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Polycythemia-Clinical evaluation

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By Dr.Sujith S. Tumour Polycythemia hepatocellular carcinoma renal cell carcinoma hemangioblastoma pheochromocytoma uterine myomata Approach to a case Things to ... – PowerPoint PPT presentation

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Title: Polycythemia-Clinical evaluation


1
Polycythemia-Clinical evaluation Approach
  • By Dr.Sujith S.

2
  • Increase in circulating red blood cells above
    normal.
  • May be associated with a real increase or only
    apparent because of decrease in plasma volume.

3
  • Erythrocytosis-documentation of increased red
    cell mass.
  • Polycythemia-increase in red cells

4
  • The diagnosis of polycythemia is most commonly
    suspected in a patient with an abnormally high
    result on one or more of the following blood
    tests
  • Hematocrit The hematocrit (HCT) is
    expressed as the percent of a blood sample
    occupied by intact RBCs. Polycythemia is
    suspected when the HCT is gt45 or gt50 percent in
    women and men, respectively.

5
  • ?Hemoglobin concentration The hemoglobin
    concentration (HGB) is its content in grams per
    100 mL of whole blood. Polycythemia is suspected
    when the HGB is gt15 or gt17 g/dL in women and men,
    respectively.

6
  • ?Red blood cell count The red blood cell
    (RBC) count is expressed as the number of RBC per
    microL or L of whole blood. It is least often
    used to suggest polycythemia since patients with
    thalassemia minor may have an elevated RBC count,
    but a normal or reduced HCT or HGB due presence
    of small (microcytic), poorly hemoglobinized
    (hypochromic) red cells

7
  • ?Hematocrits gt60 in men 55 in women are
    almost invariably associated with an increased
    cell mass.

8
Types of Polycythemia
  • Relative
  • -An isolated decrease in plasma volume can
    elevate the hemoglobin, hematocrit, and RBC
    count.
  • -Gaisbock's disease
  • -spurious polycythemia
  • -stress erythrocytosis,
  • -apparent polycythemia,
  • -pseudopolycythemia

9
Absolute Polycythemia
  • ?Primary polycythemia
  • - an acquired or inherited mutation leading to
    an abnormality within RBC progenitors it
    includes polycythemia vera and rare familial
    variants.

10
Secondary polycythemia
  • Secondary polycythemia
  • caused by a circulating factor stimulating
    erythropoiesis, usually erythropoietin (Epo). It
    is most often due to an Epo response to hypoxia,
    but can also result from an Epo-secreting tumor.

11
Causes
  • ?Autonomous (inappropriate) increase of Epo -
    inappropriately high serum Epo
  • Erythropoietin-producing neoplasms
  • -Renal cell carcinoma
  • -Hepatocellular carcinoma
  • -Hemangioblastoma
  • -Uterine fibroids
  • Erythropoietin-producing renal lesions
  • Following renal transplantation (some cases
    are independent of erythropoietin)

12
  • ?Appropriate increases in erythropoietin -
    appropriately high serum erythropoietin
  • Hypoxemia secondary to
  • -Chronic pulmonary disease
  • -Right-to-left cardiac shunts
  • -Sleep apnea
  • -Massive obesity (Pickwickian syndrome)
  • -High altitude
  • -Red cell defects
  • -Some cases of congenital
    methemoglobinemia
  • -Chronic carbon monoxide poisoning
    (including heavy smoking),cobalt.

13
  • ?Miscellaneous causes
  • -Use of androgens or anabolic steroids
  • -Blood doping in athletes
  • -Self-injection of erythropoietin

14
Initial Evaluation
  • History
  • Hypoxia secondary to pulmonary disease
  • - Shortness of breath
  • - Dyspnea on exertion
  • - chronic cough
  • - history of cyanosis
  • - hypersomnolence with unintentional sleep
  • - previously diagnosed heart and lung
    conditions

15
  • b)
  • ?Extended periods of time at high altitude,
  • ?patients previously placed on home oxygen
    therapy / respiratory assist devices,
  • ?known intracardiac or intrapulmonary shunts
  • ? renal transplantation.
  • c) Family history of increased RBC count, HGB, or
    HCT should be sought

16
  • d) Pulmonary AVM
  • e) Medications lifestyle activities.
  • f) A careful smoking history should be obtained,
    including the number of cigarettes.

