Case:

A 48-year-old man was suffering from polycythemia rubra vera. After therapy,
he was feeling
better. Recent blood count is done, which shows the following results:
YY Full blood count - Hb – 14.5 g/dL, WBC – 14,700/cmm, poly – 55%, lympho –
35%,
myelocyte – 4%, metamyelocyte – 6%, nucleated RBC–5%
platelets – 4,35,000/cmm, ESR – 1 mm in 1st hr.
YY MCV - 65 fl (normal 76 to 95).
YY MCH - 22 pg (normal 27 to 32).
QUESTIONS
a. What hematological abnormalities are present here?
b. Mention two causes of such abnormalities.
c. What treatment he had received?

Ans/

a. Microcytic hypochromic with leukoerythroblastic blood picture.

b. Venesection and transformation to myelofibrosis.

c. Venesection(phlebotomy).

Note: In PRV, depletion of iron store or iron deficiency is usual. After venesection,
iron deficiency

occurs. Peptic ulcer is also common, hematemesis may occur. Venesection should
be done

carefully if platelet count is very high, because of risk of thrombosis. PRV may
transform to

refractory anemia, myelofibrosis or acute leukemia.

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Case: A 41-year-old man presented with frequent headache, dizziness, lack of
concentration,
pruritus and heaviness in the left upper abdomen for 3 months. Previously, he
was always in
good health.
On examination, BP—140/100 mm Hg, pulse—78/min, spleen—just palpable, no
hepatomegaly. Examination of other systems reveals no abnormalities.
Investigations
YY Full blood count - Hb – 17.6 g/dL, WBC – 21,000/cmm, poly – 83%, lympo –
15%,
eosino – 2%, RBC – 8.2 million/cmm, platelets – 8,50,000/cmm,
ESR – 1 mm in 1st hour.
YY PCV - 65%.
YY RBS - 7.2 mmol/L.
YY Chest X-ray - Normal.
YY X-ray PNS - Maxillary sinusitis.
QUESTIONS
a. What is your diagnosis?
b. Suggest one investigation.
c. Suggest one treatment.

Ans/

a. Polycythemia rubra vera (PRV).

b. Measurement of red cell mass (increased).
c. Venesection.
Note: This patient has high hemoglobin and RBC, also high PCV, which suggests
polycythemia.
There is nothing in the history to suggest secondary causes. High WBC and
platelet count
associated with splenomegaly are all in favor of polycythemia rubra vera.
Differential diagnosis
of high hemoglobin and high PCV are polycythemia rubra vera,
pseudopolycythemia and also
secondary polycythemia. In case of pseudopolycythemia, hemoglobin and PCV
are high, but
red cell volume is normal (which is high in PRV).

Polycythemia rubra vera (PRV) is characterized by increased hemoglobin, RBC,

hematocrit, WBC and platelet. Neutrophil leukocytosis in 70%, basophil and

platelet in 50%.

Also increased LAP (leukocyte alkaline phosphatase), vitamin B12 and uric acid
(may cause

gout). Bone marrow shows hypercellular with increased megakaryocyte.

Abnormal karyotype

may be found in bone marrow.

In vitro, culture of marrow demonstrate autonomous growth in the absence of

other growth

factor.

In secondary polycythemia, only RBC is increased but WBC, platelet and plasma
volume

are normal. Also, red cell mass is normal.

Complications: AML, thromboembolism (cerebral, coronary), hypertension, gout,

pepticulcer, myelofibrosis.

Polycythemia may be (i) relative due to reduced plasma volume (e.g. dehydration,
diuretic)
or (ii) true.

True polycythemia may be primary (PRV) or secondary, which may be due to (i)
high

altitude, cyanotic heart disease, COPD, smoking, (ii) inappropriate and excess
erythropoietin

secretion (renal cyst, renal cell carcinoma, cerebellar hemangioblastoma,

hepatoma, uterine

fibroma).

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Case: A 45-year-old man has been suffering from occasional headache, heaviness
in left
hypochondrium and sleep disturbance for 8 months. Five days before, he had an
attack of
amaurosis fugax and 2 days before, one attack of transient ischemic attack (TIA).
He was
treated in a local clinic and referred to the hospital for further management.
On examination, liver—just palpable, spleen—enlarged 3 cm. No other physical
findings.
Investigations
YY Full blood count - Hb – 11.4 g/dL, WBC – 15,700/cmm, poly – 85%, lympho –
10%,
mono – 5%, ESR – 2 mm in 1st hour, platelets – 6,75,000/cmm,
RBC – 8.2 million/cmm.
YY PCV - 0.55 (normal 0.40 to 0.54).
YY MCV - 68 fl (normal 78 to 98).
YY MCH - 18.5 pg (normal 27 to 32).
YY MCHC - 27 g/dL (normal 30 to 35).
YY PBF - Hypochromia (++), polychromasia (+).
QUESTIONS
a. What is the diagnosis?
b. Mention four diagnostically useful investigations.
c. What treatment is received by the patient?

Ans:

a. Polycythemia rubra vera with iron deficiency anemia.

b. Red cell mass, LAP score, serum iron and TIBC, bone marrow study.

c. Venesection.

Note: Clue for the diagnosis of polycythemia is high RBC, WBC and platelet. In
this case, low

hemoglobin, low MCV, MCH, MCHC and hypochromic blood pictures indicate
associated iron

deficiency.

Polycythemia rubra vera is the stem cell disorder in which there is excess
proliferation of

erythroid, myeloid and megakaryocyte progenitor cells.

