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.