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Diana Colleen Dimayuga

St. Luke’s Medical Center Global City, Philippines

Biography

Paroxysmal nocturnal hemoglobinuria (PNH), a rare benign disorder of the hematopoietic stem cells, is often underdiagnosed. The incidence is about 5 cases per million inhabitants in a year. There are only 1610 patients reported in the International PNH Registry to date. In this report, we describe a case of PNH in the Philippines. Case Report. A 20-year-old Filipino female presented to the emergency department with abdominal pain. No other symptoms were noted. She was otherwise previously healthy. Family history was unremarkable. During physical exam, she was noted to be pale and have significant epigastric pain. Laboratory tests revealed macrocytic normochromic anemia with mild anisocytosis and increased reticulocytes suspicious for hemolytic anemia. The indirect Coomb’s test was negative, excluding an autoimmune hemolytic anemia. There was a note of indirect hyperbilirubinemia, elevated LDH while PT, PTT were within normal range. An abdominal ultrasound revealed no abnormalities. Eventually, she was referred to a hematologist. Flow cytometry was ordered which showed a PNH clone of 39.63% in RBC, 96.3% in granulocytes and 85.10% in monocytes using the reagent FLAER, CD45, CD55 and CD59. Thereafter, the diagnosis of PNH was made. She received blood transfusion and hematinics during admission. Conclusion. This report aims to raise awareness on the combination of unexplained abdominal pain, Coombs‐negative hemolytic anemia, indirect hemoglubinuria and elevated LDH levels to suspect a diagnosis of PNH.

 

Abstract

Abstract : Paroxysmal Nocturnal Hemoglobinuria in a young Filipino female