The hematological findings in PRV are high hemoglobin, hematocrit and RBC.
Also

neutrophilic leukocytosis in 70%, high basophil and platelet in 50%. Others are
high LAP score,

high vitamin B12 and B12 binding protein transcobalamin 1. Iron deficiency
may occur following
venesection. Erythropoietin is low or absent (high in secondary polycythemia).
Bone marrow

shows erythroid hyperplasia and increased megakaryocyte.

PRV is common in males, after 40 years. Common features are hyperviscosity

syndrome

(headache, dizziness, blackout), pruritus after hot bath or with warm body.
Plethoric deep

dusky cyanosis, splenomegaly (70%), hepatomegaly (50%). Thrombosis (CVD,

peripheral

vascular disease) is common. There may be hypertension, angina, intermittent

claudication

and tendency to bleed. Peptic ulcer is common, bleeding may occur.

Red cell mass measured with radioactive 51Cr labeled red cells—increased (>36
mL/kg in

male, >32 mL/kg in female).

Diagnosis: Plethoric appearance, splenomegaly, increased WBC and increased

platelets are

highly suggestive of PRV.

PRV may transform to myelofibrosis (15%), acute myeloid leukemia and

refractory state

with anemia.

Treatment: (i) Venesection (400 to 500 mL of blood, every 5 to 7 days) until

hematocrit is <45%
and platelet <400 . 109/L, (ii) Radioactive phosphorus is reserved for elderly
patient (5 mCi

of 32P IV, may cause acute leukemia 6 to 10-fold), (iii) Other drugs are
hydroxycarbamide

(hydroxyurea) or interferon may be used, (iv) Aspirin reduces risk of thrombosis.

Median survival—10 years, some 20 years.

Criteria for diagnosis of PRV—High red cell mass and normal PO2 with either
splenomegaly

or two of the following:

i. WBC >12,000/cmm.

ii. Platelet >400,000/cmm.

iii. High B12 binding protein.

iv. High LAP score.

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Case: A 53-year-old typist, non-diabetic, but hypertensive which is well

controlled with atenolol,
presented with painful swelling, affecting the left calf.
On examination, left calf is swollen, red and tender. Other systems reveal no
abnormality.
Investigations
YY Full blood count - Hb – 18.2 g/dL, WBC – 8,000/cmm, poly – 90%, lympho –
10%,
platelets – 2,10,000/cmm.
YY MCV - 78 fl (normal 76 to 96).
YY PCV - 0.58 (normal 0.40 to 0.54).
YY Prothrombin time - 13 sec (control 12).
YY APTT - 37 (control 38).
YY RBS - 6.2 mmol/L.
YY Urine - Normal
YY Chest X-ray - Normal.
YY USG of abdomen - Normal.
YY Serum creatinine - 105 μmol/L (normal 55 to 125).
YY Serum urea - 6.3 mmol/L (normal 2.5 to 6.6).
YY Serum uric acid - 5 mg/L (normal 2 to 7).
QUESTIONS
a. What is the hematological abnormality?
b. Mention two investigations to confirm your diagnosis.
c. Mention three other investigations.

Ans:

a. Secondary polycythemia.

b.(Arterial blood gas) Doppler ultrasonography of left lower limb, venography of

left lower limb.

c. Red cell mass estimation, arterial blood gases, erythropoietin level.

Note: This is likely to be a case of secondary polycythemia, as suggested by high

hemoglobin

and a raised PCV. Secondary polycythemia is due to raised levels of circulating

erythropoietin

(due to living at high altitude, chronic lung disease, or cyanotic heart disease) or
due to

inappropriate secretion of erythropoietin from various sources (such as renal cell

carcinoma,
polycystic kidney disease, hepatocellular carcinoma, cerebellar
hemangioblastoma). In these

cases, white cells and platelets are unaffected.

In pseudopolycythemia, both Hb and PCV are raised owing to

hemoconcentration, resulting

from any cause of reduced extracellular volume (dehydration, diuretics).

Pseudopolycythemia

can be differentiated from true polycythemia by red cell mass estimation, which
is normal in

former. In polycythemia rubra vera, in addition to raised Hb and red cell count,
white cells are

also increased in 70%, and platelets in 50% of cases. Physical examination may
show palpable

spleen.

Bone marrow examination will show erythroid hyperplasia and increased

megakaryocytes,

leukocyte alkaline phosphatase score is also high.

//////////////////////////////////////////////////

Case: An executive engineer aged 52 years was admitted in the hospital with the
complaints of right
sided pleuritic chest pain and hemoptysis.
On examination, anemia—severe, spleen—just palpable. No hepatomegaly.
Investigations
YY Full blood count - Hb – 7.1 g/dL, WBC – 12,300/cmm, poly – 58%, lympho –
32%,
mono – 4%, basophils – 6%, platelets – 10,90,000/mm3, ESR –
110 mm in 1st hr.
YY PCV - 0.27 (normal 0.40 to 0.54).
YY MCV - 72 fl (normal 76 to 96).
YY Ferritin - 12 μg/L (normal 20 to 300).

QUESTIONS
a. Suggest two possible diagnoses.
b. List two further helpful investigations.
c. What is the cause of chest pain?
d. What one physical sign would you look for?

Ans:

a. Essential thrombocythemia with pulmonary embolism.

b. Chest X-ray PA view, bone marrow study.
c. Pleurisy.
d. Pleural rub.
Note: Thrombocytosis may occur in—acute blood loss, hemolysis,
postsplenectomy, CGL.
Essential thrombocythemia is a myeloproliferative disease with very high
production
of platelet. Platelet aggregation is impaired, blood film shows large or atypical
platelet
and megakaryocyte fragments. Bone marrow shows increased megakaryocyte.
There is
splenomegaly, hemorrhage and thromboembolic episodes.