17
  • Chronic exposure to carbon monoxide (CO) should
    also be sought
  • ?especially in patients with recently detected
    polycythemia and symptoms such as headache,
    dizziness, nausea, malaise, and altered cognition

18
Evaluation cont.d...
  • ?asymptomatic
  • ?pertaining to increased red cell mass
  • hyperviscosity thrombosis(venous
    arterial).
  • ?digital ischaemia
  • ?abdominal thrombosis
  • ? Budd-Chiari syndrome with hepatic vein
    thrombosis.

19
  • ?Neurological symptoms
  • vertigo, tinnitus,headache,visualdisturbances
    .
  • ?Polycythemia vera-aquagenic pruritis , symptoms
    related to hepatosplenomegaly,
  • haemorrhagic/thrombosis.
  • ?with hypoxaemia develop cyanosis on minimal
    exertion or have headache,impaired mental acuity
    fatigue.

20
  • General examination
  • -Cyanosis in the tongue,lips,earlobes nail
    bed of fingers.
  • -Polycythemia vera- plethoric face,ruddy
    complexion,dilated lingual retinal veins,areas
    of painful erythema.

21
  • Altered mentation
  • Pulse-tachycardia,high volume.
  • BPmay be elevated
  • RRtachypnea.
  • Handswarm blue
  • Central cyanosis
  • Neck veins-engorged pulsatile
  • Edema (pedal)

22
Lab investigations
  • ?An elevated total white blood cell and/or
  • platelet count and/or a reduced MCV, should
    raise the suspicion of polycythemia vera

23
  • ?Hyperglycemia Hypokalemia-functional endocrine
    tumours with polycythemia
  • ?Abnormal liver function tests hepatoma
  • ?Microscopic hematuria - presence of an
    Epo-secreting renal cell carcinoma

24
Further evaluation
  • In case tobacco exposure,exhaust products of
    combustion ,COHGB,blood carboxy Hb levels are to
    be done .
  • If in excess of 5,polycythemia is due to CO
    poisoning.
  • Diagnosis is confirmed by stopping the exposure
    return of values in 2- 3 months.

25
  • If clinically has hypoxia,
  • Pulse Oximetry/Arterial oxygen saturation.
  • If Partial pressure of Oxygen is normal,direct
    measurement of arterial hemoglobin oxygen
    saturation is done.
  • If low saturation in the presence of normal
    Arterial O2 tension,then a diagnosis of
    Maethemoglobinemia is made.

26
  • ?Estimation of blood volume
  • Elevation of RCM
  • Decrease in Plasma volume
  • ?Measurement of Serum Erythropoeitin

27
Serum Erythropoetin
  • Low-Polycythemia Vera
  • High Secondary erythrocytosis

28
Evaluation of Secondary Erythrocytosis
  • Congenital
  • Acquired

29
  • Mainly in response to generalized hypoxia
  • Sometimes may be normal in view of appropriate
    response Epo being feedback sensitive to
    increased oxygen carrying capacity.
  • Tumours renovascular disease-Epo significantly
    elevated.

30
Congenital Polycythemia
  • Congenital polycythemia is suspected when disease
    onset is at an early age or there is a positive
    family history of polycythemia
  • Determination of the oxygen pressure at 50
    percent hemoglobin saturation.
  • A low P50 suggests either a high oxygen affinity
    hemoglobinopathy (autosomal dominant) or familial
    2,3-diphosphoglycerate (DPG) deficiency
    (autosomal recessive.

31
Acquired Secondary Erythrocytosis
  • Epo-driven process initiated by
  • ?an oxygen-sensitive Epo response to hypoxia
    .
  • ?an unregulated pathologic production of Epo
    by tumors .

32
  • Serum EPO concentrations are highest in
    congenital heart disease with right-to-left
    shunting or following renal transplantation.
  • If, arterial oxygen tension-N,
  • hemoglobin oxygen saturation-N,
  • carboxyhemoglobin levels-N,

33
  • Abdominal ultrasound or renal vascular studies to
    rule out renal artery stenosis , or other imaging
    procedures (eg, abdominal CT scan) to rule out
    the presence of an Epo-secreting tumor.

34
Tumour Polycythemia
  • hepatocellular carcinoma
  • renal cell carcinoma
  • hemangioblastoma
  • pheochromocytoma
  • uterine myomata

35
Approach to a case
36
Things to Remember
  • Once a high value has been reported, it should be
    confirmed by repeat testing to rule out
    laboratory error
  • An accurate history and physical examination is
    critical in order to determine the etiology of
    polycythemia

37
  • A low value for pulse oximetry suggests the
    presence of cardiopulmonary disease
  • A low serum Epo level in the polycythemic patient
    suggests the diagnosis of polycythemia vera

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