Case 2
A 63-year-old gentleman, known to have hypertension was referred to
hematology clinic in November 2018, after he was detected to have high
hemoglobin (20.3 mg/dl, normal < 16.5 mg/dl) with high
hematocrit (62.6%, normal 35% to 45%), erythrocytes (7.2
x106/µL, normal 3.8 to 4.8), leukocytes (14.3
x103/µL, normal 4 to 10) and thrombocytes (674
x103/µL, normal 150 to 400). A blood smear showed
erythrocytosis with normal indices with a packed smear appearance,
neutrophilic leukocytosis, and marked thrombocytosis. Ultrasound of the
abdomen showed that the liver measured 14.4 cm, and the spleen measured
15.4 cm (Fig.2.). He was positive for JAK2V617F mutation and was
diagnosed with PV. Treatment was initiated with hydroxyurea 1 gram
daily. Six months later, he was found to have pancytopenia during his
routine follow-up. He had a severely reduced hemoglobin of 2.9 mg/ dl, a
white cell count of 2.3 x103/µL, and a platelet count
of 69 x103/µL. He also complained of diplopia when
looking towards the left for a week. Peripheral smear showed no blasts,
and repeated ultrasound showed a decrease in the size of the spleen.
Hydroxyurea was stopped under the impression of drug-induced bone marrow
suppression; supportive transfusions were given, and blood counts were
monitored. The neurological evaluation showed that he had diplopia that
becomes more pronounced on the left lateral gaze. There was a bilateral
restriction of adduction and vertical movements of eyes. Pupils were
equal and responsive to light. There was no facial asymmetry, and the
gag reflex was preserved. Left-sided ptosis was noted, which worsened
with repeated movements of the eyelid. He developed hypophonia after
counting out loud. The patient’s son added that he has been having a
deconjugate gaze and generalized weakness towards the end of the day for
the last two years, but these symptoms were ignored. There was a high
clinical suspicion of MG, and he was started on pyridostigmine 60 mg
daily, observing for clinical response. There was an improvement in left
eye ptosis over the next three days, and he was maintained on the same
dose of pyridostigmine. AchR antibody was positive, but there was no
thymoma on computed tomography (CT) of the thorax. Hydroxyurea was
stopped, and he was maintained on close follow-ups to monitor blood
counts. Therapeutic venesection was done as and when needed. He was
asymptomatic from the MG point of view and had normal blood counts
during his latest clinic visit in June 2020.