Case 1
In March 2016, a 57-year-old lady presented with a six-month history of
difficulty talking and voice change that started incidentally after an
episode of shouting. She also complained of intermittent diplopia, which
was more evident in looking towards the left side. There were no other
associated symptoms. She did not report difficulty in swallowing,
variation in the speech pattern, or difficulty in breathing. The past
medical and family history was non-contributory. Her facial appearance,
strained speech, and fatigue with recurrent effort suggested myasthenia
gravis (MG). Electromyogram (EMG) along with positive high titre of
anti- muscle-specific kinase (MuSK) antibodies (48.5 nmol/ L, normal
< 0.1 nmol/ L) confirmed MG. Anti-acetylcholine receptor
(AchR) antibodies were negative. She was initially started on steroids
and azathioprine to which she had a good response but developed
steroid-induced Cushing syndrome and multiple thoracolumbar spinal
fractures. She was then shifted to tacrolimus with excellent response,
and steroids were tapered. She developed congestive heart failure (CHF)
with an ejection fraction of 25%, which was thought to be secondary to
the tacrolimus. Tacrolimus was replaced by mycophenolate with bridge
steroids for a short period. In the most recent clinic visit, she was
doing well with mycophenolate. During her initial visit, she was
incidentally noted to have high hemoglobin (17.8 mg/dl, normal
< 16.5 mg/dl) with high hematocrit (64.3%, normal 35% to
45%), erythrocytes (6.9 x106/µL, normal 3.8 to 4.8),
leukocytes (17.4 x103/µL, normal 4 to 10) and
thrombocytes (505 x103/µL, normal 150 to 400). A blood
smear showed erythrocytosis with predominantly normochromic red cells,
leukocytosis with neutrophilia, and thrombocytosis. Physical examination
revealed hepatosplenomegaly, which was confirmed with an ultrasound
abdomen showing a liver span of 19 cm and a spleen measuring 18 cm
(Fig.1.). She was diagnosed with Polycythemia Vera (PV) as per World
Health Organization Diagnostic Criteria as JAK2V617F mutation was
positive. Treatment was initiated with hydroxyurea 500 milligrams twice
daily and aspirin 100 milligrams daily, with follow-ups at regular
intervals. The latest blood tests showed normal hemoglobin (14.8 mg/dl),
erythrocytes (4.5 x106/µL), leukocytes (8.2
x103/µL), and thrombocytes (292
x103/µL) stable over the last two years.