriately raised (e.g. caused by secretion of EPO by a renal neoplasm or other turmour).
•Serum EPO measurement is indicated.


Differential diagnosis


14


POLYCYTHAEMIA RUBRA VERA
•Thrombosis is the main cause of morbidity and mortality and its incidence can be reduced by maintaining the PCV below 0.45 and platelets below 600 x 109 /L. Aspirin (75mg daily) is often used to inhibit platelet function.
•Multiple venesections are used initially to lower the PCV and in some cases for long-term treatment.
•Chemotherapy (e.g. oral hydroxyurea) is also usually required.
•Specific JAK2-inhibiting drugs are in clinical trial.
•A proton pump inhibitor is used for patients with indigestion or history of gastrointestinal bleeding.
•Allopurinol is used to prevent hyperuricaemia.


Treatment


15


POLYCYTHAEMIA RUBRA VERA
•Median survival is about 16 years.
•Up to 30% of patients develop myelofibrosis.
•Acute myeloid leukaemia occurs in up to 5% of patients, not increased by hydroxycarbamide.


Prognosis


16


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