Paroxysmal Nocturnal Hemoglobinuria: A Diagnostic “Zero-Sum-Game”

摘要

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare intravascular hemolytic anemia caused by an acquired mutation in the phosphatidylinositol-N-acetylglucosaminyltransferase-subunit-A (PIG-A) gene. This mutation leads to the deficiency of cellular anchors for complement inhibitor proteins cluster of differentiation (CD)55 and CD59, predisposing red blood cells to hemolysis by the complement system. We describe the case of a 28-year-old male who presented to the Medical A Ward, Hayatabad Medical Complex, Peshawar, Pakistan, in August 2017 for anemia workup and was later diagnosed as PNH. Current treatment guidelines recommend the use of eculizumab for treating PNH, but the cost and availability of this treatment is a major limiting factor in our resource-poor setting.